A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
The combined effects of genotypes and environmental factors together on phenotypic characteristics.
Measurement of the dimensions and capacity of the pelvis. It includes cephalopelvimetry (measurement of fetal head size in relation to maternal pelvic capacity), a prognostic guide to the management of LABOR, OBSTETRIC associated with disproportion.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
The transmission of traits encoded in GENES from parent to offspring.
Any method used for determining the location of and relative distances between genes on a chromosome.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.
A group of the D-related HLA antigens found to differ from the DR antigens in genetic locus and therefore inheritance. These antigens are polymorphic glycoproteins comprising alpha and beta chains and are found on lymphoid and other cells, often associated with certain diseases.
Two off-spring from the same PREGNANCY. They are from a single fertilized OVUM that split into two EMBRYOS. Such twins are usually genetically identical and of the same sex.
A social group consisting of parents or parent substitutes and children.
Biochemical identification of mutational changes in a nucleotide sequence.
A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
Transmembrane proteins that form the beta subunits of the HLA-DQ antigens.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Genotypic differences observed among individuals in a population.
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.
Individuals whose ancestral origins are in the continent of Europe.
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.
An individual having different alleles at one or more loci regarding a specific character.
Disorders affecting TWINS, one or both, at any age.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
A subtype of HLA-DRB beta chains that includes over one hundred allele variants. The HLA-DRB1 subtype is associated with several of the HLA-DR SEROLOGICAL SUBTYPES.
Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites.
The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.
The external elements and conditions which surround, influence, and affect the life and development of an organism or population.
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.
The relating of causes to the effects they produce. Causes are termed necessary when they must always precede an effect and sufficient when they initiate or produce an effect. Any of several factors may be associated with the potential disease causation or outcome, including predisposing factors, enabling factors, precipitating factors, reinforcing factors, and risk factors.
Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.
Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.
The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from PREVALENCE, which refers to all cases, new or old, in the population at a given time.
Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.
An individual in which both alleles at a given locus are identical.
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Tumors or cancer of the human BREAST.
The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.
The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.
The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. (Last, Dictionary of Epidemiology, 1988)
Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases.
Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations, or by parent x offspring matings carried out with certain restrictions. All animals within an inbred strain trace back to a common ancestor in the twentieth generation.
Process whereby the immune system reacts against the body's own tissues. Autoimmunity may produce or be caused by AUTOIMMUNE DISEASES.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Inflammatory disease of the THYROID GLAND due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-CELLS and thyroid AUTOANTIBODIES. The clinical signs can range from HYPOTHYROIDISM to THYROTOXICOSIS depending on the type of autoimmune thyroiditis.
A characteristic symptom complex.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes.
A subclass of HLA-D antigens that consist of alpha and beta chains. The inheritance of HLA-DR antigens differs from that of the HLA-DQ ANTIGENS and HLA-DP ANTIGENS.
Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.
A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.
A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
An infant during the first month after birth.
Inhaling and exhaling the smoke of burning TOBACCO.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Persons or animals having at least one parent in common. (American College Dictionary, 3d ed)
A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE.
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
Two offspring from the same PREGNANCY. They are from two OVA, fertilized at about the same time by two SPERMATOZOA. Such twins are genetically distinct and can be of different sexes.
Elements of limited time intervals, contributing to particular results or situations.
Tumors or cancer of the SKIN.
The exposure to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals.
Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
A peptidyl-dipeptidase that catalyzes the release of a C-terminal dipeptide, -Xaa-*-Xbb-Xcc, when neither Xaa nor Xbb is Pro. It is a Cl(-)-dependent, zinc glycoprotein that is generally membrane-bound and active at neutral pH. It may also have endopeptidase activity on some substrates. (From Enzyme Nomenclature, 1992) EC 3.4.15.1.
A country spanning from central Asia to the Pacific Ocean.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)
Typical way of life or manner of living characteristic of an individual or group. (From APA, Thesaurus of Psychological Index Terms, 8th ed)
A family of structurally-related DNA helicases that play an essential role in the maintenance of genome integrity. RecQ helicases were originally discovered in E COLI and are highly conserved across both prokaryotic and eukaryotic organisms. Genetic mutations that result in loss of RecQ helicase activity gives rise to disorders that are associated with CANCER predisposition and premature aging.
Regular course of eating and drinking adopted by a person or animal.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
A distribution in which a variable is distributed like the sum of the squares of any given independent random variable, each of which has a normal distribution with mean of zero and variance of one. The chi-square test is a statistical test based on comparison of a test statistic to a chi-square distribution. The oldest of these tests are used to detect whether two or more population distributions differ from one another.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
Genetic loci associated with a QUANTITATIVE TRAIT.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
A country in western Europe bordered by the Atlantic Ocean, the English Channel, the Mediterranean Sea, and the countries of Belgium, Germany, Italy, Spain, Switzerland, the principalities of Andorra and Monaco, and by the duchy of Luxembourg. Its capital is Paris.
Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN.
Individuals whose ancestral origins are in the continent of Africa.
Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor.
Feeling or emotion of dread, apprehension, and impending disaster but not disabling as with ANXIETY DISORDERS.
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function.
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
Chronic, non-specific inflammation of the GASTROINTESTINAL TRACT. Etiology may be genetic or environmental. This term includes CROHN DISEASE and ULCERATIVE COLITIS.
Stress wherein emotional factors predominate.
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
A genetic process by which the adult organism is realized via mechanisms that lead to the restriction in the possible fates of cells, eventually leading to their differentiated state. Mechanisms involved cause heritable changes to cells without changes to DNA sequence such as DNA METHYLATION; HISTONE modification; DNA REPLICATION TIMING; NUCLEOSOME positioning; and heterochromatization which result in selective gene expression or repression.
Substances that increase the risk of NEOPLASMS in humans or animals. Both genotoxic chemicals, which affect DNA directly, and nongenotoxic chemicals, which induce neoplasms by other mechanism, are included.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
The physical activity of a human or an animal as a behavioral phenomenon.
The capacity of a normal organism to remain unaffected by microorganisms and their toxins. It results from the presence of naturally occurring ANTI-INFECTIVE AGENTS, constitutional factors such as BODY TEMPERATURE and immediate acting immune cells such as NATURAL KILLER CELLS.
A clear, colorless liquid rapidly absorbed from the gastrointestinal tract and distributed throughout the body. It has bactericidal activity and is used often as a topical disinfectant. It is widely used as a solvent and preservative in pharmaceutical preparations as well as serving as the primary ingredient in ALCOHOLIC BEVERAGES.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.
The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.
The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
Behaviors associated with the ingesting of alcoholic beverages, including social drinking.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
Transport proteins that carry specific substances in the blood or across cell membranes.
A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
Tumors or cancer of the LUNG.
The processes whereby the internal environment of an organism tends to remain balanced and stable.
A malignant epithelial tumor with a glandular organization.
Non-antibody proteins secreted by inflammatory leukocytes and some non-leukocytic cells, that act as intercellular mediators. They differ from classical hormones in that they are produced by a number of tissue or cell types rather than by specialized glands. They generally act locally in a paracrine or autocrine rather than endocrine manner.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
Specialized connective tissue composed of fat cells (ADIPOCYTES). It is the site of stored FATS, usually in the form of TRIGLYCERIDES. In mammals, there are two types of adipose tissue, the WHITE FAT and the BROWN FAT. Their relative distributions vary in different species with most adipose tissue being white.
A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)
A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.
PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.
Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.
Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
Persons living in the United States having origins in any of the black groups of Africa.
A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood.
Serum glycoprotein produced by activated MACROPHAGES and other mammalian MONONUCLEAR LEUKOCYTES. It has necrotizing activity against tumor cell lines and increases ability to reject tumor transplants. Also known as TNF-alpha, it is only 30% homologous to TNF-beta (LYMPHOTOXIN), but they share TNF RECEPTORS.
Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Lining of the INTESTINES, consisting of an inner EPITHELIUM, a middle LAMINA PROPRIA, and an outer MUSCULARIS MUCOSAE. In the SMALL INTESTINE, the mucosa is characterized by a series of folds and abundance of absorptive cells (ENTEROCYTES) with MICROVILLI.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers.
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)
Studies in which variables relating to an individual or group of individuals are assessed over a period of time.
A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 13 at locus 13q12.3. Mutations in this gene predispose humans to breast and ovarian cancer. It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev 2000;14(11):1400-6)
Glucose in blood.
A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.
A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.
Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. In addition DNA helicases are DNA-dependent ATPases that harness the free energy of ATP hydrolysis to translocate DNA strands.
MutS homolog 2 protein is found throughout eukaryotes and is a homolog of the MUTS DNA MISMATCH-BINDING PROTEIN. It plays an essential role in meiotic RECOMBINATION and DNA REPAIR of mismatched NUCLEOTIDES.
A group of PROTEIN-SERINE-THREONINE KINASES which activate critical signaling cascades in double strand breaks, APOPTOSIS, and GENOTOXIC STRESS such as ionizing ultraviolet A light, thereby acting as a DNA damage sensor. These proteins play a role in a wide range of signaling mechanisms in cell cycle control.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
HLA-DR antigen subtypes that have been classified according to their affinity to specific ANTIBODIES. The DNA sequence analyses of HLA-DR ALPHA-CHAINS and HLA-DR BETA-CHAINS has for the most part revealed the specific alleles that are responsible for each serological subtype.
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Phenotype of mice and macrophages deficient in both phagocyte oxidase and inducible nitric oxide synthase. (1/27100)

The two genetically established antimicrobial mechanisms of macrophages are production of reactive oxygen intermediates by phagocyte oxidase (phox) and reactive nitrogen intermediates by inducible nitric oxide synthase (NOS2). Mice doubly deficient in both enzymes (gp91(phox-/-)/NOS2(-/-)) formed massive abscesses containing commensal organisms, mostly enteric bacteria, even when reared under specific pathogen-free conditions with antibiotics. Neither parental strain showed such infections. Thus, phox and NOS2 appear to compensate for each other's deficiency in providing resistance to indigenous bacteria, and no other pathway does so fully. Macrophages from gp91(phox-/-)/NOS2(-/-) mice could not kill virulent Listeria. Their killing of S. typhimurium, E. coli, and attenuated Listeria was markedly diminished but demonstrable, establishing the existence of a mechanism of macrophage antibacterial activity independent of phox and NOS2.  (+info)

Enhanced Th1 activity and development of chronic enterocolitis in mice devoid of Stat3 in macrophages and neutrophils. (2/27100)

We have generated mice with a cell type-specific disruption of the Stat3 gene in macrophages and neutrophils. The mutant mice are highly susceptible to endotoxin shock with increased production of inflammatory cytokines such as TNF alpha, IL-1, IFN gamma, and IL-6. Endotoxin-induced production of inflammatory cytokines is augmented because the suppressive effects of IL-10 on inflammatory cytokine production from macrophages and neutrophils are completely abolished. The mice show a polarized immune response toward the Th1 type and develop chronic enterocolitis with age. Taken together, Stat3 plays a critical role in deactivation of macrophages and neutrophils mainly exerted by IL-10.  (+info)

Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk. (3/27100)

The activity of the aromatase enzyme, which converts androgens into oestrogens and has a major role in regulating oestrogen levels in the breast, is thought to be a contributing factor in the development of breast cancer. We undertook this study to assess the role of constitutional genetic variation in the human aromatase gene (Cyp19) in the development of this disease. Our genotyping of 348 cases with breast cancer and 145 controls (all Caucasian women) for a published tetranucleotide repeat polymorphism at intron 4 of the Cyp19 gene revealed the presence of six common and two rare alleles. Contingency table analysis revealed a significant difference in allelic distribution between cases and controls (chi2 5df = 13.52, P = 0.019). The allele measuring 171 bp was over-represented in cases; of 14 individuals homozygous for this allele, 13 were cases. These individuals had a higher incidence of cancer in family members and an earlier age at diagnosis than other cases. In sequencing Cyp19's coding exons and regulatory regions, we discovered a perfect association between a silent polymorphism (G-->A at Val80) and the high-risk genotype. Our conclusion is that constitutional genetic variation at the Cyp19 locus is associated with the risk of developing breast cancer, with the 171-bp allele serving as the high-risk allele.  (+info)

The impact of genetic counselling about breast cancer risk on women's risk perceptions and levels of distress. (4/27100)

Women referred to a familial breast cancer clinic completed questionnaires before and after counselling and at annual follow-up to assess their risk estimate and psychological characteristics. The aims were to determine whether those who attended the clinic overestimated their risk or were highly anxious and whether counselling influenced risk estimates and levels of distress. Women (n = 450) at this clinic were more likely to underestimate (39%) than overestimate (14%) their risk. Mean trait anxiety scores were higher than general population data (t = 4.9, n = 1059, P<0.001) but not significantly different from published data from other screening samples. Overestimators (z = 5.69, P<0.0001) and underestimators (z = -8.01, P<0.0001) reported significantly different risk estimates (i.e. increased accuracy) after counselling, but significant inaccuracies persisted. Over- (n = 12) and underestimators (n = 60) were still inaccurate in their risk estimates by a factor of 2 after counselling. Thirty per cent of the sample scored above the cut-off (5/6) for case identification on a screening measure for psychological distress, the General Health Questionnaire (GHQ). GHQ scores were significantly lower after counselling (t = 3.6, d.f. = 384, P = 0.0004) with no evidence of increasing risk estimate causing increased distress. The risk of distress after counselling was greater for younger women and those who were more distressed at first presentation. The counselling offered was effective in increasing the accuracy of risk perceptions without causing distress to those who initially underestimated their risk. It is worrying that inaccuracies persisted, particularly as the demand for service has since reduced the consultation time offered in this clinic. Further work is needed to evaluate alternative models of service delivery using more sophisticated methods of assessing understanding of risk.  (+info)

Cancer risk in close relatives of women with early-onset breast cancer--a population-based incidence study. (5/27100)

Inherited susceptibility to breast cancer is associated with an early onset and bilateral disease. The extent of familial risks has not, however, been fully assessed in population-based incidence studies. The purpose of the study was to quantify the risks for cancers of the breast, ovary and other sites of close relatives of women in whom breast cancer was diagnosed at an early age. Records collected between 1943 and 1990 at the Danish Cancer Registry were searched, and 2860 women were found in whom breast cancer was diagnosed before age 40. Population registers and parish records were used to identify 14 973 parents, siblings and offspring of these women. Cancer occurrence through to 31 December 1993 was determined within the Cancer Registry's files and compared with national incidence rates. Women with early-onset breast cancer were at a nearly fourfold increased risk of developing a new cancer later in life (268 observed vs. 68.9 expected). The excess risk was most evident for second cancer of the breast (181 vs. 24.5) and for ovarian cancer (20 vs. 3.3). For mothers and sisters, risks for cancers of the breast and ovary were significantly increased by two- to threefold. Bilateral breast cancer and breast-ovarian cancer were very strong predictors of familial risks, with one in four female relatives predicted to develop breast and/or ovarian cancer by age 75. Mothers had a slightly increased risk of colon cancer, but not endometrial cancer. The risk for breast cancer was also increased among fathers (standardized incidence ratio 2.5; 95% CI 0.5-7.4) and especially brothers (29; 7.7-74), although based on small numbers. The risk for prostatic cancer was unremarkable. In this large population-based survey, the first-degree relatives of women who developed breast cancer before age 40 were prone to ovarian cancer as well as male and female breast cancer, but not other tumours that may share susceptibility genes with breast cancer.  (+info)

Susceptibility to childhood acute lymphoblastic leukemia: influence of CYP1A1, CYP2D6, GSTM1, and GSTT1 genetic polymorphisms. (6/27100)

Although acute lymphoblastic leukemia (ALL) is the most common childhood cancer, factors governing susceptibility to this disease have not yet been identified. As such, ALL offers a useful opportunity to examine the glutathione S-transferase and cytochrome P450 genes in determining susceptibility to pediatric cancers. Both enzymes are involved in carcinogen metabolism and have been shown to influence the risk a variety of solid tumors in adults. To determine whether these genes played a similar role in childhood leukemogenesis, we compared the allele frequencies of 177 childhood ALL patients and 304 controls for the CYP1A1, CYP2D6, GSTM1, and GSTT1 genes. We chose the French population of Quebec as our study population because of its relative genetic homogeneity. The GSTM1 null and CYP1A1*2A genotypes were both found to be significant predictors of ALL risk (odds ratio [OR] = 1.8). Those possessing both genotypes were at an even greater risk of developing the disease (OR = 3.3). None of the other alleles tested for proved to be significant indicators of ALL risk. Unexpectedly, girls carrying the CYP1A1*4 were significantly underrepresented in the ALL group (OR = 0.2), suggesting that a gender-specific protective role exists for this allele. These results suggest that the risk of ALL may indeed be associated with xenobiotics-metabolism, and thus with environmental exposures. Our findings may also explain, in part, why ALL is more prevalent among males than females.  (+info)

Cytochrome P450 CYP1B1 determines susceptibility to 7, 12-dimethylbenz[a]anthracene-induced lymphomas. (7/27100)

CYP1B1-null mice, created by targeted gene disruption in embryonic stem cells, were born at the expected frequency from heterozygous matings with no observable phenotype, thus establishing that CYP1B1 is not required for mouse development. CYP1B1 was not detectable in cultured embryonic fibroblast (EF) or in different tissues, such as lung, of the CYP1B1-null mouse treated with the aryl hydrocarbon receptor agonist 2,3,7,8-tetrachlorodibenzo-p-dioxin whereas the equivalent wild-type EF cells express basal and substantial inducible CYP1B1 and lung expresses inducible CYP1B1. CYP1A1 is induced to far higher levels than CYP1B1 in liver, kidney, and lung in wild-type mice and is induced to a similar extent in CYP1B1-null mice. 7,12-dimethylbenz[a]anthracene (DMBA) was toxic in wild-type EFs that express CYP1B1 but not CYP1A1. These cells effectively metabolized DMBA, consistent with CYP1B1 involvement in producing the procarcinogenic 3,4-dihydrodiol as a major metabolite, whereas CYP1B1-null EF showed no significant metabolism and were resistant to DMBA-mediated toxicity. When wild-type mice were administered high levels of DMBA intragastrically, 70% developed highly malignant lymphomas whereas only 7.5% of CYP1B1-null mice had lymphomas. Skin hyperplasia and tumors were also more frequent in wild-type mice. These results establish that CYP1B1, located exclusively at extrahepatic sites, mediates the carcinogenicity of DMBA. Surprisingly, CYP1A1, which has a high rate of DMBA metabolism in vitro, is not sufficient for this carcinogenesis, which demonstrates the importance of extrahepatic P450s in determining susceptibility to chemical carcinogens and validates the search for associations between P450 expression and cancer risk in humans.  (+info)

Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. (8/27100)

We are conducting a genome scan at an average resolution of 10 centimorgans (cM) for type 2 diabetes susceptibility genes in 716 affected sib pairs from 477 Finnish families. To date, our best evidence for linkage is on chromosome 20 with potentially separable peaks located on both the long and short arms. The unweighted multipoint maximum logarithm of odds score (MLS) was 3.08 on 20p (location, chi = 19.5 cM) under an additive model, whereas the weighted MLS was 2.06 on 20q (chi = 57 cM, recurrence risk,lambda(s) = 1. 25, P = 0.009). Weighted logarithm of odds scores of 2.00 (chi = 69.5 cM, P = 0.010) and 1.92 (chi = 18.5 cM, P = 0.013) were also observed. Ordered subset analyses based on sibships with extreme mean values of diabetes-related quantitative traits yielded sets of families who contributed disproportionately to the peaks. Two-hour glucose levels in offspring of diabetic individuals gave a MLS of 2. 12 (P = 0.0018) at 9.5 cM. Evidence from this and other studies suggests at least two diabetes-susceptibility genes on chromosome 20. We have also screened the gene for maturity-onset diabetes of the young 1, hepatic nuclear factor 4-a (HNF-4alpha) in 64 affected sibships with evidence for high chromosomal sharing at its location on chromosome 20q. We found no evidence that sequence changes in this gene accounted for the linkage results we observed.  (+info)

ABSTRACT: BACKGROUND: Recent advances in whole-genome association studies (WGASs) for human cancer risk are beginning to provide the part lists of low-penetrance susceptibility genes. However, statistical analysis in these studies is complicated by the vast number of genetic variants examined and the weak effects observed, as a result of which constraints must be incorporated into the study design and analytical approach. In this scenario, biological attributes beyond the adjusted statistics generally receive little attention and, more importantly, the fundamental biological characteristics of low-penetrance susceptibility genes have yet to be determined. METHODS: We applied an integrative approach for identifying candidate low-penetrance breast cancer susceptibility genes, their characteristics and molecular networks through the analysis of diverse sources of biological evidence. RESULTS: First, examination of the distribution of Gene Ontology terms in ordered WGAS results identified ...
Genetic predisposition to obesity is no barrier to successful weight management The benefits of sticking to a healthy diet to prevent long term weight gain are greater in people at high genetic risk for obesity than in those with low genetic risk, finds a study in The BMJ today. The researchers say their findings
TY - JOUR. T1 - Breast cancer risk and 6q22.33. T2 - combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. AU - Kirchhoff, Tomas. AU - Gaudet, Mia M. AU - Antoniou, Antonis C. AU - McGuffog, Lesley. AU - Humphreys, Manjeet K. AU - Dunning, Alison M. AU - Bojesen, Stig E. AU - Nordestgaard, Børge G. AU - Flyger, Henrik. AU - Kang, Daehee. AU - Yoo, Keun-Young. AU - Noh, Dong-Young. AU - Ahn, Sei-Hyun. AU - Dork, Thilo. AU - Schürmann, Peter. AU - Karstens, Johann H. AU - Hillemanns, Peter. AU - Couch, Fergus J. AU - Olson, Janet. AU - Vachon, Celine. AU - Wang, Xianshu. AU - Cox, Angela. AU - Brock, Ian. AU - Elliott, Graeme. AU - Reed, Malcolm W R. AU - Burwinkel, Barbara. AU - Meindl, Alfons. AU - Brauch, Hiltrud. AU - Hamann, Ute. AU - Ko, Yon-Dschun. AU - GENICA Network. AU - Broeks, Annegien. AU - Schmidt, Marjanka K. AU - Van t Veer, Laura J. AU - Braaf, Linde M. AU - Johnson, Nichola. AU - Fletcher, Olivia. AU - Gibson, ...
The National Cancer Institute (NCI), part of the National Institutes of Health, has released new data from the Cancer Genetic Markers of Susceptibility (CGEMS) study on prostate cancer. This information could help identify genetic factors that influence the disease and will be integral to the discovery and development of new, targeted therapies. This is also the first public release of a whole genome association study of cancer -- such studies examine the entire genome, with no assumptions about which genetic alterations cause cancer. Knowing which genes are most likely to lead to cancer will greatly enhance our ability to diagnosis the disease at its earliest stages, as well as develop therapies to treat cancer when it is most vulnerable to attack, said NCI Director John E. Niederhuber, M.D. Launched in February 2006, CGEMS is the largest comprehensive initiative to identify genetic risk factors for breast and prostate cancers, which are two of the most frequently diagnosed cancers in the ...
At what age should preventive examinations be started with a hereditary predisposition to cancer? The head of the oncology department of MONICA, doctor Alexander Allahverdyan, claims that information about close relatives who have developed cancer diseases can help to figure this out.. Ten years should be taken away from the age of death of a relative who had cancer. It is during this period that regular examinations should begin. If, for example, the father died of cancer at the age of 56, a person needs to start an examination every year after 46 years, he said ...
Background:Crohns disease (CD) is an intractable inflammatory bowel disease of unknown cause. Recent genome-wide association studies of CD in Korean and Japanese populations suggested marginal sharing of susceptibility loci between Caucasian and Asian populations. As the 7 identified loci altogethe
Results An association between SNP rs3802842 on chromosome 11q23.1 and rs16892766 on chromosome 8q23.3 and the risk of developing CRC and age of diagnosis was found in MLH1 mutation carriers. Female MLH1 mutation carriers harbouring the homozygous variant genotype for SNP rs3802842 have the highest risk of developing CRC. When the number of risk alleles for the two SNPs combined was analysed, a difference of 24 years was detected between individuals carrying three risk alleles and those carrying no risk alleles. ...
Recent advances in human genome studies have opened new avenues for the identification of susceptibility genes for many complex genetic disorders, especially in the field of rare cancers such as glioma. To date, eight glioma susceptibility loci have been identified by candidate gene-association studies: PRKDC G6721T, XRCC1 W399R, PARP1 A762V, MGMT F84L, ERCC1 A8092C, ERCC2 Q751K, EGF +61 A/G, and IL13 R110G. Five loci have been identified by genome-wide association studies: TERT rs2736100, CCDC26 rs4295627, CDKN2A-CDKN2B rs4977756, PHLDB1 rs498872, and RTEL1 rs6010620. Using the Ingenuity Pathway Analysis tool, we investigated whether these 13 susceptibility genes are biologically related. Our data provide not only networks for understanding the biological properties of gliomagenesis but also useful pathway maps for future understanding of disease.. ...
It is now recognised that a part of the inherited risk of colorectal cancer (CRC) can be explained by the co-inheritance of low-penetrance genetic variants. The accumulated experience to date in identifying these variants has served to highlight difficulties in conducting statistically and methodologically rigorous studies and follow-up analyses. The COGENT (COlorectal cancer GENeTics) consortium includes 20 research groups in Europe, Australia, the Americas, China and Japan. The overarching goal of COGENT is to identify and characterise low-penetrance susceptibility variants for CRC through association-based analyses. In this study, we review the rationale for identifying low-penetrance variants for CRC and our proposed strategy for establishing COGENT.
Several lines of evidence exist that lend support to T790M as a putative susceptibility allele. T790M has been detected somatically in tumors that have not been treated with gefitinib or erlotinib, which may suggest that this mutant may have arisen during drug-free cancer progression ( 15). Furthermore, the NCI-H1975 BAC cell line, which has never undergone tyrosine kinase inhibitor treatment, has both activating L858R and resistant T790M mutations, suggestive that T790M may be growth promoting ( 5). Bell et al. ( 8) also have observed that the T790M mutation seems to occur in cis with the activating mutations. Perhaps more persuasive is that the analogous resistance mutation in CML patients, BCR-ABL-T315I, displays increased in vitro kinase activity ( 16). Similarly, the analogous mutations in Src (T341M) and FGFR1 (V561M) also result in increased phosphorylation and activation ( 10). Why T790M in EGFR does not reportedly function in a similar manner is unclear.. Our results suggest that the ...
OUTLINE: Patients undergo transvaginal ultrasonography of the ovaries (scheduled for the early follicular phase, day 3-6 of the menstrual cycle) and CA 125 measurement annually. Blood samples are collected every 4 months for analysis of CA 125 levels and novel markers.. Peer Reviewed and Funded or Endorsed by Cancer Research UK. PROJECTED ACCRUAL: A total of 5,000 patients will be accrued for this study. ...
Host genetic variation in components of both specific and innate immune responses affects susceptibility to viral infections. Innate immunity provides the first line of defense, and the development of adaptive immunity is stimulated by innate responses. Pathogen recognition receptors (PRRs) initiate signaling pathways that result in the production of antiviral interferons and cytokines. Mutations or genetic variants (polymorphisms) have been recognized in several factors of innate immunity. Notably, human populations from distinct geographic areas have different frequencies of immune gene variants. The genetic susceptibility may vary from life-threatening manifestations of specific virus infections to a moderately increased frequency of nonsevere infections. Although the innate immunity is nonspecific by nature, the reactions are stereotypic for viral infections compared with bacterial infections. Even infections caused by specific viruses can be differentiated from each other based on the innate immune
Attempting to classify patients into high or low risk for disease onset or outcomes is one of the cornerstones of epidemiology. For some (but by no means all) diseases, clinically usable risk prediction can be performed using classical risk factors such as body mass index, lipid levels, smoking status, family history and, under certain circumstances, genetics (e.g. BRCA1/2 in breast cancer). The advent of genome-wide association studies (GWAS) has led to the discovery of common risk loci for the majority of common diseases. These discoveries raise the possibility of using these variants for risk prediction in a clinical setting. We discuss the different ways in which the predictive accuracy of these loci can be measured, and survey the predictive accuracy of GWAS variants for 18 common diseases. We show that predictive accuracy from genetic models varies greatly across diseases, but that the range is similar to that of non-genetic risk-prediction models. We discuss what factors drive differences in
TY - JOUR. T1 - Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. AU - Onengut-Gumuscu, Suna. AU - Chen, Wei Min. AU - Burren, Oliver. AU - Cooper, Nick J.. AU - Quinlan, Aaron R.. AU - Mychaleckyj, Josyf C.. AU - Farber, Emily. AU - Bonnie, Jessica K.. AU - Szpak, Michal. AU - Schofield, Ellen. AU - Achuthan, Premanand. AU - Guo, Hui. AU - Fortune, Mary D.. AU - Stevens, Helen. AU - Walker, Neil M.. AU - Ward, Lucas D.. AU - Kundaje, Anshul. AU - Kellis, Manolis. AU - Daly, Mark J.. AU - Barrett, Jeffrey C.. AU - Cooper, Jason D.. AU - Deloukas, Panos. AU - Todd, John A.. AU - Wallace, Chris. AU - Concannon, Patrick. AU - Rich, Stephen S.. AU - Baskerville, Tracey. AU - Bautista, Nines. AU - Bhatia, Eesh. AU - Bhatia, Vijayalakshmi. AU - Hasan, Kamaruzaman Bin. AU - Bonnici, Francois. AU - Brodnicki, Thomas. AU - Browning, Brian. AU - Cameron, Fergus. AU - Chaichanwatanakul, Katharee. AU - Cheung, Pik To. AU - ...
In mammalian cells the accumulation of repair proteins to double-strand breaks is a phosphorylation- and ubiquitylation-regulated process. Some of the genes that encode the kinases and ubiquitin ligases in this pathway are cancer predisposition genes, most prominently the breast cancer predisposition gene BRCA1, which encodes a ubiquitin ligase. How BRCA1 ligase activity was regulated following DNA damage was poorly understood. In this review I summarize new data that show a third post-translational modification, by the small ubiquitin like modifier SUMO, is part of the same cascade, enabling and activating DNA damage-regulated processes, including the BRCA1 ligase activity. Cancer Res; 70(10); OF1-3. ©2010 AACR. ...
Recent dramatic advances in the understanding of inherited susceptibility to several common adult-onset cancers have made possible the identification of individuals who may be at significantly increased risk of developing malignant disease. These advances may translate into some of the first opportunities for cancer prevention.
Genetic predisposition in simple terms means an individual possessing a genetic characteristic which is likely to express itself as an ailment due to an environment trigger. This means even though a human being is NOT born with a disorder, he/she has high chances of acquiring it in future. As per the best nutritionist in Mumbai this is also termed as genetic susceptibility. It is majorly categorized as a Non-Communicable Disease by the World Health Organization. Identifying the triggers for genetic predisposition Understanding genetic predisposition is directly linked with informed choices as well as individual lifestyle. Nutritional status forms the maximum of it. Here is a list of ailments which are more likely to occur due to the genetic makeup of an individual: ...
My laboratory focuses on understanding the genetic architecture of autism. We are working with genome-wide genetic data to identify additional susceptibility loci, the genetic mechanisms by which DNA variants influence autism risk, and the genetic and physiological pathways these risk loci implicate. We can use rich genetic datasets to ask questions about the role for copy number vs. SNP variation, rare vs. common variation, gene-sex interaction, gene-gene interaction, and gene-environment interaction.. We are also using human induced pluripotent stem cell (iPSC) models to study known mutations or copy number variants predisposing to autism. We will first identify the effects of genetic risk variants and then be able to ascertain whether the effects of genetic risk can be modified at the cellular level by environmental or pharmacological agents. These models will be used to test hypotheses emerging from our genetic datasets.. Our long term goals are to use genetic tools to improve understanding, ...
Using a range of experimental and bioinformatic procedures to overcome the barriers associated with the study of primary human GI T cells under homeostatic conditions, we report here unbiased expression microarray data for minimally manipulated T cells from the small intestine of tightly matched, healthy controls. We demonstrate that this approach allows the identification of genes upregulated in specific gut T cell subsets and that these genes cluster non-randomly around risk loci for inflammatory pathologies, thus providing an alternative novel approach to candidate gene identification at GWAS risk loci.. The only previously reported human intestinal T cell transcriptional studies used prolonged in vitro culture and expansion of clones derived from atypical IEL T cells associated with refractory CeD.46 ,47 Here, we used material from just eight ileal biopsies, allowing study of physiologically relevant tissue from healthy control individuals rather than dependence upon diseased explants. Low ...
Venous thromboembolism (VTE) is a multifactorial disorder involving both acquired and genetic risk factors. The common genetic factors in Western populations have been studied and reported for several decades, while studies on Asian populations are relatively scarce. Evidence suggests that the prevalence and genetic risk factors of VTE vary significantly among ethnic populations. In this review, we summarize the common genetic risk factors of VTE in both Western and Asian populations. ...
Background: Epidemiologic studies have reported a positive association between type 2 diabetes (T2D) and breast cancer risk, independent of body weight. Methods: We investigated 40 genetic variants known to be associated with T2D in relation to breast cancer risk among 2651 breast cancer cases and 2520 controls of African or European ancestry that were pooled from seven studies. Results: We found that two T2D risk alleles in Caucasian women (rs5945326-G, rs12518099-C) and one in women of African ancestry (rs7578597-T) were positively associated with breast cancer risk at a nominal significance level of 0.05, whereas two T2D risk alleles were inversely associated with breast cancer risk in Caucasian women (rs1111875-C, rs10923931-T). The composite T2D susceptibility score (the number of risk allele) was not significantly associated with breast cancer risk. Conclusion: The association between established T2D genetic susceptibility variants and breast cancer risk in women of African or European ...
Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis ...
Causes of pancreatic cancer include various known and unknown factors. The incidence of pancreatic cancer increases with age. African Americans tend to be more likely to acquire cancer of the pancreas. Cigarette smoking, recent onset diabetes, chronic pancreatitis, obesity, heavy drinking, and family genetics may be risk factors.
I refer all women diagnosed with a HGSC of the ovary, fallopian tube or the peritoneum, irrespective of age, to the Hereditary Cancer Program for genetic counseling and for BRCA mutation testing.
OBJECTIVE: The UCHL-1 gene is widely cited as a susceptibility factor for sporadic Parkinsons disease (PD). The strongest evidence comes from a meta-analysis of small studies that reported the S18Y polymorphism as protective against PD, after pooling studies of white and Asian subjects. Here, we present data that challenge this association. METHODS: In a new large case-control study in white individuals (3,023 subjects), the S18Y variant was not protective against PD under any genetic model of inheritance. Similarly, a more powerful haplotype-tagging approach did not detect other associated variants. RESULTS: Finally, in an updated S18Y-PD meta-analysis (6,594 subjects), no significant association was observed under additive, recessive, or dominant models (odds ratio = 1.00 [95% confidence interval: 0.74-1.33]; odds ratio = 1.01 [95% confidence interval: 0.76-1.35]; and odds ratio = 0.96 [95% confidence interval: 0.86-1.08], respectively), and a cumulative meta-analysis showed a trend toward a ...
The Liver Diseases Genetics and Genomics program supports research to identify genes that influence normal development, function, and diseases of the liver
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Although men of African ancestry have a high risk of prostate cancer (PCa), no genes or mutations have been identified that contribute to familial clustering of PCa in this population. We investigated whether the African ancestry-specific PCa risk variant at 8q24, rs72725854, is enriched in men with a PCa family history in 9052 cases, 143 cases from high-risk families, and 8595 controls of African ancestry. We found the risk allele to be significantly associated with earlier age at diagnosis, more aggressive disease, and enriched in men with a PCa family history (32% of high-risk familial cases carried the variant vs 23% of cases without a family history and 12% of controls). For cases with two or more first-degree relatives with PCa who had at least one family member diagnosed at age ,60 yr, the odds ratios for TA heterozygotes and TT homozygotes were 3.92 (95% confidence interval [CI] = 2.13-7.22) and 33.41 (95% CI = 10.86-102.84), respectively. Among men with a PCa family history, the ...
We have found a substantial number of reports of studies that have investigated candidate genes for low-penetrance breast cancer susceptibility alleles. Despite this research effort, there is no clear evidence that any of these polymorphisms are strongly associated with breast cancer risk. Of the individual studies, few of the reported associations have been statistically significant, and no significant association has been reported by more than one study. In some cases, this might be due to a lack of statistical power in individual studies. Even among the significant associations, the magnitude of the effect found is rarely greater than 2.5-fold increased risk. If the rare allele frequency is 0.2, 315 cases and 315 controls would be required to detect this magnitude of risk for a rare allele homozygote with 90% power at the 5% significance level: 10 of the 46 studies reported were larger than this.. We have attempted to reduce this lack of power by combining results in meta-analyses, but even ...
The expected results will provide a clear picture of the role of common low-susceptibility sequence variants compared to rare high- and intermediate-risk sequence variants, and will contribute to better knowledge of genetic susceptibility factors in BC risk. The results obtained will help to identify inpidual and combined role of genetic variants of the three tiers of genes/loci and their profile with different level of penetrance to BC. The calculated gPAF of each gene, common and rare variants will have potential benefit for BC targeted preventive intervention and early detection programs when considering genetic susceptibility burden in the population. The expecting results also will have commercial significance with a direct consequence to the public health, especially for the development of a genetic risk assessment program and a genetic test which in turn will have a huge impact to detect and reduce hereditary burden of BC in a specific population. The analysis of common low-susceptibility ...
Our data demonstrate that polymorphisms in the AKT2 gene are significantly associated with PCOS. The minor alleles of rs3730051 and rs8100018 were associated with PCOS, and the corresponding haplotype was also associated with PCOS. We used independent, additive, and combined logistic regression models to demonstrate that the association between AKT2 haplotype T-G-C-T and PCOS was independent of the GSK3B risk haplotype, but PCOS risk was increased when both were present. These data offer two potential susceptibility loci from the insulin signaling pathway that may confer increased PCOS risk and suggest that the presence of multiple lesions in a single pathway confers increased risk.. The significant association of rs3735001 and rs8100018 with PCOS extends to a haplotype that includes the minor alleles of these two AKT2 SNPs. Carriers of both minor alleles, in a haplotype, had the same OR as carriers of either risk allele alone, as a SNP. This finding suggests that these alleles are markers ...
Although the recent evidence for individual differences in plasticity is quite compelling, the authors are very tentative and cautious in their papers, which I suppose is necessary when youre proposing something new. You dont want to scare anyone off. So they are keen to point out that the evidence is not quite solid as yet, and there is more work to be done.. This line of work is only beginning, and there are many unknowns. Much the same as in priming research, the evidence of the effect is running a little ahead of the understanding of the mechanisms involved, and researchers are unclear on whether differential susceptibility stems mostly from nature or nurture, or on the breadth of the phenomena that it applies to. Having said that, the idea that that the people most susceptible to negative symptoms and experiences might be the people most susceptible to positive symptoms and experiences, is quite a cheerful thought.. References:. (1) Belsky, J., & Pluess, M. (2009). Beyond diathesis ...
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Online supplementary table 1 summarises terms used to describe sequence variants, and their association with or relevance to disease, and to patient clinical management. The information was derived from a combination of knowledge from the literature, usage in verbal and written project reporting across ENIGMA, in clinical reports generated or viewed by ENIGMA members and documentation/terms described by the Human Variome Project (HVP; http://www.humanvariomeproject.org), ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) and International Society for Gastrointestinal Hereditary Tumours (InSiGHT; https://www.insight-group.org/). The content was presented to ENIGMA members at several consecutive consortium meetings, and also circulated in document form, to invite feedback and additions. While not claiming to be an exhaustive list of terms and their meanings, it is clear that a single term/phrase can be used to describe different aspects relating to a variant (different intent), and that multiple ...
Genetic Predisposition News. Find breaking news, commentary, and archival information about Genetic Predisposition From The tribunedigital-sunsentinel
The current explosion of GWAS, driven in part by falling genotyping costs, has revealed some causal variants and others that have failed to replicate. In some cases, the observed linkage of associated SNPs to coding genes suggests that the associated variant might alter risk by regulating gene expression. cis-linked noncoding sequences often contain consensus binding sites for transcription factors [ENCODE Project Consortium, 2007], and recently, a causal variant for colorectal cancer was shown to be a cis-eQTL for SMAD7 expression [Pittman et al., 2009], suggesting that other associated variants might alter disease predisposition by affecting expression levels of key signaling molecules. Although not all causal variants are likely to regulate expression levels of protein-coding genes, such evidence for an associated SNP can be useful information. Assuming that the associated variant somehow regulates the expression levels of a coding gene, existing prior biological
TY - JOUR. T1 - Investigating the viability of genetic screening/testing for RA susceptibility using combinations of five confirmed risk loci. AU - McClure, Annie. AU - Lunt, Mark. AU - Eyre, Steve. AU - Ke, Xiayi. AU - Thomson, Wendy. AU - Hinks, Anne. AU - Bowes, John. AU - Gibbons, Laura. AU - Plant, Darren. AU - Wilson, Anthony G. AU - Marinou, Ioanna. AU - Morgan, Ann W. AU - Emery, Paul. AU - Steer, Sophia. AU - Hocking, Lynne. AU - Reid, David M. AU - Wordsworth, Paul. AU - Harrison, Pille. AU - Worthington, Jane. AU - Barton, Anne. AU - BIRAC consortium. PY - 2009. Y1 - 2009. N2 - OBJECTIVE: Five loci-the shared epitope (SE) of HLA--DRB1, the PTPN22 gene, a locus on 6q23, the STAT4 gene and a locus mapping to the TRAF1/C5 genetic region--have now been unequivocally confirmed as conferring susceptibility to RA. The largest single effect is conferred by SE. We hypothesized that combinations of susceptibility alleles may increase risk over and above that of any individual locus alone. ...
Cancer incidence varies markedly by ethnicity and geographic location. Ethnic variation in cancer occurrence has traditionally been ascribed to differences in social, cultural, economic, and physical environments. However, this interpretation of the epidemiologic evidence may need to be revised as a result of new biological evidence and theories of carcinogenesis. Carcinogenesis is now recognized
Depression can be hereditary and some members will be at high genetic risk. But having a one of parents or very close relative with depression will not mean you will get it by default or get the same experience. Vastu imbalance and kundali or personal horoscope are still likely to have an important influence of depres
New Delhi, Nov 30 (IANS) The good news: Healthy behaviour appears to slash the risk of coronary disease in people at high genetic risk for events. The bad...
The discovery of inherited gene mutations that increase the risk of certain cancers could greatly expand the use of predictive genetic testing in healthy individuals. In families with hereditary forms of cancer, the use of genetic tests to determine whether family members have inherited suseptibility mutations (ISMs} may improve out come. 1
Genetic testing and counseling is available for patients at risk for breast, ovarian and colon cancer. BRCA1 and BRCA2 testing is available.
A woman who discovers she is at risk for developing breast cancer may wonder if someone else in her family is also at risk. That very thought can help save a life. An estimated 10 percent of women diagnosed with breast cancer have a hereditary predisposition to the disease and are at substantial risk for…
(HealthDay)-For patients with type 2 diabetes (T2D), having a genetic predisposition towards the disease is associated with an increased risk of cardiovascular disease (CVD), according to a study published online Oct. 15 ...
SwePub titelinformation: Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects
Kevin Light MD offers EstroGenomic Profile genetic testing for breast cancer, osteoporosis, and heart disease predispositions for clients at his Texas medical center
I was released from the hospital yesterday around noon. I was supposed to be in for at least a week but they let me go a day early. They are almost totally sure that it was a very acute heart attack caused by a blood clot in the coronary vessel. The blockage was so slight that it dissolved or dislodged itself due to the pressure. This is apparently quite common and happens in about 10% of heart attacks, many of which go unreported because they are not even recognized as being heart attacks. Still uncertain is where the blood clot came from and whether or not there is a high risk of it happening again. The doctor said it was not the result of a thrombosis caused by laying in bed for 3 days. Nor was it caused by any defects such as faulty valves or holes in the wall of the heart. It could be a hereditary predisposition as heart problems seem to run in the family. This lack of certainty is frustrating. Was it a one-time fluke? Could it happen easily again? Am I walking around with a time-bomb in my ...
Prostate cancer is the most frequently diagnosed cancer in males in developed countries. To identify common prostate cancer susceptibility alleles, we genotyped 211,155 SNPs on a custom Illumina array (iCOGS) in blood DNA from 25,074 prostate cancer cases and 24,272 controls from the international PRACTICAL Consortium. Twenty-three new prostate cancer susceptibility loci were identified at genome-wide significance (P | 5 × 10(-8)). More than 70 prostate cancer susceptibility loci, explaining ∼30% of the familial risk for this disease, have now been identified. On the basis of combined risks conferred by the new and previously known risk loci, the top 1% of the risk distribution has a 4.7-fold higher risk than the average of the population being profiled. These results will facilitate population risk stratification for clinical studies.
Montserrat Garcia-Closas and colleagues report a genome-wide association study for bladder cancer. They identify three new susceptibility loci on chromosomes 22q13.1, 19q12 and 2q37.1. We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10−12) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10−11) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10−7) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10
Genome-wide association studies (GWAS) of chronic lymphocytic leukemia (CLL) have shown that common genetic variation contributes to the heritable risk of CLL. To identify additional CLL susceptibility loci, we conducted a GWAS and performed a meta-analysis with a published GWAS totaling 1,739 individuals with CLL (cases) and 5,199 controls with validation in an additional 1,144 cases and 3,151 controls. A combined analysis identified new susceptibility loci mapping to 3q26.2 (rs10936599, P =...
TY - JOUR. T1 - Identification of a new prostate cancer susceptibility locus on chromosome 8q24. AU - Yeager, Meredith. AU - Chatterjee, Nilanjan. AU - Ciampa, Julia. AU - Jacobs, Kevin B.. AU - Gonzalez-Bosquet, Jesus. AU - Hayes, Richard B.. AU - Kraft, Peter. AU - Wacholder, Sholom. AU - Orr, Nick. AU - Berndt, Sonja. AU - Yu, Kai. AU - Hutchinson, Amy. AU - Wang, Zhaoming. AU - Amundadottir, Laufey. AU - Feigelson, Heather Spencer. AU - Thun, Michael J.. AU - Diver, W. Ryan. AU - Albanes, Demetrius. AU - Virtamo, Jarmo. AU - Weinstein, Stephanie. AU - Schumacher, Fredrick R.. AU - Cancel-Tassin, Geraldine. AU - Cussenot, Olivier. AU - Valeri, Antoine. AU - Andriole, Gerald L.. AU - Crawford, E. David. AU - Haiman, Christopher A.. AU - Henderson, Brian. AU - Kolonel, Laurence. AU - Le Marchand, Loic. AU - Siddiq, Afshan. AU - Riboli, Elio. AU - Key, Timothy J.. AU - Kaaks, Rudolf. AU - Isaacs, William. AU - Isaacs, Sarah. AU - Wiley, Kathleen E.. AU - Gronberg, Henrik. AU - Wiklund, ...
Uncovering common genetic risk factors for Parkinsons disease Introduction. Mutations in the so called PARK genes lead to rare familial forms of Parkinsons disease (PD). However the extent to which common genetic variability around these genes alters risk for common PD remains unclear. The Australian Parkinsons Project is analysing genetic variability around the PARK loci in a large PD case-control sample recruited from three Australian states. The emphasis is on gene-gene and gene-environment interactions between commonly occurring variables. Aim. To report on a pilot PD association analysis of 87 polymorphisms around13 PARK genes in an initial case-control sample recruited during 2006. Methods. PD cases (n=326) and unaffected control subjects (n=298) of white European ancestry were recruited from three specialist clinics in Brisbane and the Australian Electoral Roll. Common genetic variables (86 SNPs genotyped on the TaqMan platform and 1 STR variable genotyped using standard methods) were ...
Novel association of a functional single nucleotide polymorphism in the BTNL2 gene with susceptibility to rheumatoid arthritis and baseline radiographic severity in African-Americans independent of HLA DRB1: Results from the CLEAR registry ...
Breast Cancer Association Consortium (BCAC), Barretts and Esophageal Adenocarcinoma Consortium (BEACON), Colon Cancer Family Registry (CCFR), Transdisciplinary Studies of Genetic Variation in Colorectal Cancer (CORECT), Endometrial Cancer Association Consortium (ECAC), Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), Melanoma Genetics Consortium (GenoMEL), Glioma International Case-Control Study (GICC), International Lung Cancer Consortium (ILCCO), Integrative Analysis of Lung Cancer Etiology and Risk (INTEGRAL) Consortium, International Consortium of Investigators Working on Non-Hodgkins Lymphoma Epidemiologic Studies (InterLymph), Ovarian Cancer Association Consortium (OCAC), Oral Cancer GWAS, Pancreatic Cancer Case-Control Consortium (PanC4), Pancreatic Cancer Cohort Consortium (PanScan), Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL), Renal Cancer GWAS, Testicular Cancer Consortium (TECAC), Zhang, Y. D., Hurson, A. ...
The survival of breast cancer patients is largely influenced by tumor characteristics, such as TNM stage, tumor grade and hormone receptor status. However, there is growing evidence that inherited genetic variation might affect the disease prognosis and response to treatment. Several lines of evidence suggest that alleles influencing breast cancer risk might also be associated with breast cancer survival. We examined the associations between 35 breast cancer susceptibility loci and the disease over-all survival (OS) in 10,255 breast cancer patients from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3) of which 1,379 died, including 754 of breast cancer. We also conducted a meta-analysis of almost 35,000 patients and 5,000 deaths, combining results from BPC3 and the Breast Cancer Association Consortium (BCAC) and performed in silico analyses of SNPs with significant associations. In BPC3, the C allele of LSP1-rs3817198 was significantly associated with improved OS ...
Introduction Systemic Lupus Erythematosus (SLE) shows a spectrum of clinical manifestations that complicate its diagnosis, treatment and research. This variability is likely related with environmental exposures and genetic factors among which known SLE susceptibility loci are prime candidates. The first published analyses seem to indicate that this is the case for some of them, but results are still inconclusive and we aimed to further explore this question. Methods European SLE patients, 1444, recruited at 17 centres from 10 countries were analyzed. Genotypes for 26 SLE associated SNPs were compared between patients with and without each of 11 clinical features: ten of the American College of Rheumatology (ACR) classification criteria (except ANAs) and age of disease onset. These analyses were adjusted for centre of recruitment, top ancestry informative markers, gender and time of follow-up. Overlap of samples with previous studies was excluded for assessing replication. Results There were three
A recent genome-wide association study (GWAS) conducted by the International Multiple Sclerosis Genetics Consortium (IMSGC) identified a number of putative MS susceptibility genes. Here we have performed a replication study in 1134 Australian MS cases and 1265 controls for 17 risk-associated single nucleotide polymorphisms (SNPs) reported by the IMSGC. Of 16 SNPs that passed quality control filters, four, each corresponding to a different non-human leukocyte antigen (HLA) gene, were associated with disease susceptibility: KIAA0350 (rs6498169) P=0.001, IL2RA (rs2104286) P=0.033, RPL5 (rs6604026) P=0.041 and CD58 (rs12044852) P=0.042. There was no association (P=0.58) between rs6897932 in the IL7R gene and the risk of MS. No interactions were detected between the replicated IMSGC SNPs and HLA-DRB1*15, gender, disease course, disease progression or age-at-onset. We used a novel Bayesian approach to estimate the extent to which our data increased or decreased evidence for association with the six ...
Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohns disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we performed a cross-disease meta-analysis including GWAS data from 5,734 SSc patients, 4,588 CD patients and 14,568 controls of European origin. We identified 4 new loci shared between SSc and CD, IL12RB2, IRF1/SLC22A5, STAT3 and an intergenic locus at 6p21.31. Pleiotropic variants within these loci showed opposite allelic effects in the two analysed diseases and all of them showed a significant effect on gene expression. In addition, an enrichment in the IL-12 family and type I interferon signaling pathways was observed among the set of SSc-CD common genetic risk loci. In conclusion, through the first cross-disease meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two ...
The recognition that prostate cancer has a strong familial component has led to the search for prostate cancer susceptibility genes. Localization of these genes through linkage studies, however, has become a particularly formidable task. Prostate cancer is the most common cancer affecting American men; this high background rate of sporadic cancer obscures the ability to identify families with true genetic predisposition. Prostate cancer is also a late-onset disease. Thus, it is often difficult to identify and collect samples from individuals in several generations. Despite these problems, linkage studies have identified three autosomal putative prostate cancer susceptibility loci, namely, HPC1, PCAP, and CAPB. The likelihood of locus heterogeneity further complicates prostate cancer linkage studies and necessitates large sample sizes.. To localize HPCX, Xu et al. (16) studied 360 prostate cancer families with an average of 4.3 affected men/family obtained from research studies from two ...
Candidate gene and genome-wide association studies (GWAS) have identified 15 independent genomic regions associated with bladder cancer risk. In search for additional susceptibility variants, we followed up on four promising single-nucleotide polymorphisms (SNPs) that had not achieved genome-wide significance in 6911 cases and 11 814 controls (rs6104690, rs4510656, rs5003154 and rs4907479, P | 1 × 10(-6)), using additional data from existing GWAS datasets and targeted genotyping for studies that did not have GWAS data. In a combined analysis, which included data on up to 15 058 cases and 286 270 controls, two SNPs achieved genome-wide statistical significance: rs6104690 in a gene desert at 20p12.2 (P = 2.19 × 10(-11)) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 × 10(-10)). Imputation and fine-mapping analyses were performed in these two regions for a subset of 5551 bladder cancer cases and 10 242 controls. Analyses at the 13q34 region suggest a single signal marked by rs4907479. In contrast
TY - JOUR. T1 - Multivariate logistic regression for familial aggregation in age at disease onset. AU - Matthews, Abigail G.. AU - Finkelstein, Dianne M.. AU - Betensky, Rebecca. PY - 2007/6/1. Y1 - 2007/6/1. N2 - Familial aggregation studies seek to identify diseases that cluster in families. These studies are often carried out as a first step in the search for hereditary factors affecting the risk of disease. It is necessary to account for age at disease onset to avoid potential misclassification of family members who are disease-free at the time of study participation or who die before developing disease. This is especially true for late-onset diseases, such as prostate cancer or Alzheimers disease. We propose a discrete time model that accounts for the age at disease onset and allows the familial association to vary with age and to be modified by covariates, such as pedigree relationship. The parameters of the model have interpretations as conditional log-odds and log-odds ratios, which can ...
TY - CHAP. T1 - Complex Genetics of Alcoholism. AU - Edenberg, Howard. AU - Foroud, Tatiana. PY - 2014/2. Y1 - 2014/2. N2 - Genetic factors play a significant role in the risk for alcoholism, although environmental influences are also important. Alcohol use disorders are defined by symptomology and are heterogeneous, making the identification of specific genes that affect risk difficult. Several strategies have been applied to identify genes that contribute to alcoholism and alcohol-related phenotypes, including candidate gene studies, family-based linkage studies, and genome-wide association studies. Variants in the alcohol metabolizing genes ALDH2 and ADH1B confer some protection against alcohol dependence. Common variants in other genes, including ADH4, ADH1C, GABRA2, GABRG1, CHRNA5, CHRNA3, CHRM2, PECR, AUTS2, PDYN, OPRK1, and KCNJ6, have been associated with alcohol dependence or other alcohol-related phenotypes. Many of these results await further replication. Meta-analysis of large ...
Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic
In recent years the pace of discovery of genetic associations with type I diabetes (T1D) has accelerated, with the total number of confirmed loci, including the major histocompatibility complex (MHC) region, reaching 43. However, much of the deciphering of the associations at these, and the established T1D loci, has yet to be performed in sufficient numbers of samples or with sufficient markers. Here, 257 single-nucleotide polymorphisms (SNPs) have been genotyped in 19 candidate genes (INS, PTPN22, IL2RA, CTLA4, IFIH1, SUMO4, VDR, PAX4, OAS1, IRS1, IL4, IL4R, IL13, IL12B, CEACAM21, CAPSL, Q7Z4c4(5Q), FOXP3, EFHB) in 2300 affected sib-pair families and tested for association with T1D as part of the Type I Diabetes Genetics Consortiums candidate gene study. The study had approximately 80% power at alpha=0.002 and a minor allele frequency of 0.2 to detect an effect with a relative risk (RR) of 1.20, which drops to just 40% power for a RR of 1.15. At the INS gene, rs689 (-23 HphI) was the most associated
Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p ...
We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium and 8,514 UK population controls across 196,524 variants within 186 known autoimmune risk loci. We identified 3 loci newly associated with PBC (at P|5×10(-8)), increasing the number of known susceptibility loci …
The current challenge in biomedical research is to detect genetic risk factors involved in common complex diseases. The power to detect their role is generally poor in populations that have been large for a long time. It has been suggested that the power may be increased by taking advantage of the specificity of founder populations: linkage disequilibrium spanning larger regions and kinship coefficients being stronger than in large populations. A new method is proposed here, the Maximum Identity Length Contrast (MILC) which, in contrast with other existing methods, does not make the assumption of unique ancestry for the genetic risk factors. It is thus appropriate for a search for common genetic risk factors for complex diseases. Statistical properties of the method are discussed in realistic contexts.
Men with an inherited mutation linked to increased risk for prostate cancer may benefit from enhanced cancer screening. The National Cancer Institute opened a clinical trial for prostate cancer screening study looking at MRI to improve prostate cancer detection.
Objective Systemic lupus erythematosus (SLE; OMIM 152700) is a chronic autoimmune disease for which the aetiology includes genetic and environmental factors. ITGAM, integrin αΜ (complement component 3 receptor 3 subunit) encoding a ligand for intracellular adhesion molecule (ICAM) proteins, is an established SLE susceptibility locus. This study aimed to evaluate the independent and joint effects of genetic variations in the genes that encode ITGAM and ICAM. Methods The authors examined several markers in the ICAM1-ICAM4-ICAM5 locus on chromosome 19p13 and the single ITGAM polymorphism (rs1143679) using a large-scale case-control study of 17 481 unrelated participants from four ancestry populations. The single marker association and gene-gene interaction were analysed for each ancestry, and a meta-analysis across the four ancestries was performed. Results The A-allele of ICAM1-ICAM4-ICAM5 rs3093030, associated with elevated plasma levels of soluble ICAM1, and the A-allele of ITGAM rs1143679 ...
Relief is when you and the right researcher find each other Finding the right clinical trial for Multiple sclerosis susceptibility can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity. ...
Using the candidate gene approach (discussed earlier in this chapter), many genes have been associated with asthma or asthma-related traits such as allergy and high concentrations of immunoglobulin E (IgE) in serum (table 2). Not all of these suspected asthma susceptibility genes have been replicated in multiple independent studies. One group of (allergic) asthma susceptibility genes is involved in innate immunity responses, encompassing pattern-recognition receptors, immunoregulatory cytokines and molecules involved in antigen presentation. A second group of asthma susceptibility genes are key players in T-helper type 2 (Th2)-cell differentiation and Th2- cell effector function. Th2 cells are T-lymphocytes that drive the production of allergic immunoglobulins (IgE) and the chronic airway inflammation in (allergic) asthma.. Linkage studies in families have discovered several novel asthma susceptibility genes that are expressed in epithelial cells and/or smooth muscle cells in the airways (table ...
Chromosome 5p15.33 has been identified as a lung cancer susceptibility locus, however the underlying causal mechanisms were not fully elucidated. Previous fine-mapping studies of this locus have relied on imputation or investigated a small number of known, common variants. This study represents a significant advance over previous research by investigating a large number of novel, rare variants, as well as their underlying mechanisms through telomere length. Variants for this fine-mapping study were identified through a targeted deep sequencing (average depth of coverage greater than 4000x) of 576 individuals. Subsequently, 4652 SNPs, including 1108 novel SNPs, were genotyped in 5164 cases and 5716 controls of European ancestry. After adjusting for known risk loci, rs2736100 and rs401681, we identified a new, independent lung cancer susceptibility variant in LPCAT1: rs139852726 (OR = 0.46, P = 4.73x10(-9)), and three new adenocarcinoma risk variants in TERT: rs61748181 (OR = 0.53, P = ...
Chromosome 5p15.33 has been identified as a lung cancer susceptibility locus, however the underlying causal mechanisms were not fully elucidated. Previous fine-mapping studies of this locus have relied on imputation or investigated a small number of known, common variants. This study represents a significant advance over previous research by investigating a large number of novel, rare variants, as well as their underlying mechanisms through telomere length. Variants for this fine-mapping study were identified through a targeted deep sequencing (average depth of coverage greater than 4000×) of 576 individuals. Subsequently, 4652 SNPs, including 1108 novel SNPs, were genotyped in 5164 cases and 5716 controls of European ancestry. After adjusting for known risk loci, rs2736100 and rs401681, we identified a new, independent lung cancer susceptibility variant in LPCAT1: rs139852726 (OR = 0.46, P = 4.73×10(-9)), and three new adenocarcinoma risk variants in TERT: rs61748181 (OR = 0.53, P = 2.64×10(-6)),
The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace.
The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace.
NIH Funding Opportunities and Notices in the NIH Guide for Grants and Contracts: Ancillary Studies to the NIDDK Inflammatory Bowel Disease Genetics Consortium (R01- Clinical Trial Optional) RFA-DK-17-017. NIDDK
OLIVEIRA, Martha Maria de et al. Single Nucleotide Polymorphisms (SNPs) of the TNF-a (-238/-308) gene among TB and nom TB patients: susceptibility markers of TB occurrence?. J. bras. pneumol. [online]. 2004, vol.30, n.4, pp.371-377. ISSN 1806-3713. https://doi.org/10.1590/S1806-37132004000400012.. BACKGROUND: Host genetic factors may play a role in the susceptibility to active tuberculosis (TB), and several polymorphisms in different cytokine coding genes have been described and associated with diseases to date. OBJECTIVES: To investigate whether polymorphisms within the promoter region of the TNF-a (-238/-308) coding genes are associated to the occurrence of active TB. METHODS: SNPs within the TNF-a gene were analyzed by PCR-RFLP among two groups of individuals: patients with TB (n = 234, and patients non TB (n = 113). RESULTS: In this study, the presence of the -238A allele was associated with susceptibility to TB disease occurrence and severity (p = 0,00002; OR = 0,15; IC = 0,06-0,36. On the ...
Epithelial ovarian cancer (EOC) has a heritable component that remains to be fully characterized. Most identified common susceptibility variants lie in non-protein-coding sequences. We hypothesized that variants in the 3 untranslated region at putative microRNA (miRNA)-binding sites represent funct …
This course focuses on the fundamental research methods and applications in the dynamic field of genetic epidemiology. To help students obtain a basic understanding of the field, the course includes topics such as assessing genetic influences on disease; advances in genomics technology; family based study designs for linkage, exome sequencing and case-parent trios; candidate gene and genome-wide association studies of both common and rare genetic variants; gene-environment interactions, epistasis and non-Mendelian genetics; software and web-based data resources; ethical issues in genetic epidemiology; and applications of genetic epidemiology to clinical practice and public health. Students will be exposed to a range of research approaches in genetic epidemiology, to examples of these approaches from the literature and from ongoing studies, and will have an opportunity to apply these methods by writing a grant application or human genome epidemiology review in their area of research ...
Finally, a risk score consisting of 47 T2D susceptibility gene variants showed a strong association with fasting glucose, T2D and HOMA-B. Interaction analysis suggested that its effect on fasting glucose levels might be modulated by BMI. The score was associated with greater increase in fasting glucose in obese individuals compared to overweight or normal individuals. The same effect was not observed for T2D risk, possibly because of reduced statistical power. When the variants were partitioned by their proposed physiologic mechanism in the disease, a strong association was found with decreased HOMA-B for one set of SNPs and with increased HOMA-IR for another. The genetic risk score associated with IR, but not the other genetic risk scores, showed a strong association with chronic kidney disease (CKD). Mendelian randomization analysis suggested a causal effect of IR on impaired glomerular filtration rate. The association was statistically significant after the exclusion of diabetic individuals ...
Psoriasis is really a physically, emotionally, and socially invalidating multifactorial disorder, with a substantial effect on the individuals standard of living. the most essential improvements in psoriasis biomarker finding, directing out those biomarkers that have also been analyzed in additional stress-related conditions, therefore emphasizing the partnership between psoriasis and tension. 1. Intro Psoriasis is really a chronic, immune-mediated, polygenic skin condition with a common occurrence affecting around 2% from the Caucasian human buy 139110-80-8 population [1, 2]. It really is a physically, psychologically, and socially invalidating condition with an excellent effect on the individuals standard of living [3]. Individuals with psoriasis frequently experience sociable stigma. Psoriasis can show up at any age group, but two peaks in age group starting point have already been reported: the very first between 20 and 30 years and the next between 50 and 60 years [4]. Men and women are ...
Previously, TP53 codon 72 polymorphisms have been implicated as risk factors for various cancers. A number of studies have conducted on the association of TP53 codon 72 polymorphisms with susceptibility to breast carcinoma and have yielded inconclusive results. The aim of the present study was to derive a more precise estimation of the relationship. We conducted a search in the Medline, EMBASE, OVID, Sciencedirect, and Chinese National Knowledge Infrastructure (CNKI) without a language limitation, covering all papers published up to Jan 2009. The associated literature was acquired through deliberate searching and selected based on the established inclusion criteria for publications. A total of seventeen case-control studies, including 12226 cases and 10782 controls, met the included criteria and thus were selected. Ultimately, the relevant data were extracted and further analyzed using systematic meta-analyses. Overall, no associations of TP53 codon 72 polymorphisms with breast carcinoma were observed
To explore the readiness of living, untested first-degree relatives (FDRs) to have cascade genetic testing (CGT) for a hereditary predisposition to cancer. Adults with a hereditary predisposition to cancer completed an anonymous, online survey about their genetic testing and their FDRs vital status, awareness of the variant, uptake of CGT, and readiness for CGT among living, untested FDRs using transtheoretical model stages of change. One hundred fifty participants completed the survey and reported 825 FDRs. Overall, 70.3% of FDRs were reportedly aware of the variant and 30.5% had completed CGT. Siblings had higher rates of awareness and CGT than parents or children (p | 0.001). Relatives sex was associated with awareness and CGT; mothers were aware and had CGT at higher rates than fathers (p = 0.049 and p | 0.001), sisters were aware and had CGT at higher rates than brothers (p = 0.041 and p = 0.002), and daughters had higher rates of awareness than sons (p = 0.038). Of 340 living, untested FDRs, 79
Alzheimers Disease Susceptibility Genes APOE and TOMM40, and Hippocampal Volumes in the Lothian Birth Cohort 1936. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
Academy of Finland Centre of Excellence in Complex Disease Genetics (CoECDG), Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki.
The purpose of the Alzheimers Disease Genetics Study is to help identify the genes that may be responsible for causing Alzheimers Disease (AD) by collecting genetic material from families with multiple members diagnosed with AD. Qualifying families will have two living blood-related individuals who have been diagnosed with or are showing symptoms of AD or dementia. Local study sites are located all over the United States, and arrangements may be made for eligible families who do not live near a participating site. The biological samples and data from these families will be made available to qualified researchers, who must sign a Materials Transfer Agreement (MTA) in order to protect the privacy rights of study participants before receiving DNA and data ...
BACKGROUND: Several genes encoding for DNA repair molecules implicated in maintaining genomic integrity have been proposed as cancer-susceptibility genes. Although efforts have been made to create synopses for specific fields that summarize the data from genetic association studies, such an overview is not available for genes involved in DNA repair. METHODS: We have created a regularly updated database of studies addressing associations between DNA repair gene variants (excluding highly penetrant mutations) and different types of cancer. Using 1087 datasets and publicly available data from genome-wide association platforms, meta-analyses using dominant and recessive models were performed on 241 associations between individual variants and specific cancer types that had been tested in two or more independent studies. The epidemiological strength of each association was graded with Venice criteria that assess amount of evidence, replication, and protection from bias. All statistical tests were ...
Part of the substantial unexplained familial aggregation of breast cancer may be due to interactions between common variants, but few studies have had adequate statistical power to detect interactions of realistic magnitude. We aimed to assess all two-way interactions in breast cancer susceptibility between 70 917 single nucleotide polymorphisms (SNPs) selected primarily based on prior evidence of a marginal effect. Thirty-eight international studies contributed data for 46 450 breast cancer cases and 42 461 controls of European origin as part of a multi-consortium project (COGS). First, SNPs were preselected based on evidence (P , 0.01) of a per-allele main effect, and all two-way combinations of those were evaluated by a per-allele (1 d.f.) test for interaction using logistic regression. Second, all 2.5 billion possible two-SNP combinations were evaluated using Boolean operation-based screening and testing, and SNP pairs with the strongest evidence of interaction (P , 10(-4)) were selected for ...
Three common mutations in the CARD15 (NOD2) gene are known to be associated with susceptibility to Crohn disease (CD), and genetic data suggest a gene dosage model with an increased risk of 2-4-fold in heterozygotes and 20-40-fold in homozygotes. However, the discovery of numerous rare variants of CARD15 indicates that some heterozygotes for the common mutations have a rare mutation on the other CARD15 allele, which would support a recessive model for CD. We addressed this issue by screening CARD15 for mutations in 100 CD patients who were heterozygous for one of the three common mutations. We also developed a strategy for evaluating potential disease susceptibility alleles (DSAs) that involves assessing the degree of evolutionary conservation of involved residues, predicted effects on protein structure and function, and genotyping in a large sample of cases and controls. The evolutionary analysis was aided by sequencing the entire coding region of CARD15 in three primates (chimp, gibbon, and ...
Pulmonary emphysema is defined as a nonuniform pattern of abnormal, permanent distention of the air spaces with destruction of the alveolar walls and eventually a reduced pulmonary capillary bed. It appears to be the end stage of a process that has progressed slowly for many years. Smoking is the major cause. In a few patients, there is familial predisposition associated with a plasma protein abnormality ( deficiency in alpha-1 antitrypsin), making the person sensitive to environmental factors ( air pollution, infectious agents, allergens). Emphysema manifests commonly in the fifth decade of life and is classified as follows:. ...
Other research groups also have found the G2385R mutation is at a higher frequency in Asian patients with Parkinsons disease, than in matched control subjects. These types of case and control genetic studies provide a powerful tool for researchers to find disease genes and risk factors in homogeneous or isolated populations where there has been little immigration. Interestingly, the present papers authors found evidence to suggest G2385R carriers share a common ancestor. They performed a genetic analysis looking at the inheritance pattern of a specific DNA sequence along chromosome 12 that includes the LRRK2 gene. Examining known genetic markers, which are short stretches of repeated DNA subject to variation in the number of times they repeat, their analysis showed a unique pattern of these DNA sequence markers is almost always passed from generation to generation along with the G2385R variant. Researchers used genetic theory to estimate the level of variation at these genetic markers between ...
Rare variants as low-penetrance alleles Rare variants will not be detectable by population association studies based on the use of linked polymorphic markers, even with very large case/control cohort studies. This is because of low allelic frequency and individually small contributions to the overall inherited susceptibility of a disease. These variants are less common…
Jordan MA, Field J, Butzkueven H, Baxter AG (2014). "Genetic Predisposition, Humans". The Autoimmune Diseases. pp. 341-364. doi ... Genocopy is a trait that is a phenotypic copy of a genetic trait but is caused by a different genotype. When a genetic mutation ... ISBN 0-7167-4939-4. "What is Mitochondrial Disease?". United Mitochondrial Disease Foundation (UMDF). 14 January 2016. Saneto ... identical Mitochondrial DNA mutations may not show up as identical diseases. Genocopies are often seen as diseases that might ...
The Appaloosa has a higher risk of developing ERU than other breeds; this predisposition has a genetic basis. Appaloosas which ... After an acute flare-up, no clinical signs of disease may be seen for a prolonged period, which can vary from a few hours to a ... If the disease is not properly treated, it will eventually lead to blindness. ERU occurs in horses worldwide, but is more ... Horses that suffer from this disease can never be considered cured, although they can be managed by careful use of the therapy ...
A genetic predisposition among East Asians is suggested. The disease is more common in males, with the male to female ratio at ... Genetic predisposition for DPB susceptibility has been localized to two HLA haplotypes (a nucleotide or gene sequence ... Within this area, the search for a genetic cause of the disease has continued. Because many genes belonging to HLA remain ... Cystic fibrosis (CF), a progressive multi-system lung disease, has been considered in the search for a genetic cause of DPB. ...
It quotes him as saying, "ADHD is a prime example of a fabricated disease. ... The genetic predisposition to ADHD is completely ... Eisenberg L, Ascher E and Kanner L. A clinical study of Gilles de la Tourette's disease (maladie des tics) in children. Am J ... He established the usefulness of distinguishing "disease" from "illness". He has highlighted the environmental context as a ... "disease" (what doctors deal with) and "illness" (what patients suffer) a widely cited critique of the oscillation of psychiatry ...
Genetic diseases, like Klinefelter syndrome, Chédiak-Higashi syndrome, ataxia-telangiectasia syndrome. Autoimmune diseases, ... Cerhan JR, Slager SL (November 2015). "Familial predisposition and genetic risk factors for lymphoma". Blood. 126 (20): 2265-73 ... Across all subtypes, 5-year survival for NHL is 71%, ranging from 81% for Stage 1 disease to 61% for Stage 4 disease. Globally ... The Centers for Disease Control and Prevention (CDC) included certain types of non-Hodgkin lymphoma as AIDS-defining cancers in ...
Genetic predisposition plays an important role. If more than one cause is present, progression is more likely and prognosis is ... and improved survival rates from other types of cardiovascular disease (myocardial infarction, valvular disease, and ... For centuries, the disease entity which would include many cases of what today would be called heart failure was dropsy; the ... Heart murmurs may indicate the presence of valvular heart disease, either as a cause (e.g. aortic stenosis) or as a result (e.g ...
Genetic factors are associated with a predisposition to SJS. The cause of SJS is unknown in one-quarter to one-half of cases. ... Viral diseases reported to cause SJS include: herpes simplex virus (possibly; is debated), AIDS, coxsackievirus, influenza, ... Patients with these disorders frequently experience burning pain of their skin at the start of disease. Ulcers and other ... SJS, SJS/TEN, and TEN are considered a single disease with common causes and mechanisms. Individuals expressing certain human ...
Caesar possibly had a genetic predisposition for cardiovascular disease. Suetonius, writing more than a century after Caesar's ... who prefers Ménière's disease; and O. Temkin, The Falling Sickness: A History of Epilepsy from the Greeks to the Beginnings of ...
It is believed that acne aestivalis has a genetic predisposition involved in which people who show acne aestivalis have lower ... This disease was first noticed in Scandinavian men and women between the ages of 20 and 40 years old. The skin eruption would ... Hypersensitivity to the sun may be experienced due to genetic predisposition. It is also speculated that cosmetics and sun care ... The actual mechanism of disease is not very well understood but there are a few speculations. ...
St George-Hyslop, P. H. (2006). "Genetic Factors in the Genesis of Alzheimer's Disease". Annals of the New York Academy of ... Mailis, A; Wade, J (1994). "Profile of Caucasian women with possible genetic predisposition to reflex sympathetic dystrophy: A ... P. Carlen, 1978) Showed genetic predisposition to developing Reflex Sympathetic Dystrophy. (A. Mailis, 1994) Performed the ... Research within the Krembil is directed at the development of treatments for neurodegenerative diseases (Alzheimer's disease, ...
... as genetic concordance is small; still, a familial predisposition for autoimmune disease is often seen. Polymorphisms in COL1A2 ... Therefore, HSCT should be given early in the progression of the disease, before it does damage. Patients with heart disease, ... This is done by replacing blood plasma with a fluid consisting of albumin, and is thought to keep the disease at bay by ... The benefit of ACE inhibitors extends even to those who have to commence dialysis to treat their kidney disease, and may give ...
Miryam, Martinetti (2019-04-20). "Cord blood donation in Pavia: surveying genetic predisposition to coeliac disease". Cite ... infectious diseases, orthopedics, pediatric oncology, robotic surgery, and the study of rare diseases. The hospital also hosts ... "When Should Cardiologists Suspect Anderson-Fabry Disease?". American Journal of Cardiology. 106 (10): 1492-1499. doi:10.1016/j. ...
The cause is not known, although a genetic predisposition is suspected. The length of the nerve is a factor since it is more ... Although uncommon in dogs, bilateral recurrent laryngeal nerve disease may be the cause of wheezing (stridor) when middle-aged ... Horses are subject to equine recurrent laryngeal neuropathy, a disease of the axons of the recurrent laryngeal nerves. ...
assorted factors such as ethnicity, age, or genetic predisposition. If a vaccinated individual does develop the disease ... Vaccines led to the eradication of smallpox, one of the most contagious and deadly diseases in humans. Other diseases such as ... The efficacy or performance of the vaccine is dependent on a number of factors: the disease itself (for some diseases ... Vaccinations of animals are used both to prevent their contracting diseases and to prevent transmission of disease to humans. ...
While a genetic predisposition has been suggested, an unknown mode of inheritance remains. Research programs, mainly in the ... Other Wheaten health issues are renal dysplasia, inflammatory bowel disease, Addison's disease, and cancer. Some Wheatens can ... "Addison's Disease or Hypoadrenocorticism". Scwtca.org. Retrieved 15 April 2017. "SCWTDB.org , Soft Coated Wheaten Terrier ... They are susceptible to various heritable diseases, although are most known for two protein wasting conditions: protein-losing ...
Several risk factors have been proposed, including autoimmune diseases, infections and genetic predisposition. There is ... and thyroid disease. Both bacterial as well as viral pathogens have been implicated in the etiology of LS. A disease that is ... The disease can last for a considerably long time. Occasionally, "spontaneous cure" may ensue, particularly in young girls. ... A link with Lyme disease is shown by the presence of Borrelia burgdorferi in LSA biopsy tissue. Since LS in females is ...
There may be a genetic predisposition to the condition. People who develop OFG often have a history of atopy, such as childhood ... Zbar, AP; Ben-Horin, S; Beer-Gabel, M; Eliakim, R (March 2012). "Oral Crohn's disease: is it a separable disease from orofacial ... Crohn disease can affect any part of gastrointestinal tract, from mouth to anus. When it involves the mouth alone, some authors ... The disease usually presents in adolescence or young adulthood. It may occur in either sex, but males are slightly more ...
Genetic predisposition is also a factor. Since allergies and other chronic inflammatory diseases are largely diseases of the ... Grammatikos, Alexandros P. (8 July 2009). "The genetic and environmental basis of atopic diseases". Annals of Medicine. 40 (7 ... Without that stimuli it becomes more susceptible to autoimmune diseases and allergic diseases, because of insufficiently ... "Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions ...
In the case of feline atopy, hypersensitivity to allergens is due to genetic predisposition. However, various allergies may ... Some allergic diseases and allergies in cats include feline atopic dermatitis, flea allergy dermatitis, feline-mosquito ... In cases of feline atopic dermatitis or atopy in cats, pruritic skin diseases may result; however, signs can also include ... Scott, D. (2001). "Skin Immune System and Allergic Skin Diseases". Muller & Kirk's Small Animal Dermatology. pp. 543-666. doi: ...
Genetic variations in MYH9 may be involved in predisposition to chronic kidney disease (CKD). A haplotype of MYH9 (haplotype E1 ... MYH9-related disease. Mutations in MYH9 cause a Mendelian autosomal-dominant disorder known as MYH9-related disease (MYH9-RD). ... February 2014). "MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on ... "Cochlear implantation is safe and effective in patients with MYH9-related disease". Orphanet Journal of Rare Diseases. 9: 100. ...
Genetic predisposition is also a major factor in determining whether someone will develop melasma. People with the Fitzpatrick ... The incidence of melasma also increases in patients with thyroid disease. It is thought that the overproduction of melanocyte- ... Melasma is thought to be caused by sun exposure, genetic predisposition, hormone changes, and skin irritation. Although it can ... Melasma suprarenale (Latin - above the kidneys) is a symptom of Addison's disease, particularly when caused by pressure or ...
"Genetic predisposition to higher calcium levels linked with increased risk of coronary artery disease". ScienceDaily. Retrieved ... "Nut consumption and incidence of seven cardiovascular diseases". Heart. 104 (19): 1615-1620. doi:10.1136/heartjnl-2017-312819. ...
... and coeliac disease. A genetic predisposition to disease has been thought to be important for some time. Evidence for this ... in more advanced disease Enlarged spleen in more advanced disease Oesophageal varices in more advanced disease Hepatic ... As in all liver diseases, consumption of alcohol should be restricted or eliminated. In patients with advanced liver disease, ... it does not correlate with progression of liver disease, and may even improve or disappear as the disease advances. It is ...
Speakman, John R (July 11, 2007). "Commentary - A Nonadaptive Scenario Explaining the Genetic Predisposition to Obesity: The " ... Adipose tissue and adipokines in health and disease. New York: Humana Press: 193-208. ... It is argued instead that the modern distribution of the obese phenotype likely comes about because of genetic drift in the ... natural selection of thrifty genes or genetic drift following predation release?". International Journal of Obesity. London. 32 ...
About 30-50% of people have another family member afflicted, implying a genetic predisposition. In 2006, researchers at Saga ... Febrile diseases Vigorous exercise A hot, humid environment Symmetry of excessive sweating in hyperhidrosis is most consistent ... James, William; Berger, Timothy; Elston, Dirk (2006). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders ... and various forms of thyroid disease. Use of selective serotonin reuptake inhibitors (e.g., sertraline) is a common cause of ...
... a genetic predisposition to viral heart disease". Nature Medicine. 8 (8): 872-7. doi:10.1038/nm737. PMID 12118246. Nishtala, K ... The amount of virally infected cardiomyocytes varies in different stages of the disease. In a mouse model, at the acute stage ( ... In addition to the genetic defects in dystrophin or other cytoskeletal proteins, a subset of dilated cardiomyopathy is linked ...
2007). A nonadaptive scenario explaining the genetic predisposition to obesity: the "predation release" hypothesis. Cell ... In G. Fantuzzi, and T. Mazzone, (Eds) Adipose tissue and adipokines in health and disease. Humana Press, New York.[ISBN missing ... Speakman's group was the first to link genetic variation to differences in food consumption in humans by examining polymorphic ... 2008). Evolutionary origins of the obesity epidemic: natural selection of thrifty genes or genetic drift following predation ...
Genetic predisposition to kidney cancer (en anglès). Semin Oncol, 2016 Oct; 43 (5), pp: 566-574. PMID: 27899189. DOI 10.1053/j. ... Guillaumon, AT «Hypertensive renal disease» (en anglès). J Vasc Bras, 2014; 13 (1), pp: 1-2. DOI: 10.1590/jvb.2014.001. ISSN: ... Alcendor, DJ «Zika virus infection and implications for kidney disease» (en anglès). J Mol Med (Berl), 2018 Nov; 96 (11), pp: ... Scolaro, JC; Peiris, AN «The Hairy Kidney of Erdheim-Chester Disease» (en anglès). Mayo Clin Proc, 2018 Maig; 93 (5), pp: 671. ...
Alzheimer's Disease. Multifactorially inherited diseases are said to constitute the majority of genetic disorders affecting ... then there is a strong chance that the disease is genetic[citation needed] and that the patient will also be a genetic carrier ... Genetic predisposition. *Nested Association Mapping. *Oncogene. *Genetic susceptibility. References[edit]. *^ Miles, C; Wayne, ... Heritable disease and multifactorial inheritance[edit]. A mutation resulting in a disease state is often recessive, so both ...
The three "hits" - chronological and synergistic - are as follows: genetic predisposition (which predispose higher/lower HPA ... Stress and disease[edit]. The HPA axis is involved in the neurobiology of mood disorders and functional illnesses, including ... The latter scenario may represent maladaptation due to early programming, genetic predisposition, and mismatch. This mismatch ... depending on an individual's genetic predispositions, programming effects of early-life environment, and match or mismatch with ...
... aside from genetic predisposition.[45] The process of turning milk into cheese dates back earlier than 5200 BC.[78] ... Such injury could be the result of infection, celiac disease, inflammatory bowel disease, or other diseases.[1][4] ... Genetic diagnostic[edit]. Genetic tests may be useful in assessing whether a person has primary lactose intolerance. Lactase ... Irritable bowel syndrome, celiac disease, inflammatory bowel disease, milk allergy[1]. Treatment. Decreasing lactose in the ...
Indians are at particularly high risk for atherosclerosis and coronary artery disease. This may be attributed to a genetic ... predisposition to metabolic syndrome and adverse changes in coronary artery vasodilation. NGOs such as the Indian Heart ... Diarrheal diseases are the primary causes of early childhood mortality. These diseases can be attributed to poor sanitation and ... Diseases such as dengue fever, hepatitis, tuberculosis, malaria and pneumonia continue to plague India due to increased ...
"Centers for Disease Control and Prevention (CDC). 17 April 2015. Archived from the original on 22 February 2016. Retrieved 9 ... A predisposition for bladder infections may run in families.[4] This is believed to be related to genetics.[4] Other risk ... A 2010 update by the Infectious Diseases Society of America and the European Society for Microbiology and Infectious Diseases ... Bryan, Charles S. (2002). Infectious diseases in primary care. Philadelphia: W.B. Saunders. p. 319. ISBN 978-0-7216-9056-8. . ...
"Smoking Significantly Increases Risk of Alzheimer's Disease Among Those Who Have No Genetic Predisposition". Pridobljeno dne ... "Alzheimer's disease is associated with non-smoking". Pridobljeno dne 2006-11-06.. ... "Parkinson's disease is associated with non-smoking". Pridobljeno dne 2006-11-06.. ... Fratiglioni, L; Wang, HX (avgust 2000). "Smoking and Parkinson's and Alzheimer's disease: review of the epidemiological studies ...
... there are some indications that there is a genetic predisposition to dysthymia: "The rate of depression in the families of ... GBD 2015 Disease and Injury Incidence and Prevalence, Collaborators. (8 October 2016). "Global, regional, and national ... Genetic, environmental, and psychological factors[2]. Risk factors. Family history, major life changes, certain medications, ... There is some evidence of a genetic basis for all types of depression, including dysthymia. A study using identical and ...
... in genetic evolution that it is not evolution. However, 1) even genetic evolution uses non-vertical transmission through the ... Genes affect cultural evolution via psychological predispositions on cultural learning. Genes encode much of the information ... A culture historical hypothesis". The American Journal of Digestive Diseases. 15: 695-710. doi:10.1007/bf02235991. Cavalli- ... DIT holds that genetic and cultural evolution interacted in the evolution of Homo sapiens. DIT recognizes that the natural ...
... implying a genetic predisposition.[43]. In 2006, researchers at Saga University in Japan reported that primary palmar ... James, William; Berger, Timothy; Elston, Dirk (2006). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders ... hyperhidrosis usually starts during adolescence or even earlier and seems to be inherited as an autosomal dominant genetic ...
I have discovered and described a handful of real neurological and genetic diseases. I am speaking on the chemical imbalance ... "The genetic predisposition to ADHD is completely overrated."). Selle asemel, et tablette välja kirjutada peaksid ... Hyperkinetic Disease' 'hüperkineetiline haigus' Klaus W. Lange jt, 2010 1940 'Minimal Brain Damage' 'minimaalne ajukahjustus' ... J. Schmitt, A. Buske-Kirschbaum, V. Roessner, Is atopic disease a risk factor for attention-deficit/hyperactivity disorder? A ...
This can encompass both the predisposition to certain diseases and health conditions, as well as the habits and behaviors ... Biomedical: all aspects of health, physical and mental, developed within the human body as influenced by genetic make-up. ... disease including cardiovascular disease, cancer, diabetes and chronic lung disease (Shah, 2014). ... "Centers for Disease Control and Prevention. Retrieved 7 August 2012.. *^ "Occupational Safety and Health Administration". U.S. ...
... may be the only manifestation of undiagnosed celiac disease.[11] Both diseases share the same genetic risk ... Research has shown no significant predispositions based on ethnicity.[29] ... "Addison's Disease Self Help Group.. *^ "Adrenal Insufficiency and Addison's Disease". National Endocrine and Metabolic Diseases ... Addison's disease is associated with the development of other autoimmune diseases, such as type I diabetes, thyroid disease ( ...
"Intervertebral Disc Disease". Genetic Welfare Problems of Companion Animals. ufaw.org.uk: Universities Federation for Animal ... The DCA is also worried about potential injuries to dogs, due to their predisposition to back injuries. Another favorite sport ... "Genetic Welfare Problems of Companion Animals. ufaw.org.uk: Universities Federation for Animal Welfare. Retrieved 10 February ... Dachshunds in the same litter may be born in different coat colors depending on the genetic makeup of the parents. The dominant ...
"Archives of Disease in Childhood. 94 (1): 42-46. doi:10.1136/adc.2007.134114. ISSN 0003-9888. PMC 2597689. PMID 18782846.. ... "Genetic Mutations Linked to Stuttering". Children.webmd.com. February 10, 2010. Archived from the original on November 12, 2012 ... Capacity for fluent speech may be affected by a predisposition to the disorder, auditory processing or motor speech deficits, ... Neurogenic stuttering typically appears following some sort of injury or disease to the central nervous system. Injuries to the ...
... genetic) predisposition toward hyperuricemia and/or gout.[21] ... GeneReviews/NCBI/NIH/UW entry on UMOD-Related Kidney Disease ... "Nutrition, Metabolism, and Cardiovascular Diseases : NMCD. 22 (5): 409-416. doi:10.1016/j.numecd.2010.07.012. PMC 3150417. PMID ... "Nutrition, Metabolism, and Cardiovascular Diseases : NMCD. 22 (5): 409-416. doi:10.1016/j.numecd.2010.07.012. PMC 3150417. PMID ... Hyperuricemia of this type is a common complication of solid organ transplant.[10] Apart from normal variation (with a genetic ...
Ideas may relate to age-related diseases (unable to handle environmental or physical stress in combination with genetic pre- ... The following diseases manifest by means of endocrine dysfunction: Cushing syndrome, syndrome of inappropriate antidiuretic ... The root cause is extremely difficult to identify for paraneoplastic syndrome, as there are so many ways the disease can ... Research suggests that patients who are treated with ICIs are more susceptible to CNS disease (since the mechanism of ICIs ...
12] Genetic predisposition is an important predictor of which people are vulnerable to SWSD.[12] ... Bright light treatment is not recommended for patients with light sensitivity or ocular disease. ... and in the International Classification of Diseases (ICD-10). The diagnosis requires the following assumptions :[16][17][18] ... Other studies have reported that night workers have an increased incidence of heart disease, digestive disorders and menstrual ...
Caesar possibly had a genetic predisposition for cardiovascular disease.[143]. Suetonius, writing more than a century after ... who prefers Ménière's disease; and O. Temkin, The Falling Sickness: A History of Epilepsy from the Greeks to the Beginnings of ...
Genetic factors[edit]. Certain individuals are genetically susceptible to developing autoimmune diseases. This susceptibility ... against a backdrop of genetic predisposition and environmental modulation. It is beyond the scope of this article to discuss ... Although this route to autoimmune disease may underlie various degenerative disease states, no diagnostics for this disease ... Any disease that results from such an aberrant immune response is termed an "autoimmune disease". Prominent examples include ...
While a genetic predisposition has been suggested, an unknown mode of inheritance remains.[13] Research programs, mainly in the ... Other Wheaten health issues are renal dysplasia, inflammatory bowel disease, Addison's disease,[15] and cancer. Some Wheatens ... "Addison's Disease or Hypoadrenocorticism". Scwtca.org. Retrieved 15 April 2017.. *^ "SCWTDB.org , Soft Coated Wheaten Terrier ... They are susceptible to various heritable diseases, although are most known for two protein wasting conditions: protein-losing ...
Individuals with a genetic predisposition for GAD are more likely to develop GAD, especially in response to a life stressor.[14 ... but die of the same age-related diseases as the population, such as heart disease, cerebrovascular disease and cancer.[77] ... a b International Classification of Diseases) ICD-10. *^ Spitzer, Robert L.; Kroenke, K; Williams, JB; Löwe, B (2006). "A Brief ... The World Health Organization's Global Burden of Disease project did not include generalized anxiety disorders.[65] In lieu of ...
... signalling that there may be a genetic predisposition in some cases.[4] ... The cause of Ménière's disease is unclear but likely involves both genetic and environmental factors.[1][3] A number of ... The cause of Ménière's disease is unclear but likely involves both genetic and environmental factors.[1][3] A number of ... "Aging and Disease. 6 (1): 38-47. doi:10.14336/AD.2014.0128. ISSN 2152-5250. PMC 4306472. PMID 25657851.. ...
A disease resulting from aggressive chemotherapy". Diseases of the Colon and Rectum. 32 (3): 206-9. PMID 2920627. doi:10.1007/ ... An example target for targeted therapy is the protein produced by the Philadelphia chromosome, a genetic lesion found commonly ... "Platinum-induced ototoxicity in children: a consensus review on mechanisms, predisposition, and protection, including a new ... interstitial lung disease (e.g., bleomycin) and occasionally secondary neoplasm (e.g., MOPP therapy for Hodgkin's disease). ...
... appears to be multifactorial, both in that more than one genetic factor can cause the disease and in that more ... whether the gluten-induced bowel disease is a causative factor or whether these conditions share a common predisposition. ... Other genetic factors have been repeatedly reported in coeliac disease; however, involvement in disease has variable geographic ... Lundin KE, Wijmenga C (September 2015). "Coeliac disease and autoimmune disease-genetic overlap and screening". Nature Reviews ...
... genetic) predisposition toward hyperuricemia and/or gout.[19] ... GeneReviews/NCBI/NIH/UW entry on UMOD-Related Kidney Disease ... Hyperuricemia of this type is a common complication of solid organ transplant.[8] Apart from normal variation (with a genetic ... De Vera M, Rahman MM, Rankin J, Kopec J, Gao X, Choi H (November 2008). "Gout and the risk of Parkinson's disease: a cohort ... In Dalmatian dogs, a lack of uricase (a genetic trait fixed in this breed) contributes to hyperuricemia and corresponding ...
When searching for an unknown gene that may be involved in a disease, researchers commonly use genetic linkage and genetic ... Although there are some genetic predispositions in a small fraction of cancers, the major fraction is due to a set of new ... When studying human genetic diseases, geneticists often use pedigree charts to represent the inheritance of traits.[43] These ... Individuals differ in their inherited tendency to develop cancer,[96] and cancer is a genetic disease.[97] The process of ...
In disease or disorderEdit. The study of executive function in Parkinson's disease suggests subcortical areas such as the ... Advances in neuroimaging techniques have allowed studies of genetic links to executive functions, with the goal of using the ... and/or emotions to override a strong internal predisposition or external lure, and instead do what's more appropriate or needed ... A behavioral genetic analysis". Developmental Psychology. 47 (5): 1410-1430. doi:10.1037/a0023750. PMC 3168720. PMID 21668099. ...
Major depression can strike at virtually any time of life as a function of genetic and developmental pre-disposition in ... Depression is often highly comorbid with other diseases, e.g. cardiovascular disease (myocardial infarction, stroke), diabetes ... The genetic contribution has been estimated as 40-50%. However, combinations of multiple genetic factors may be involved ... Drug addiction may be regarded as a disease of the brain reward system. This system, closely related to the system of emotional ...
Alliance, Genetic; Health, District of Columbia Department of (2010-02-17). Teratogens/Prenatal Substance Abuse. Genetic ... "Centers for Disease Control and Prevention. Retrieved 7 December 2014.. *^ "Hydrocephalus". Mayo Clinic. Retrieved 7 December ... Infants exposed to mercury poisoning in utero showed predispositions to cerebral palsy, ataxia, inhibited psychomotor ... See also: List of genetic disorders. Genetic causes of birth defects include inheritance of abnormal genes from the mother or ...
... that positive experiences to early cannabis use are a significant predictor of late dependence and that genetic predisposition ... "Centers for Disease Control and Prevention. Retrieved 7 May 2018.. *^ E.B., Robertson. "Information on Cannabis Addiction". ... Cannabis use disorder is also recognized in the 11th revision of the International Classification of Diseases (ICD-11),[35] ... a systematic analysis for the Global Burden of Disease Study 2016". The Lancet. Psychiatry. 5 (12): 987-1012. doi:10.1016/S2215 ...
... Researchers from the University of Utah School of Medicine ... First-degree relatives of people with lumbar disc disease had a relative risk of 4.15 of having the disease themselves. In ... report that there is a heritable predisposition to lumbar disc disease, according to a Medscape Medical News article based on a ... Of the people who qualified for the study, 1,254 had at least 1 diagnosis of lumbar disc disease or lumbar disc herniation, ...
A genetic predisposition means that there is an increased chance that a person will develop a disease based on their genetic ... For more information about genetic predisposition to disease:. The Genetic Science Learning Center at the University of Utah ... A genetic predisposition results from specific genetic variations that are often inherited from a parent. These genetic changes ... In people with a genetic predisposition, the risk of disease can depend on multiple factors in addition to an identified ...
Chemical compound and disease context of Genetic Predisposition to Disease. *Genetic predisposition to phenytoin-induced birth ... Chemical compound and disease context of Genetic Predisposition to Disease. *Biological context of Genetic Predisposition to ... Anatomical context of Genetic Predisposition to Disease. *Associations of Genetic Predisposition to Disease with chemical ... Associations of Genetic Predisposition to Disease with chemical compounds. *Atopy is the genetic predisposition toward ...
... local man Josh McCalisters genetic predisposition for heart disease was no match for the 10 half-assed push-ups he does a ... Mans Genetic Predisposition For Heart Disease No Match For 10 Half-Assed Push-Ups He Does Couple Times A Week. ... local man Josh McCalisters genetic predisposition for heart disease was no match for the 10 half-assed push-ups he does a ... Although the push-ups he currently performed already ensured that he would be spared the deadly disease that had been passed ...
Genetic predisposition of the interleukin-6 response to inflammation: implications for a variety of major diseases?. Bennermo M ... such as Alzheimer disease, atherosclerosis, and cardiovascular disease, cancer, non-insulin-dependent diabetes mellitus, ... Considering the central role of IL-6 in a variety of major diseases, the present finding might be of major relevance. ... has been reported to be associated with a variety of major diseases, ...
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis. Pierre-Antoine ... Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis ... Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis ... Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis ...
... peripheral arterial disease, and arterial hypertension. Genetic predisposition to smoking initiation was additionally ... Genetic predisposition to smoking initiation was most strongly and consistently associated with higher odds of coronary artery ... peripheral arterial disease, and arterial hypertension. Click here to read the full article @ European heart journal ... Our primary genetic instrument comprised 361 single-nucleotide polymorphisms (SNPs) associated with smoking initiation (ever ...
Genetic Predisposition to Type 2 Diabetes and Risk of Subclinical Atherosclerosis and Cardiovascular Diseases Among 160,000 ... Genetic Predisposition to Type 2 Diabetes and Risk of Subclinical Atherosclerosis and Cardiovascular Diseases Among 160,000 ... Genetic Predisposition to Type 2 Diabetes and Risk of Subclinical Atherosclerosis and Cardiovascular Diseases Among 160,000 ... Genetic Predisposition to Type 2 Diabetes and Risk of Subclinical Atherosclerosis and Cardiovascular Diseases Among 160,000 ...
Diseases in Twins - genetics - mortality Female Genetic Predisposition to Disease - genetics Humans Longitudinal Studies Male ... Diseases in Twins - diagnosis - genetics Female Genetic Predisposition to Disease - genetics Humans Language Development ... Disease Models, Animal Dose-Response Relationship, Drug Drug Resistance - physiology Genetic Predisposition to Disease - ... Genetic Predisposition to Disease - genetics Health status Humans Male Middle Aged Models, Statistical Mortality Population ...
Find out lifetime risk of diseases such as cancer, heart disease and Alzheimers disease. ... EasyDNA Irelands genetic health test allows you to discover your predisposition to 37 major causes of death. ... View our genetic glossary.. Upgraded Results: Celiac Disease Genetic Testing. For just an additional €40 we can provide you ... Genetic Predisposition Test. €219 Order now Have you ever wondered if the cancer that affected your grandfather could similarly ...
... has discovered several thousands new genetic variants impacting ... ... A new light shed on genetic regulations role in the predisposition to common diseases. September 2, 2012, University of Geneva ... but invaluable since it allows us to understand all the genetic causes that can explain the predisposition to certain diseases. ... Genetic disease risk differences between one individual and another are based on complex aetiology. Indeed, they may reflect ...
Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus. Publication. Publication. Circulation: Genomic ... Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus. Circulation: Genomic and Precision Medicine, 640 ... blood pressure, coronary artery disease, diabetes mellitus, genome-wide association study, risk factors ... Background: Coronary artery disease (CAD) is accelerated in subjects with type 2 diabetes mellitus (T2D). Methods: To test ...
... genetic disease may develop. Single-gene diseases such as cystic fibrosis or Huntingtons disease occur whenever the gene ... Know Your Genetic Predisposition to Various Diseases. And Let Your HSA Pay For It!. November 6, 2008. Vol. 4, Issue 10 ... Multifactorial diseases are those in which there is a genetic "susceptibility" to getting the disease, but where environment ... Most degenerative disease is the result of lifestyle and environmental factors in combination with your particular genetic ...
Genetic Predisposition to Chronic Obstructive Pulmonary Disease and/or Lung Cancer: Important Considerations When Evaluating ... Genetic Predisposition to Chronic Obstructive Pulmonary Disease and/or Lung Cancer: Important Considerations When Evaluating ... Genetic Predisposition to Chronic Obstructive Pulmonary Disease and/or Lung Cancer: Important Considerations When Evaluating ... Genetic Predisposition to Chronic Obstructive Pulmonary Disease and/or Lung Cancer: Important Considerations When Evaluating ...
... genetic predisposition for a condition. However, despite ambitious efforts, there is substantial evidence that chronic diseases ... The high percentage of disease-discordant pairs of monozygotic twins demonstrates the central role of environmental factors ( ... Genetic predisposition to disease Many researchers have long argued that most chronic diseases are caused by humans ... home:alternate:genetic_predisposition [02.13.2019]. sallieq. [Read more] home:alternate:genetic_predisposition [02.13.2019]. ...
Genetic Predisposition to Increased Blood Cholesterol and Triglyceride Lipid Levels and Risk of Alzheimer Disease: A Mendelian ... Genetic predisposition to increased blood cholesterol and triglyceride lipid levels and risk of Alzheimer disease: a mendelian ... Alzheimers Disease Neuroimaging Initiative. Williams, J.. GERAD1 Consortium. Stewart, R.. Sham, P.. Lovestone, S.. Powell, J. ... Although altered lipid metabolism has been extensively implicated in the pathogenesis of Alzheimer disease (AD) through cell ...
Immune genetic predisposition and resistance to Crohns disease of the adult population of Moscow: P-226. ...
CONCLUSIONS: Genetic predisposition to increased blood cholesterol and triglyceride lipid levels is not associated with ... and genetic studies, the molecular mechanisms linking cholesterol and AD pathology are still not well understood and ... Although altered lipid metabolism has been extensively implicated in the pathogenesis of Alzheimer disease (AD) through cell ... Aged, Aged, 80 and over, Alzheimer Disease, Cholesterol, Female, Genetic Predisposition to Disease, Genome-Wide Association ...
T1 - Genetic susceptibility to chronic kidney disease - some more pieces for the heritability puzzle: Genetic predisposition to ... Genetic susceptibility to chronic kidney disease - some more pieces for the heritability puzzle: Genetic predisposition to ... Genetic susceptibility to chronic kidney disease - some more pieces for the heritability puzzle: Genetic predisposition to ... Genetic susceptibility to chronic kidney disease - some more pieces for the heritability puzzle: Genetic predisposition to ...
"Genetic Predisposition to Disease" by people in this website by year, and whether "Genetic Predisposition to Disease" was a ... "Genetic Predisposition to Disease" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ... Below are the most recent publications written about "Genetic Predisposition to Disease" by people in Profiles. ... Below are MeSH descriptors whose meaning is more general than "Genetic Predisposition to Disease". ...
Twin genetic studies have also contributed to the knowledge of the genetic susceptibility of complex diseases; large twin ... The genetic epidemiology of nonalcoholic fatty liver disease: toward a personalized medicine. Clin Liver Dis 2012;16:467-485.. ... Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 2008;40:1461-1465.. ... Genetic predisposition in nonalcoholic fatty liver disease Silvia Sookoian, Carlos J. Pirola. DOI : https://doi.org/10.3350/cmh ...
Genetic Predisposition - the tendency to develop a health condition as a consequence of the interaction between genetics and ... Genetic Predisposition - definition and disease. /Genetics and Molecular Medicine /Genetic Predisposition - definition and ... More articles related to Genetic Predisposition - definition and disease *Genetic Testing - methods and procedures ... Genetic Predisposition Definition. Genetic Predisposition - the tendency to develop a health condition as a consequence of the ...
Genetic Predisposition to Disease. The Resource Genetic Predisposition to Disease. Label Genetic Predisposition to Disease.. ... Genetic Predisposition to Disease. Subject of. * Survival of the sickest : a medical maverick discovers why we need disease ... Data Citation of the Concept Genetic Predisposition to Disease.. Copy and paste the following RDF/HTML data fragment to cite ... Genetic Predisposition to Disease.,/a,,/span, - ,span property=offers typeOf=Offer,,span property=offeredBy typeof= ...
Article containing information on celiac disease symptoms and risk factors. ... Genetic health predisposition test for Celiac Disease in Kenya. ... order your Genetic Predisposition DNA Test for Celiac Disease. ... Genetic Predisposition Testing for Celiac Disease. Celiac Disease is a chronic digestive disorder affecting both children and ... It is known that Celiac disease affects those with a genetic predisposition. It is known that certain genes - HLA-DQ2 and DQ8 ...
Genetic predisposition. Any inherited genetic pattern that may make some individuals more prone than others to certain health ... A genetic mutation in this protein is the basis for a rare inherited form of Parkinsons disease. For more information see ... Sporadic Parkinsons disease is sometimes called idiopathic, meaning that the cause is unknown. Sporadic Parkinsons disease ... Symptoms that affect up to 90 percent of individuals with Parkinsons disease at some time in the course of their disease, and ...
Pagets disease of bone (PDB) is the second most common metabolic bone disorder, after osteoporosis. It is characterised by ... The causes of the disease are poorly understood and it is considered as a complex trait, combining genetic predisposition with ... Genetic Predisposition. PDB shows a strong genetic compound. It has been identified in families since 1883 [32] and it is shown ... Genetic linkage of Paget disease of the bone to chromosome 18q. Am J Hum Genet. 1997;61(5):1117-22.PubMedPubMedCentralCrossRef ...
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  • Particular variations in other genes, such as BARD1 and BRIP1 , also increase breast cancer risk, but the contribution of these genetic changes to a person's overall risk appears to be much smaller. (medlineplus.gov)
  • Although each of these variations only slightly increases a person's risk, having changes in several different genes may combine to increase disease risk significantly. (medlineplus.gov)
  • Researchers are working to calculate an individual's estimated risk for developing a common disease based on the combination of variants in many genes across their genome. (medlineplus.gov)
  • The onset of disease is influenced not only by your genes, but also by other natural and environmental external factors. (easydna.ie)
  • There are certain factors (perhaps the types of foods you eat or your lifestyle habits) which are known to be possible triggers for certain diseases by activating the disease-causing genes. (easydna.ie)
  • Identifying variants which control the activity of many genes is a greater challenge than we anticipated but we are developing appropriate tools to uncover them and understand their contribution to disease," comments Panos Deloukas. (medicalxpress.com)
  • A high-quality reference catalogue of the genetic changes that result in the deactivation of human genes has been developed by a team of researchers. (medicalxpress.com)
  • Our genetic heritage is determined by our DNA, which contain thousand of genes that provide instruction to the cells on how to operate. (hsaforamerica.com)
  • When mutated genes are inherited, genetic disease may develop. (hsaforamerica.com)
  • The Great DNA Data Deficit: Are Genes for Disease a Mirage? (mpkb.org)
  • It is known that certain genes - HLA-DQ2 and DQ8 - are associated with an increased risk of Celiac disease. (easydnakenya.com)
  • Genome-wide association studies enlarged the number of loci associated with PDB, and further fine-mapping studies, combined with functional analysis, identified OPTN and RIN3 as causal genes for Paget's disease. (springer.com)
  • In this review, we summarize the clinical characteristics of the disease and the latest genetic advances to identify susceptibility genes. (springer.com)
  • But diseases can prove much more subtle, as children might inherit the abnormal, dysfunctional genes of their parents even though previous generations never suffered from the symptoms of that disease. (howstuffworks.com)
  • Genetic Predispositions to Diseases Genes are bits of chemical information that determine our characteristics, by carrying hereditary traits from one generation to the next, including everything from eye color to diseases. (howstuffworks.com)
  • Each genetic trait has two genes, which might be identical or might include one gene that is dominant and one that is recessive. (howstuffworks.com)
  • Thus, for every genetic trait, there are two genes. (howstuffworks.com)
  • We support researchers who work towards personalising medicine to help families whose genes leave them at the greatest risk of developing heart and circulatory diseases. (bhf.org.uk)
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. (cdc.gov)
  • The identification of human predisposition genes to severe forms of infectious diseases is important for understanding the mechanisms of pathogenesis, as well as for the detection of the risk groups. (nsu.ru)
  • The most common approaches to the genetic risk estimation include conducting association studies, in which the groups of patients and control individuals are compared using both preliminarily selected candidate genes and using genome-wide analysis. (nsu.ru)
  • This is the first comprehensive study to use a multigenic analysis for bladder cancer, and the data suggest that individuals with a higher number of genetic variations in DNA-repair and cell-cycle-control genes are at an increased risk for bladder cancer, confirming the importance of taking a multigenic pathway-based approach to risk assessment. (nih.gov)
  • According to the American Academy of Periodontology (AAP), scientific studies have found that approximately 30 percent of the population may be genetically predisposed to periodontal disease, with different genes playing a role in susceptibility based on a person's race and ethnic background. (yourdentistryguide.com)
  • A Hcs locus, with high phenotypic effects, and various epistatic gene-gene interactions were identified in rats, suggesting a genetic model of predisposition to hepatocarcinogenesis with different subset of low-penetrance genes, at play in different subsets of population, and a major locus. (uniss.it)
  • that an alteration in the breast cancer predisposition genes BRCA1 and BRCA2, may predispose to prostate cancer (PC) and this study will increase this evidence-base. (knowcancer.com)
  • Some of these diseases that involve malfunctioning cells or systems have their origins in our genes, also known as our DNA. (stayinpink.com)
  • Users have to keep in mind, however, that having a positive result for any of the genes does not mean that the disease is guaranteed to develop. (stayinpink.com)
  • Having the genes for a certain disease is not the end of the story, as there are many factors that influence whether a disease actually develops full blown in the long run of not. (stayinpink.com)
  • This test kit will help many people discover if they need to make changes in their daily lives, to minimize the chances of a disease actually developing if they carry the genes for it. (stayinpink.com)
  • For now, 23andMe is working towards getting more genetic predisposition tests approved so that many more people can be made aware of what they have inherited in their genes. (stayinpink.com)
  • Genetic studies of AD have previously identified pathogenic mutations in three genes ( APP , PSEN1 and PSEN2 ) and polymorphisms in APOE as risk factors. (plos.org)
  • Considering that there is a complex relationship between cells and genes to have metabolism at its optimum, identical Mitochondrial DNA mutations may not show up as identical diseases. (wikipedia.org)
  • The disease is believed to occur when there is susceptibility, or a lack of immune system resistance, to DPB-causing bacteria or viruses, caused by several genes that are found predominantly in individuals of East Asian descent. (wikipedia.org)
  • Several genes within this region of class I HLA are believed to be responsible for DPB, by allowing increased susceptibility to the disease. (wikipedia.org)
  • A genetic predisposition (sometimes also called genetic susceptibility) is an increased likelihood of developing a particular disease based on a person's genetic makeup. (medlineplus.gov)
  • Three…four-ah, Christ-five," McCalister, 38, said to himself, counting off the short set of poorly executed push-ups that were swiftly undoing the susceptibility to coronary artery disease and arrhythmia that was encoded in his very DNA. (theonion.com)
  • Multifactorial diseases are those in which there is a genetic "susceptibility" to getting the disease, but where environment also plays a part. (hsaforamerica.com)
  • A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. (healthsciencessc.org)
  • The disease susceptibility of individuals who constitutionally lack both wild-type alleles is unknown. (bilkent.edu.tr)
  • A growing body of evidence indicates that NAFLD develops from a complex process in which many factors, including genetic susceptibility and environmental insults, are involved. (e-cmh.org)
  • Insights into the topic of the genetic susceptibility in lean individuals with NAFLD and the potential use of genetic tests in identifying individuals at risk are also discussed. (e-cmh.org)
  • Yiu W, Yap M, Fung W, Ng P, Yip S. Genetic susceptibility to refractive error: association of vasoactive intestinal peptide receptor 2 (VIPR2) with high myopia in Chinese. (labome.ru)
  • This is the first study to suggest a role of VIPR2 in the genetic susceptibility to high myopia. (labome.ru)
  • A new preprint research paper posted to the medRxiv server discusses the relationship between severe disease and pre-existing susceptibility to clots and other diseases of the cardiovascular system. (news-medical.net)
  • These risk alleles, when aggregated into a genetic risk score, can provide a continuous measure ofthe overall genetic susceptibility to obesity, T2D, or CAD. (ukbiobank.ac.uk)
  • Genetic predisposition for DPB susceptibility has been localized to two HLA haplotypes (a nucleotide or gene sequence difference between paired chromosomes, that is more likely to occur among a common ethnicity or trait) common to people of East Asian descent. (wikipedia.org)
  • It was suggested that a mutation of a suspected disease-susceptibility gene located somewhere between HLA-B and HLA-A had occurred on an ancestral chromosome carrying both HLA-B54 and HLA-A11. (wikipedia.org)
  • Genetic predisposition to smoking initiation was most strongly and consistently associated with higher odds of coronary artery disease, heart failure, abdominal aortic aneurysm, ischaemic stroke, transient ischaemic attack, peripheral arterial disease, and arterial hypertension. (onmedica.com)
  • Background: Coronary artery disease (CAD) is accelerated in subjects with type 2 diabetes mellitus (T2D). (eur.nl)
  • Genetic predisposition to higher blood pressure increases coronary artery disease risk. (lsh.is)
  • Hypertension is a risk factor for coronary artery disease. (lsh.is)
  • If elevated blood pressure is a causative factor for coronary artery disease, these variants should also increase coronary artery disease risk. (lsh.is)
  • In substudies, individuals carrying most systolic blood pressure- and diastolic blood pressure-related risk alleles (top quintile of a genetic risk score distribution) had 70% (95% confidence interval, 50%-94%) and 59% (95% confidence interval, 40%-81%) higher odds of having coronary artery disease, respectively, as compared with individuals in the bottom quintile. (lsh.is)
  • In conclusion, most blood pressure-associated polymorphisms also confer an increased risk for coronary artery disease. (lsh.is)
  • These findings are consistent with a causal relationship of increasing blood pressure to coronary artery disease. (lsh.is)
  • Genetic variants primarily affecting blood pressure contribute to the genetic basis of coronary artery disease. (lsh.is)
  • Genetic Association of Finger Photoplethysmography-Derived Arterial Stiffness Index With Blood Pressure and Coronary Artery Disease. (lsh.is)
  • Genetic variants primarily associated with type 2 diabetes are related to coronary artery disease risk. (lsh.is)
  • Genetic profiling using genome-wide significant coronary artery disease risk variants does not improve the prediction of subclinical atherosclerosis: the Cardiovascular Risk in Young Finns Study, the Bogalusa Heart Study and the Health 2000 Survey--a meta-analysis of three independent studies. (lsh.is)
  • Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls. (lsh.is)
  • Alternative approaches are warranted to explain disparities of obesity,T2D and CVD risk.To date, large-scale genomewide association studies in Europeans have successfully identified genetic loci robustly associated with risk of obesity, T2D and coronary artery disease (CAD), respectively. (ukbiobank.ac.uk)
  • Studies have shown that when people who suffer with conditions such as diabetes, coronary artery disease and cerebrovascular disease (CVD), or stroke receive periodontal treatments early on, associated medical care costs are reduced. (yourdentistryguide.com)
  • Epidemiologic studies strongly support the assertion that cigarette smoking (CS) in both men and women increases the incidence of myocardial infarction (MI) and fatal coronary artery disease (CAD) (1-11) . (onlinejacc.org)
  • The coronavirus disease 2019 (COVID-19) pandemic was triggered by the uncontrolled spread of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). (news-medical.net)
  • Today, the U.S. Food and Drug Administration expanded the emergency use authorization (EUA) for the Pfizer-BioNTech COVID-19 Vaccine for the prevention of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) to include adolescents 12 through 15 years of age. (news-medical.net)
  • Researchers in The Netherlands have warned that Pfizer-BioNTech's coronavirus disease 2019 (COVID-19) vaccine induces complex reprogramming of innate immune responses that should be considered in the development and use of mRNA-based vaccines. (news-medical.net)
  • An international team of researchers from King's College, Oxford University, Wellcome Trust Sanger Institute and Faculty of Medicine of University of Geneva, has discovered several thousands new genetic variants impacting gene expression some of which are responsible for predisposition to common diseases, bringing closer to the biological interpretation of personal genomes. (medicalxpress.com)
  • With an international team co-led by Professor Tim Spector (Kings College), Professor Mark McCarthy (Oxford University) and Dr. Panos Deloukas (Wellcome Trust Sanger Institute), he publishes a study highlighting thousands of these genetic variants that seem to explain individual differences in gene expression . (medicalxpress.com)
  • The method researchers followed allowed them to uncover nearly 358 variants apparently involved in the predisposition to certain diseases including quantifying the contribution of rare regulatory variants that was previously not possible to identify by conventional analysis methods. (medicalxpress.com)
  • Our work adds to those who have previously demonstrated the contribution of common variants in the predisposition to these disorders", explains Emmanouil Dermitzakis. (medicalxpress.com)
  • Thanks to this new level of knowledge, and if we manage to adapt this methodology to search for these variants in each individual, this will be a powerful tool to help prognose the predisposition to certain diseases and more importantly understand the biological aetiology in order to develop and employ individualized treatments. (medicalxpress.com)
  • Genome-wide association studies (GWAS) and GWAS meta-analyses have identified several genetic loci associated with CKD, including variants in UMOD, SHROOM3, solute carriers, and E3 ubiquitin ligases. (qub.ac.uk)
  • Peng Y, Alexov E, Basu S. Structural Perspective on Revealing and Altering Molecular Functions of Genetic Variants Linked with Diseases. (healthsciencessc.org)
  • To search for genetic variants predisposed to severe forms of infectious diseases, it is expedient to form a control that consists of patients with clinically proven infections with asymptomatic or mild forms of the disease. (nsu.ru)
  • Genetic variants, for which the association with spontaneous recovery during infection with hepatitis C virus, patient's reaction on antiviral drugs, and the development of liver fibrosis was established, were also detected. (nsu.ru)
  • The team split the participants into five equal groups based on the combination of almost 250,000 genetic variants associated with Alzheimer's disease in those of European ancestry. (news-medical.net)
  • However, detection of genetic variants is difficult in genetically heterogeneous human population. (uniss.it)
  • Individual genetic predisposition is known to be important (see discussion of APOL1 risk variants below), and other host and viral factors may also contribute to disease pathogenesis. (oncologynurseadvisor.com)
  • On the basis of 36 established independent diabetes-predisposing variants, a genetic predisposition score (GPS) was calculated. (medicalxpress.com)
  • Background and Objectives: Celiac disease (CD) is a multifactorial immune-mediated disorder, triggered by the ingestion of gluten in genetically-predisposed subjects carrying MHC-DQ2 and -DQ8 heterodimers, which are encoded by four HLA-DQ allelic variants, overall. (edu.kz)
  • Our analyses suggest that genetic variants associated with CSF ptau 181 levels may have a greater impact on rate of progression, while genetic variants such as APOE4 , that are associated with CSF Aβ 42 levels influence risk and onset but not the rate of progression. (plos.org)
  • Finally, we believe genome-wide association studies of CSF tau/ptau 181 levels should identify novel genetic variants which will likely influence rate of progression of AD. (plos.org)
  • Most studies are designed to identify variants associated with risk or age at onset, but rarely cover other important facets of AD, such as disease progression or duration. (plos.org)
  • In this study we have used an established AD biomarker (cerebrospinal fluid tau phosphorylated at threonine 181, ptau 181 ) to find genetic variants that influence levels of ptau 181 in the cerebrospinal fluid. (plos.org)
  • The different frequency of hepatocellular carcinoma (HCC) in humans at risk suggests a polygenic predisposition. (uniss.it)
  • Prion diseases are fatal neurodegenerative disorders that include Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker disease, fatal familial insomnia, kuru, and variant CJD (vCJD) in humans and bovine spongiform encephalopathy (BSE) in cattle and scrapie in sheep ( 1 , 2 ). (pnas.org)
  • An individual's GENOTYPE establishes genetic vulnerability through mechanisms researchers do not fully understand. (beltina.org)
  • However, meta-analysis revealed significant allele and genotype differences between Alzheimer's disease and controls following a recessive model. (labome.ru)
  • Approximately 10% of the world's population have a particular genetic makeup (known as the TT genotype) that may increase their risk of having higher blood pressure. (clinicaltrials.gov)
  • Genocopy is a trait that is a phenotypic copy of a genetic trait but is caused by a different genotype. (wikipedia.org)
  • When a genetic mutation or genotype in one locus results in a phenotype similar to one that is known to be caused by another mutation or genotype in another locus, it is said to be a genocopy. (wikipedia.org)
  • However, genocopies may also be referred to as "genetic mimics", in which the same mutation or specific genotype can result in two unique phenotypes in two different patients. (wikipedia.org)
  • C) has been reported to be associated with a variety of major diseases, such as Alzheimer disease, atherosclerosis, and cardiovascular disease, cancer, non-insulin-dependent diabetes mellitus, osteoporosis, sepsis, and systemic-onset juvenile chronic arthritis. (nih.gov)
  • If you have a family history of breast and ovarian cancer and are looking for a clinical result to confirm if you have the disease-causing variant in the gene or not then you need to order a complete BRCA 1 and 2 test. (easydna.ie)
  • Having your genome scanned is now an affordable option that can give you valuable information about your risk for dozens of diseases, including breast cancer, colon cancer, Crohn's disease, Alzheimer's disease, psoriasis, and more. (hsaforamerica.com)
  • Many people choose to get their genome sequenced if there is a history of breast cancer, Alzheimer's, or some other disease in their family. (hsaforamerica.com)
  • Lu P, Chen M, Wu X, Gu J, Liu Y, Gu R. Genetic polymorphisms of UGT1A7 and cancer risk: evidence from 21 case-control studies. (labome.ru)
  • Removal of this suppressive function with antibodies offers potential novel treatments for cancer, anti- infectives and auto immune diseases. (abdn.ac.uk)
  • thoughts about societal poverty and policy issues, biologic re- sponses, genetic predisposition, and the mechanistic influence of Abstract lifestyle factors on cancer incidence and mortality. (cdc.gov)
  • BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer -predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene . (cdc.gov)
  • Experimental studies on cells and tissues of patients bearing a wide variety of diseases such as cancer, diseases of the nervous system, immune system or of premature ageing are associated with increased radiation sensitivity. (bfs.de)
  • The UK Biobank study was long-term research of older individuals that tracks several factors that contribute to a range of diseases, which include heart disease, cancer, depression, and dementia. (news-medical.net)
  • Moreover, subgroups identified with higher cancer risk also exhibited higher levels of induced genetic damage than did subgroups with lower risk. (nih.gov)
  • Because colorectal cancer-often used interchangeably with colon cancer-is a disease of startling paradoxes. (healthcentral.com)
  • Exposure to carcinogens is one factor behind the large intestine's predisposition toward cancer (after all, carcinogen means a substance that causes cancer). (healthcentral.com)
  • That's why public health organizations like the Centers for Disease Control and Prevention (CDC) and the American Cancer Society recommend that older people (usually defined as 50-plus) get screened for polyps regularly. (healthcentral.com)
  • If you get the most accurate screening test, a colonoscopy, every ten years-or if you get a less accurate screening test on a more frequent schedule-you can short-circuit the process of cancer formation and prevent this deadly disease from ever developing. (healthcentral.com)
  • Dental hygienists are educated to perform oral health care and risk assessments that include the review and documentation of patients' health history, taking and recording blood pressure, dental and periodontal charting, oral cancer screening and evaluation of oral disease/health. (thefreelibrary.com)
  • USPSTF recommends against the use of β -carotene or vitamin E supplements for the prevention of cardiovascular disease or cancer ( 2 ). (unboundmedicine.com)
  • For BRCA, we review the risks of cancer in mutations carriers, criteria for genetic testing, surveillance and risk-reduction strategies, and the safety of prescribing hormone therapy when needed. (tripdatabase.com)
  • Although altered lipid metabolism has been extensively implicated in the pathogenesis of Alzheimer disease (AD) through cell biological, epidemiological, and genetic studies, the molecular mechanisms linking cholesterol and AD pathology are still not well understood and contradictory results have been reported. (le.ac.uk)
  • NEDD9 gene polymorphism influences the risk of Alzheimer disease and cognitive function in Chinese older persons. (labome.ru)
  • In people with a genetic predisposition, the risk of disease can depend on multiple factors in addition to an identified genetic change. (medlineplus.gov)
  • These include other genetic factors (sometimes called modifiers) as well as lifestyle and environmental factors. (medlineplus.gov)
  • Diseases that are caused by a combination of factors are described as multifactorial . (medlineplus.gov)
  • The Coriell Personalized Medicine Collaborative explains genetic and nongenetic risk factors for complex diseases. (medlineplus.gov)
  • The test has been developed using SNPs as risk factors for disease development. (easydna.ie)
  • Changing and taking control of these external factors can decrease your chances of developing the disease. (easydna.ie)
  • When we considered the overall genetic correlations between CAD and its risk factors, we found no substantial differences in these relationships by T2D background. (eur.nl)
  • Most degenerative disease is the result of lifestyle and environmental factors in combination with your particular genetic risks. (hsaforamerica.com)
  • Both genomic and environmental factors contribute to this complex heterogeneous disease. (qub.ac.uk)
  • Hence, knowledge of the disease pathogenesis and predisposing factors is crucial for understanding the disease biology and making decisions on diagnostic or therapeutic interventions, the latter being the main goal of Precision Medicine. (e-cmh.org)
  • Genetic Predisposition - the tendency to develop a health condition as a consequence of the interaction between genetics and lifestyle factors. (beltina.org)
  • These genetic elements influence the effects of environmental factors such as cigarette smoking, physical activity and inactivity, exposure to chemical toxins, ALCOHOL consumption, and nutrition (lack of certain NUTRIENTS or excesses of other nutrients) in the development of disease processes. (beltina.org)
  • The causes of the disease are poorly understood and it is considered as a complex trait, combining genetic predisposition with environmental factors. (springer.com)
  • Heart Matters is our award-winning free magazine for anyone with heart and circulatory diseases and their risk factors. (bhf.org.uk)
  • Risk factors are things which increase the likelihood of developing heart and circulatory diseases. (bhf.org.uk)
  • We fund research into risk factors because if we can reduce or prevent them, fewer people may be affected by heart and circulatory diseases. (bhf.org.uk)
  • Obesity and related metabolic diseases, including type 2 diabetes (T2D) and cardiovascular disease (CVD), are considered to be driven by genetic, environmental and lifestyle factors, including dietary factors. (ukbiobank.ac.uk)
  • Although accumulative evidence demonstrates an inverse association between healthy dietary patterns and the risk of obesity, T2D and CVD, there has been substantial and well-recognized within-population heterogeneity in responseto dietary factors, which may partly result from genetic variation and gene-diet interactions. (ukbiobank.ac.uk)
  • However, whether genetic predisposition to obesity,T2D and CVD could be modified by dietary factors is unclear. (ukbiobank.ac.uk)
  • The examples of the use of these approaches to identify genetic factors that predispose one to severe forms of infections caused by viruses from the Flaviviridae family are considered in the review. (nsu.ru)
  • However, which determining factors are responsible in particular, remains largely unknown apart from a few specific individual diseases. (bfs.de)
  • From there, the researchers assessed the genetic risk by looking at previously published information and determined all known genetic factors of Alzheimer's disease. (news-medical.net)
  • There are many other factors that contribute to the onset of heart disease, diabetes, stroke, etc. (yourdentistryguide.com)
  • Because no single cause has been identified, it's likely that Meniere's disease results from a combination of factors. (mayoclinic.org)
  • The disease may start when certain factors damage the inner layers of the arteries. (easydna.co.nz)
  • Although shared socio-demographic risk factors (e.g. gender, deprivation) might explain the co-morbidity of these three conditions, we hypothesised that these three long-term, highly prevalent conditions co-occur and may be due to shared familial risk, and/or genetic factors. (duhnnae.com)
  • In addition to genetic factors, environmental triggers (in particular viruses, bacteria and other infectious pathogens) are thought to play a major role in the development of autoimmune diseases. (thefreelibrary.com)
  • Viral or bacterial infection Prevention is the best defense against liver disease and being aware of contributing factors can help you protect your dog. (vetinfo.com)
  • While large genome-wide association studies have had some success in identifying novel genetic risk factors for AD, case-control studies are less likely to uncover genetic factors that influence progression of disease. (plos.org)
  • The use of endophenotypes has proven to be an effective strategy, implicating genetic risk factors in several diseases, including anemia, osteoporosis and heart disease. (plos.org)
  • In this study we identify a genetic factor associated with the rate of decline in AD patients and present a methodology for identification of other such factors. (plos.org)
  • However, half of all AD cases have no known genetic risk factors for disease. (plos.org)
  • This study is important because it defines a strategy to find novel genetic factors influencing different facets of AD pathobiology including risk, onset and progression. (plos.org)
  • However, several factors are suspected to be involved with its pathogenesis (the way in which the disease works). (wikipedia.org)
  • Navigenics will screen your entire genome for 1.8 million genetic markers for $2500, and keep updating you as the science continues to expand for only $250 a year. (hsaforamerica.com)
  • Since this technique looks at the sites that differ most from one individual to another, this test is very successful at identifying DNA markers associated with diseases or conditions. (bushu45.cn)
  • Although genome-wide association studies have identified markers that are associated with various human traits and diseases, our ability to predict such phenotypes remains limited. (nih.gov)
  • At present, a number of genetic markers associated with predisposition to tick-borne encephalitis, West Nile fever, and Dengue fever have already been detected. (nsu.ru)
  • Just like this new disease predisposition kit, the ancestry service isolated DNA from saliva samples of consumers and tested them for markers of various racial groups. (stayinpink.com)
  • Researchers at the National Institute of Allergy and Infectious Diseases (NIAID)'s Vaccine Research Center (VRC) and the University of Washington School of Medicine's Institute for Protein Design (IPD) developed a universal flu vaccine candidate using small particles (nanoparticles), which can induce a long-lasting immune response. (news-medical.net)
  • Clinical practice guideline for the diagnosis and management of group a streptococcal pharyngitis: 2012 update by the infectious diseases society of america. (medscape.com)
  • Infectious Diseases represents the key end-use market for DNA probes-based diagnostics worldwide. (prweb.com)
  • Genetic testing is termed as 'the analysis of human DNA, RNA, chromosomes, proteins and certain metabolites' in order to detect heritable disease-related genotypes, mutations, phenotypes or karyotypes for clinical purposes. (dnaforensics.in)
  • Diseases associated with mtDNA are often as a result of mutations in tRNA that play a role in Mitochondrial protein synthesis. (wikipedia.org)
  • Not an easy task, but invaluable since it allows us to understand all the genetic causes that can explain the predisposition to certain diseases. (medicalxpress.com)
  • It is important to keep in mind that rare variations that affect certain diseases may not be covered by a SNP test as they still have not been discovered, or because their incidence is very low. (bushu45.cn)
  • Unlike GENETIC DISORDERS that encode for specific disturbances of structures and functions that inevitably produce a disease state (such as DOWN SYNDROME ), genetic predisposition for a condition does not make that condition certain. (beltina.org)
  • With the evolving information and facts over Genetic and hormonal predispositions, it has been realized that it is not merely an academic exercise but a lot valuable when one considers the human toll in pain and suffering because of these disorders. (dnaforensics.in)
  • Knowing which genetic disorders and diseases you are at risk from will allow you to plan to reduce it by making lifestyle changes such as diet and exercise. (bushu45.cn)
  • The better known genetic disorders include sickle cell anemia, Tay-Sachs disease, and cystic fibrosis, which are more prevalent among certain demographic groups. (howstuffworks.com)
  • Celiac Disease Research: Associated Diseases and Disorders Is there a list of gluten foods to avoid? (celiac.com)
  • Inherited thrombocytopenia syndromes are recognized as a spectrum of clinical disorders, ranging from severe diseases in neonates to mild conditions that are identified incidentally in adults. (blueprintgenetics.com)
  • This will help in detecting diseases, which are not the result of single-gene, or monogenetic disorders. (prweb.com)
  • Once the disease becomes established, its genetic underpinnings may allow more rapid progression of damage or severity of symptoms. (beltina.org)
  • Part of the encyclopedia is a disease dictionary including not only recommendation how to prevent each disease but also its initial symptoms, causes and useful advices about treatment for given illness. (beltina.org)
  • Many of the symptoms of Parkinson's disease are brought on by loss of or damage to dopamine neurons in this region, which encompasses the striatum, the subthalamic nucleus, and the substantia nigra. (michaeljfox.org)
  • [6] Arriving Europeans infected with diseases either possessed them in a dormant state , were actively infected but asymptomatic , or only had mild symptoms because Europe had been subject to a selective process by these diseases, for centuries. (wikipedia.org)
  • This table lists symptoms that people with this disease may have. (cdc.gov)
  • For most diseases, symptoms will vary from person to person. (cdc.gov)
  • People with the same disease may not have all the symptoms listed. (cdc.gov)
  • Do you have more information about symptoms of this disease? (cdc.gov)
  • Subscribe to Celiac.com's FREE weekly eNewsletter What are the major symptoms of celiac disease? (celiac.com)
  • Celiac Disease Symptoms What testing is available for celiac disease? (celiac.com)
  • The signs and symptoms of Alzheimer's disease (AD) may manifest in a person's mid-60s. (news-medical.net)
  • However, it is important to note that the development of gingival inflammation or symptoms of periodontal disease does not mean a person will definitely develop a systemic condition. (yourdentistryguide.com)
  • See your doctor if you have signs or symptoms of Meniere's disease. (mayoclinic.org)
  • Although each autoimmune disease is a distinct entity with its own constellation of signs, symptoms and clinical manifestations, many autoimmune diseases share some common characteristics, including the approach to disease management. (thefreelibrary.com)
  • Daily treatment of DPB with macrolide antibiotics such as erythromycin eases symptoms and increases survival time, but the disease currently has no known cure. (wikipedia.org)
  • Chronic kidney disease (CKD) is a major global health problem with an increasing prevalence partly driven by ageing population structure. (qub.ac.uk)
  • Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease whose prevalence has reached global epidemic proportions. (e-cmh.org)
  • Celiac Disease is a chronic digestive disorder affecting both children and adults. (easydnakenya.com)
  • www.cdc.gov/pcd/issues/2020/20_0183.htm Preventing Chronic Disease. (cdc.gov)
  • Accordingly, it appears that an individual genetic background has partly determined his predisposition for AD by the extent of the inflammation response to the chronic stimulus by beta- amyloid peptide (Abeta) deposits and other antigen stressor in the elderly . (bvsalud.org)
  • Abstract: BACKGROUND: Depression and chronic pain are the two most important causes of disability (Global Burden of Disease Study 2013). (duhnnae.com)
  • They suffer from a severe chronic disease! (marioninstitute.org)
  • In the US, the rapid growth of DNA-based diagnostics is leading to the development of new tests for the treatment of non-contagious diseases, such as diseases related to aging or chronic diseases. (prweb.com)
  • Unlike DPB, bronchiolitis that is not considered "primary" would be associated with diseases of the larger airways, such as chronic bronchitis. (wikipedia.org)
  • Linkage analysis identified SQSTM1 , at chromosome 5q35, as directly related to the disease. (springer.com)
  • Further, it is possible that a number of genetic recombination events around the disease locus (location on a chromosome) could have resulted in the disease being associated with HLA-B54 in the Japanese and HLA-A11 in Koreans. (wikipedia.org)
  • Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans. (healthsciencessc.org)
  • Over the past decade, an increasing amount of scientific evidence has shown an association between periodontal disease - along with the bacteria that cause it - and systemic diseases affecting other areas of the body, such as cardiovascular disease, diabetes, stroke and preterm low birth weight babies. (yourdentistryguide.com)
  • Driving the link between oral disease and systemic conditions is the fact that periodontal bacteria can enter the bloodstream and travel to other parts of the body, where it can initiate new infections, trigger or exacerbate an inflammatory response. (yourdentistryguide.com)
  • Studies have shown that with the treatment of gum disease, both the periodontal inflammation and systemic inflammation may decrease. (yourdentistryguide.com)
  • Recent scientific studies show strong correlations between oral and systemic disease, creating a crucial need for increased communication between the medical and dental professions. (thefreelibrary.com)
  • HGE in dogs tends to onset quickly and may be very severe, in some cases leading to pancreatitis and/or life-threatening systemic disease. (hillspet.com)
  • Immune genetic predisposition and resistance to Crohn's disease of the adult population of Moscow: P-226. (ovid.com)
  • NAFLD is a heritable and complex trait, the genetic component of which has been explored by a myriad of studies that used different approaches illustrated in Figure 1 . (e-cmh.org)
  • Peripheral Arterial Disease occurs when not enough blood is able to reach the organs and extremities, such as the legs, arms, head, kidneys and stomach. (easydna.co.nz)
  • What causes Peripheral Arterial disease? (easydna.co.nz)
  • It is thought that there is also a strong genetic predisposition to developing peripheral arterial disease and a family history of high blood pressure, high blood cholesterol, heart disease and stroke will also predisposition towards the development of this condition. (easydna.co.nz)
  • Researchers have developed a valuable mouse genetic blueprint that will accelerate future research and understanding of human genetics. (medicalxpress.com)
  • Many doctors and researchers believe knowing of genetic predispositions gives an individual the opportunity to engage in lifestyle modifications to prevent health problems from developing. (beltina.org)
  • With models, researchers can study the mechanisms of a disease and test therapies. (michaeljfox.org)
  • A team of researchers at the University of Exeter found that living a healthy lifestyle, including eating a good diet and having regular exercise, may help people with a high genetic risk of dementia, to counterbalance developing it. (news-medical.net)
  • The researchers found that the risk of dementia decreased by 32 percent in people with a high genetic risk if they followed a healthy lifestyle, compared to those who had an unhealthy lifestyle. (news-medical.net)
  • HSE University researchers have become the first in the world to discover genetic predisposition to severe COVID-19. (ehealthweek2010.org)
  • The cause of radiation sensitivity may be the insufficient repair and/or misrepair of the radiation-damaged genetic material of the cells ( DNA ), for instance due to defective repair mechanisms. (bfs.de)
  • Thus, the evidence linking cigarette smoke exposure with cardiovascular disease is clearly present, yet the exact components of cigarette smoke and the mechanisms responsible for this association have not been clearly elucidated. (onlinejacc.org)
  • This article updates the present clinical and experimental observations on the potential pathobiology and mechanisms involved in smoking-related cardiovascular disease ( Fig. 1 ). (onlinejacc.org)
  • The bold boxes and arrows in the flow diagram represent the probable central mechanisms in the complex pathophysiology of cigarette-smoking-mediated athero-thrombotic disease. (onlinejacc.org)
  • Understanding the basic mechanisms of genetic predisposition to myeloid malignancies may inform surveillance strategies and lead to novel therapies. (aamds.org)
  • These findings have led to a better understanding of the underlying disease mechanisms. (plos.org)
  • Genetic testing now offers a powerful diagnostic approach but also poses new challenges and caveats. (aamds.org)
  • EasyDNA Ireland offers a revolutionary DNA test that allows you to discover your predisposition towards cardiovascular conditions, cancers, immune system, general health issues and more. (easydna.ie)
  • easyDNA Kenya offers you the opportunity to determine your predisposition for important health conditions such as cardiovascular conditions, cancers, diabetes and obesity. (easydnakenya.com)
  • International Biosciences provide genetic testing to determine your genetic predisposition for many important health conditions including cancers, cardiovascular/cerebrovascular conditions, diabetes and obesity. (bushu45.cn)
  • In observational studies, type 2 diabetes is associated with 2- to 4-fold higher risks of cardiovascular diseases (CVD). (diabetesjournals.org)
  • In conclusion, among Chinese adults, genetic predisposition to type 2 diabetes was associated with atherosclerotic CVD, consistent with a causal association. (diabetesjournals.org)
  • Doctors believe genetic influences underlie many if not all health conditions that develop over time, such as HYPERTENSION (high BLOOD PRESSURE ), ATHEROSCLEROSIS , OSTEOARTHRITIS , RENAL FAILURE , LIVER disease, and type 2 DIABETES . (beltina.org)
  • It tends to be more common in people who have Type 1 diabetes, Autoimmune thyroid disease, Down syndrome, and Microscopic colitis, particularly collagenous colitis. (easydnakenya.com)
  • ii) to explore potential interactions between dietary patterns and genetic risk scores on risk of developing obesity, diabetes and CVD, respectively. (ukbiobank.ac.uk)
  • The presence of periodontal disease in pregnant women has been linked to preterm births, gestational diabetes, preeclampsia (a sudden rise in blood pressure late in pregnancy), delivery of low birth weight babies and fetal loss. (yourdentistryguide.com)
  • For patients with type 2 diabetes, having a genetic predisposition towards the disease is associated with an increased risk of cardiovascular disease, according to a study published online Oct. 15 in Diabetes Care . (medicalxpress.com)
  • HealthDay)-For patients with type 2 diabetes (T2D), having a genetic predisposition towards the disease is associated with an increased risk of cardiovascular disease (CVD), according to a study published online Oct. 15 in Diabetes Care . (medicalxpress.com)
  • For just an additional €40 we can provide you with an advanced report on Celiac Disease. (easydna.ie)
  • In Celiac disease, the body reacts abnormally to the presence of gluten, a protein found in wheat, barley and rye in the stomach. (easydnakenya.com)
  • How do you get Celiac Disease? (easydnakenya.com)
  • The cause of Celiac disease is still not fully understood. (easydnakenya.com)
  • It is known that Celiac disease affects those with a genetic predisposition. (easydnakenya.com)
  • This Celiac.com FAQ on celiac disease will guide you to all of the basic information you will need to know about the disease, its diagnosis, testing methods, a gluten-free diet, etc. (celiac.com)
  • Celiac Disease Screening Interpretation of Celiac Disease Blood Test Results Can I be tested even though I am eating gluten free? (celiac.com)
  • Ten Facts About Celiac Disease Genetic Testing Is there a link between celiac and other autoimmune diseases? (celiac.com)
  • At Celiac.org, the Celiac Disease Foundation offers a variety of resources and provides information on the treatment of CD, tips on living gluten-free, and support-group contact information. (medscape.com)
  • Association study of clusterin polymorphism rs11136000 with late onset Alzheimer's disease in Chinese Han population. (labome.ru)
  • However, we treat numerous similar cases - most of which occurred after the patient had received the second vaccination "against" viral diseases. (marioninstitute.org)
  • Alzheimer's disease is the most common form of dementia. (bushu45.cn)
  • Clusterin (rs11136000) was associated with Alzheimer's disease in Chinese Han population. (labome.ru)
  • The new study could open doors to new information on treating Alzheimer's disease, which is the most common type of dementia. (news-medical.net)
  • What is Alzheimer's disease? (news-medical.net)
  • Alzheimer's disease (AD) is a neurodegenerative disease and a form of dementia that affects a person's memory and thinking skills. (news-medical.net)
  • In the United States alone, an estimated 5.8 million people have Alzheimer's disease, making it the 6th leading cause of mortality or death in the country. (news-medical.net)
  • Inflammation has been shown to play an important role in the progression of Alzheimer's disease (AD). (bvsalud.org)
  • Alzheimer's Disease (AD) is a complex and multifactorial disease. (plos.org)
  • Alzheimer's disease (AD) is the most common neurodegenerative disease affecting more than 4.5 million people in the US. (plos.org)
  • The grantee organization is the Northern California Institute for Research and Education, and the study is coordinated by the Alzheimer's Disease Cooperative Study at the University of California, San Diego. (plos.org)
  • A genetic mutation in this protein is the basis for a rare inherited form of Parkinson's disease. (michaeljfox.org)
  • The purpose of this molecular genetic test is to ascertain whether you, or the person being tested, are carrying mutation(s) predisposing to or causing the specific conditions or diseases covered by the test. (bushu45.cn)
  • Detecting a genetic mutation is not equivalent with neoplasm development at a given moment. (cbdna.eu)
  • In comparison to when a phenotype is the result of an environmental condition that had the same effect as a previously known genetic factor such as mutation. (wikipedia.org)
  • Genocopies are often seen as diseases that might be caused by the same mutation but do not result in identical expression. (wikipedia.org)
  • CONCLUSIONS: Genetic predisposition to increased blood cholesterol and triglyceride lipid levels is not associated with elevated LOAD risk. (ox.ac.uk)
  • Too much 'bad' cholesterol increases your risk of developing heart and circulatory diseases. (bhf.org.uk)
  • PURPOSE: This randomized phase I trial is studying the side effects and best dose of celecoxib in treating young patients with a genetic predisposition for familial adenomatous polyposis. (clinicaltrials.gov)
  • Other diseases include Phenylketonuria, autosomal dominant disease, hemophilia, muscular dystrophy and may include conditions like cleft lip, spina bifida and Down syndrome. (howstuffworks.com)
  • Streptococcal toxic-shock syndrome: spectrum of disease, pathogenesis, and new concepts in treatment. (medscape.com)
  • Streptococcus pyogenes causing toxic-shock-like syndrome and other invasive diseases: clonal diversity and pyrogenic exotoxin expression. (medscape.com)
  • 23andMe is a Google-backed company that will provide feedback on over 90 traits and diseases for just $400. (hsaforamerica.com)
  • Specific, measurable physical traits used to determine or indicate the effects or progress of a disease or condition. (michaeljfox.org)
  • Certain cultural and biological traits made Native Americans more susceptible to these diseases. (wikipedia.org)
  • The degree of radiation sensitivity depends upon the combination of various genetic traits and how they interact with each other. (bfs.de)
  • An alternative approach to identifying genetic risk for AD is the use of quantitative traits or endophenotypes. (plos.org)
  • Dental hygienists deliver effective oral hygiene care to individuals diagnosed and not yet diagnosed with an autoimmune disease. (thefreelibrary.com)
  • Any disease that results from an aberrant immune response is termed an autoimmune disease. (thefreelibrary.com)
  • Although the disease is relatively benign in the early stages, when severe clinical forms, including nonalcoholic steatohepatitis (NASH), cirrhosis and even hepatocellular carcinoma, occur, they result in worsening the long-term prognosis. (e-cmh.org)
  • A movement disorder sometimes confused with Parkinson's disease that manifests in low, repetitive, involuntary, writhing movements of the arms, legs, hands, and neck that are often especially severe in the fingers and hands. (michaeljfox.org)
  • The aim of our study was to examine the association between genetic predisposition to T2D and the risk of severe CAD among patients with acute coronary syndromes (ACS) undergoing angiography. (cdc.gov)
  • Thus, the need to stratify the risk of severe or critical disease in patients presenting with SARS-CoV-2 infection remains a crying necessity. (news-medical.net)
  • In severe gum disease, the supporting bone around the teeth recedes and expose the root. (healthline.com)
  • if a person has a set that is bad at such detection, a more severe case of disease is more likely to be observed. (ehealthweek2010.org)
  • The high precision of prediction was confirmed on this independent sample as well: the risk score of patients suffering severe COVID-19 was significantly higher than in patients with moderate and mild cases of the disease. (ehealthweek2010.org)
  • For example, we will be able to detect groups of patients for whom infection with new strains of SARS-CoV-2 can lead to more severe forms of the disease. (ehealthweek2010.org)
  • The liver is susceptible to a variety of diseases and conditions. (vetinfo.com)
  • Pertussis vaccination may activate a genetic predisposition for encephalopathy in susceptible individuals. (greenmedinfo.com)
  • The cases presented in this article illustrate challenges to the diagnosis of germline genetic predisposition to MDS and how the diagnosis affects clinical management and treatment. (aamds.org)
  • In theory, two people could thus share a gene that is perfectly identical and yet show differences in their predisposition to a disease due to genetic differences concerning the regulation (overexpression or underexpression) of this same gene. (medicalxpress.com)
  • Single-gene diseases such as cystic fibrosis or Huntington's disease occur whenever the gene itself occurs. (hsaforamerica.com)
  • Unless you have a single-gene disease, the results will only show risks, and will not tell you for sure whether you will get the disease. (hsaforamerica.com)
  • Genetic Diseases The risk of a genetic disease increases if both parents carry the dysfunctional, abnormal gene, even if they are nonsymptomatic carriers. (howstuffworks.com)
  • Central to any discussion of hereditary diseases is an understanding of the basis of heredity -- the gene. (howstuffworks.com)
  • Variation in radiation sensitivity may be partly caused by changes in gene products (proteins), which ensure that the genetic material ( DNA ) is maintained and damage is repaired. (bfs.de)
  • The candidate-gene approach in association studies of polygenic diseases has often yielded conflicting results. (nih.gov)
  • Anyone who tests positive for a disease gene with this kit is advised to seek the opinions of a doctor or genetic counselor on what they can do to protect themselves from it, or in the very least how to manage it if it does develop. (stayinpink.com)
  • The disease gene may be transmitted either in an autosomal-dominant fashion or in an autosomal-recessive fashion, with limited penetrance. (medscape.com)
  • However, the disease gene has not yet been identified. (medscape.com)
  • The common genetic background and similarities in the HLA profile of affected Japanese and Korean individuals were considered in the search for a DPB gene. (wikipedia.org)
  • A combination of risk alleles identified by genome-wide association studies led to the development of a score to predict disease severity, which could improve the management of the disease. (springer.com)
  • The fact that different alleles accounted for the risk in different population might suggest that there were ethnic group specific haplotypes that were primarily responsible for the predisposition. (labome.ru)
  • In this review, we focused on the genetic component of NAFLD, with special emphasis on the role of genetics in the disease pathogenesis and natural history. (e-cmh.org)
  • Chopra P, Gulwani H. Pathology and pathogenesis of rheumatic heart disease. (medscape.com)
  • You can also learn more about genetic consultations from Genetics Home Reference. (cdc.gov)
  • Pei L, Zhu H, Zhu J, Ren A, Finnell R, Li Z. Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China. (labome.ru)
  • Of the people who qualified for the study, 1,254 had at least 1 diagnosis of lumbar disc disease or lumbar disc herniation, along with the requisite genealogical data. (apta.org)
  • Brock the Boxers diagnosis was not a complete shock to his owner the breeder had explained to Andrian that Boxers had a genetic predisposition to heart problems, and at young age, a heart murmur had been detected. (dogslife.com.au)
  • The diagnosis of a genetic predisposition to MDS informs clinical care and treatment selection. (aamds.org)
  • Autoimmune diseases are difficult to diagnose and require a thorough examination of the patient's history, blood tests and physical examination for a definitive diagnosis. (thefreelibrary.com)
  • High blood pressure affects as many as 16 million people in the UK, increasing the risk of heart disease and stroke. (bhf.org.uk)
  • The opinions expressed by authors contributing to this journal do not necessarily reflect the opinions of the U.S. Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. (cdc.gov)
  • Centers for Disease Control and Prevention. (medscape.com)
  • A genetic predisposition results from specific genetic variations that are often inherited from a parent. (medlineplus.gov)
  • Our results will assess just how likely you are of developing the 35 diseases we test for over the course of your life. (easydna.ie)
  • Why not consult a genetic counsellor about your results? (easydna.ie)
  • Our genetic counsellor is ideal if you have any concerns about your DNA test results. (easydna.ie)
  • It is important to understand that due to the complexity of DNA based testing and the important implications of the test results, we strongly suggest you consult your doctor or a genetic counsellor to help interpret your results. (bushu45.cn)
  • Because of many difficulties and often wrong interpretation of genetic test results, it is recommended that each genetic test result should be consulted with specialist genetic advisory clinic. (cbdna.eu)
  • Due to the fact that genetic tests are specific type of tests, and their results may have huge influence on patients and their families' personal life, tests on genetic predisposition for neoplasm may only be performed for adult people, who express conscious consent for making such genetic tests. (cbdna.eu)
  • This genetic disease predisposition kit was actually released for sale in 2014, but the FDA put a halt on sales due to fear that the test may not produce accurate results, especially false positives. (stayinpink.com)
  • The aim of this study was to use Mendelian randomization (MR) to determine the causality of the association between smoking and 14 different cardiovascular diseases (CVDs).Our primary genetic instrument comprised 361 single-nucleotide polymorphisms (SNPs) associated with smoking initiation (ever smoked regularly) at genome-wide significance. (onmedica.com)
  • Arm I: Patients receive oral celecoxib twice daily for 3 months in the absence of disease progression or unacceptable toxicity. (clinicaltrials.gov)
  • Genetic counselling is ideal in cases where you opt for a clinical test or health test but you can also consult our counsellor for any other test including parentage testing, prenatal testing and relationship testing. (easydna.ie)
  • One of the cardinal clinical features of Parkinson's disease, the slowing down and loss of spontaneous and voluntary movement. (michaeljfox.org)
  • Here, we directly compare the transmission properties of kuru prions with sporadic, iatrogenic, and variant Creutzfeldt-Jakob disease (CJD) prions in Prnp -null transgenic mice expressing human prion protein and in wild-type mice. (pnas.org)