Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Polymorphism, Genetic: 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.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Pedigree: 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.Germ-Line Mutation: 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.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Case-Control Studies: 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.Risk Factors: 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.Disease Susceptibility: 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.Genetic Testing: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Haplotypes: 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.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Family Health: 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.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Mutation: 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.Neoplastic Syndromes, Hereditary: 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.Gene-Environment Interaction: The combined effects of genotypes and environmental factors together on phenotypic characteristics.Pelvimetry: 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.Age of Onset: 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.Genetic Association Studies: 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.Heredity: The transmission of traits encoded in GENES from parent to offspring.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Disease Models, Animal: 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.Genome-Wide Association Study: 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.HLA-DQ Antigens: 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.Twins, Monozygotic: 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.Family: A social group consisting of parents or parent substitutes and children.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Obesity: 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).HungaryPenetrance: 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)Diabetes Mellitus, Type 2: 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.HLA-DQ beta-Chains: Transmembrane proteins that form the beta subunits of the HLA-DQ antigens.Genetic Loci: 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.Genetic Variation: Genotypic differences observed among individuals in a population.Linkage Disequilibrium: 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.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.Genes, BRCA1: 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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Diseases in Twins: Disorders affecting TWINS, one or both, at any age.Microsatellite Repeats: 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).Cohort Studies: 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.HLA-DRB1 Chains: 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.Neoplasms, Multiple Primary: 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.Risk: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.Environment: The external elements and conditions which surround, influence, and affect the life and development of an organism or population.Neoplasms: 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.Causality: 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.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Age Factors: 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.Incidence: 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.Autoimmune Diseases: Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.Homozygote: An individual in which both alleles at a given locus are identical.Polymorphism, Single-Stranded Conformational: 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.Neoplasms, Second Primary: 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.Polymerase Chain Reaction: 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.Breast Neoplasms: Tumors or cancer of the human BREAST.Odds Ratio: 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.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.Risk Assessment: 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)HLA Antigens: 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.Mice, Inbred Strains: 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.Autoimmunity: Process whereby the immune system reacts against the body's own tissues. Autoimmunity may produce or be caused by AUTOIMMUNE DISEASES.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Thyroiditis, Autoimmune: 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.Syndrome: A characteristic symptom complex.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Liver Cirrhosis, Biliary: 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.HLA-DR Antigens: 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.Hypertension: 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.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Body Mass Index: 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)Autoantibodies: Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.Celiac Disease: 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.Crohn Disease: 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.Prevalence: 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.Polymorphism, Restriction Fragment Length: 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.Infant, Newborn: An infant during the first month after birth.Smoking: Inhaling and exhaling the smoke of burning TOBACCO.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Siblings: Persons or animals having at least one parent in common. (American College Dictionary, 3d ed)Schizophrenia: A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Diabetic Nephropathies: 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.Diabetes Mellitus, Type 1: 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.Twins, Dizygotic: 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.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Skin Neoplasms: Tumors or cancer of the SKIN.Environmental Exposure: 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.Mice, Inbred C57BLSex Factors: 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.Crosses, Genetic: 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.Peptidyl-Dipeptidase A: 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 220.127.116.11.China: A country spanning from central Asia to the Pacific Ocean.Molecular Sequence Data: 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.Promoter Regions, Genetic: 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.Alcoholism: 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)Life Style: Typical way of life or manner of living characteristic of an individual or group. (From APA, Thesaurus of Psychological Index Terms, 8th ed)JapanRecQ Helicases: 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.GermanyDiet: Regular course of eating and drinking adopted by a person or animal.Exons: 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.Chi-Square Distribution: 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.Genome, Human: 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.Species Specificity: 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.Disease Progression: 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.Sjogren's Syndrome: 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.DNA-Binding Proteins: 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.Lupus Erythematosus, Systemic: 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.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Models, Genetic: 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.Bloom Syndrome: 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.Prospective Studies: 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.Brain: 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.France: 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.Colitis, Ulcerative: 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.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.Logistic Models: 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.Anxiety: Feeling or emotion of dread, apprehension, and impending disaster but not disabling as with ANXIETY DISORDERS.Fanconi Anemia: 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)Inflammation: 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.Li-Fraumeni Syndrome: 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.Inflammatory Bowel Diseases: Chronic, non-specific inflammation of the GASTROINTESTINAL TRACT. Etiology may be genetic or environmental. This term includes CROHN DISEASE and ULCERATIVE COLITIS.Stress, Psychological: Stress wherein emotional factors predominate.Colorectal Neoplasms: 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.DNA: 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).Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Body Weight: The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.Epigenesis, Genetic: 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.Carcinogens: 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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Motor Activity: The physical activity of a human or an animal as a behavioral phenomenon.Immunity, Innate: 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.Ethanol: 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.Proteins: 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.Mice, Knockout: 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.Models, Biological: 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.UtahAging: The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.United StatesReference Values: 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.Biological Markers: 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.Alcohol Drinking: Behaviors associated with the ingesting of alcoholic beverages, including social drinking.Signal Transduction: 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.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Analysis of Variance: A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.Oligonucleotide Array Sequence Analysis: 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.Lung Neoplasms: Tumors or cancer of the LUNG.Homeostasis: The processes whereby the internal environment of an organism tends to remain balanced and stable.Adenocarcinoma: A malignant epithelial tumor with a glandular organization.Cytokines: 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.Ataxia Telangiectasia: 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).Adipose Tissue: 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.BRCA2 Protein: 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)Prognosis: 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.Blood Pressure: PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.Cardiovascular Diseases: Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.Questionnaires: 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.DNA Repair: 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.Rothmund-Thomson Syndrome: 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.African Americans: Persons living in the United States having origins in any of the black groups of Africa.Adenomatous Polyposis Coli: 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.Tumor Necrosis Factor-alpha: 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.Regression Analysis: 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, Messenger: 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.Colorectal Neoplasms, Hereditary Nonpolyposis: 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.Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Retrospective Studies: 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.Insulin Resistance: 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.Gene Expression Regulation: 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.Mice, Inbred BALB CAsthma: 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).Peutz-Jeghers Syndrome: 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.Magnetic Resonance Imaging: 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.Intestinal Mucosa: 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.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Registries: The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers.Follow-Up Studies: 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.BRCA1 Protein: 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)Longitudinal Studies: Studies in which variables relating to an individual or group of individuals are assessed over a period of time.Insulin: 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).Genes, BRCA2: 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)Blood Glucose: Glucose in blood.Nijmegen Breakage Syndrome: 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.Fanconi Anemia Complementation Group Proteins: 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.Tumor Suppressor Proteins: 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.Neurofibromatoses: 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)Werner Syndrome: 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.Basal Cell Nevus Syndrome: 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.DNA Helicases: 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: 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.Ataxia Telangiectasia Mutated Proteins: 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.Beckwith-Wiedemann Syndrome: 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 Serological Subtypes: 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.
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)
Biological processes, properties and molecular wiring diagrams of candidate low-penetrance breast cancer susceptibility genes |...
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 ...
Benefits of a healthy diet greater in people at high genetic risk for obesity | BMJ
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
NCI Releases Preliminary Data on Genetic Susceptibility for Prostate Cancer - News Releases - Cancer Genetic Markers of...
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 one start testing with hereditary predisposition to cancer? | NEWS.am Medicine - All about health and...
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 ...
Immunochip Analysis Identification of 6 Additional Susceptibility Loci for Crohn's Disease in Koreans
Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome |...
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. ...
Institute of Cancer Research Repository - Genetic advances in glioma: susceptibility genes and networks
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.. ...
EGFR-T790M Is a Rare Lung Cancer Susceptibility Allele with Enhanced Kinase Activity | Cancer Research
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 ...
Screening Women at High Genetic Risk for Ovarian Cancer - Full Text View - ClinicalTrials.gov
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. ...
ASMscience | Human Susceptibility and
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
Genetic risk prediction in complex disease. - Oxford Big Data Institute
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
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. ...
Are We Ready to Screen for Inherited Susceptibility to Cancer?
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.
How Can Correct Nutrition Prevent Genetic Predisposition to Ailments
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: ...
Lauren Weiss, PhD | Biomedical Sciences Graduate Program
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, ...
Generation of primary human intestinal T cell transcriptomes reveals differential expression at genetic risk loci for immune...
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 ...
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 ...
Pancreatic Cancer Causes and Risk Factors | Pancreatic Cancer Prevention, Hereditary Predisposition
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.
Ovarian cancer and hereditary predisposition | This Changed My Practice
UCHL-1 is not a Parkinson's disease susceptibility gene. - Surrey Research Insight Open Access
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 ...
Liver Diseases Genetics & Genomics | NIDDK
Flat-Coated Retriever - Disease Predisposition | Pedigree Dog Health
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 ...
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 ...
Differential Susceptibility - Are some brains more plastic than others? - GenerallyThinking.com
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 ...
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report | Journal of Medical...
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 ...
Articles about Genetic Predisposition - tribunedigital-sunsentinel
Genetic Aspects of Gene Regulation | Frontiers Research Topic
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
Investigating the viability of genetic screening/testing for RA susceptibility using combinations of five confirmed risk loci<...
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. ...
NIOSHTIC-2 Publications Search - 20024400 - Ethnic differences in cancer incidence: a marker for inherited susceptibility?
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
Is cardiac health all in your genes?
Are We Ready to Screen for Inherited Susceptibility to Cancer? | Cancer Network | The Oncology Journal
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
Inherited Susceptibility to Cancer Clinic - Rush University Medical Center
Komen St. Louis Community Partner: SLU Cancer Center's Educating Women About Hereditary Risk for Developing Breast Cancer |...
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…
Genetic predisposition to diabetes ups risk of CVD
Let nurse give you a shot / It's something to do* | Chillmost
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 ...
PeachParts Mercedes-Benz Forum - 23AndMe?
One of the reasons I asked for the kit is because their results, in addition to ancestry, gave information relative to genetic disease predisposition. Id already asked for the kit for xmas when it was announced that the FDA had made them stop giving out that info pending its approval. They have promised that IF they get that approval theyll provide that portion of the data to anyone who tested after the stop date, sometime last November ...
Vaping could increase risk of pneumonia, study finds | News | Pharmaceutical Journal
TY - JOUR. T1 - microRNA多态与肺癌遗传易感性关联Meta分析. AU - Sun, Song Zan. AU - Huang, Hai Rong. AU - Long, Wen Fang. AU - Liu, Yun Ru. AU - Yang, Jian Jun. AU - Liu, Yu Mei. AU - Yan, Zhen. AU - Yu, De E.. AU - Zhou, Jing. AU - Xiao, Sha. PY - 2019/8/14. Y1 - 2019/8/14. N2 - OBJECTIVE: Reports show that microRNAs polymorphism is related to the genetic susceptibility to lung cancer,while the conclusions are inconsistent.In this study,meta analysis was performed on related literatures published from January 2007 to April 2017 to evaluate the association between polymorphism at miRNA-196a2 rs11614913 and miRNA-146a rs2910164 and genetic susceptibility to lung cancer.METHODS: The databases of PubMed,CNKI,cqVIP,CBM or wanfang were retrieved to search for publications about case-control study,which studied on the relationship between rs11614913 or rs2910164 polymorphisms of miRNA and genetic susceptibility to lung cancer.According to the inclusion criteria and exclusion ...
Comparisons | Comprehensive Meta-Analysis Software
Stress Activated Protein Kinases as Mediators of Disease - Michael Karin
News | Research at Yale
ICD-9 Code V84.02 -Genetic susceptibility to malignant neoplasm of ovary- Codify by AAPC
HKU Scholars Hub: Browsing DSpace
Browsing by Keywords "Genetic predisposition to disease"
Changes related to "D:Genetic Predisposition To Disease" - wiki-pain
Detailed Feature List | Comprehensive Meta-Analysis
We have also not recognized as well as we ought to the difference between what must be the distinct processes involved in the immature central nervous system developing a basic capacity (such as mobility or communication), and those involved in improving or repairing ones skills in those aspects of function once it has emerged.5 A powerful example of how the brain is wired to accommodate and develop inputs from the outside world is the recognition of the sensitive periods for vision to develop normally.6 It appears that development requires, in addition to neurological integration, genetic predisposition and opportunities to work at the emergence of the function. Rehabilitation involves working with people who have acquired a functional problem, in order to help them recover their established but impaired capacities. It almost certainly requires and uses very different brain mechanisms than those that are involved in the development of these capacities in the first place. These ...
Decellularization of porcine heart valve
Genetic predisposition for valvular disease is uncommon. Xenogeneic antigens are recognized as foreign by the human body and ... Valvular disease is caused primarily by valvular lesions stemming from infections, especially rheumatic fever (Streptococceus ... that can then be used for tissue engineering and valve replacement in humans inflicted with valvular disease. Decellularized ...
Equine recurrent uveitis
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. ...
Genetic factors are associated with a predisposition to SJS. The cause of SJS is unknown in one-quarter to one-half of cases. ... Patients with SJS and TEN frequently experience burning pain of their skin at the start of disease. Ulcers and other lesions ... SJS and TEN are considered a single disease with common causes and mechanisms. Although SJS can be caused by viral infections ... Viral diseases reported to cause SJS include: herpes simplex virus (debated)[clarification needed], AIDS, coxsackievirus, ...
... unique genetic pre-disposition, identifying optimal dosing; Improve drug discovery targeted to human disease; and Improve proof ... Over 28 genetic variants have been identified for CYP2C19, of which affects the metabolism of several classes of drugs, such as ... However, several genetic events can influence a same phenotypic trait, and establishing genotype-to-phenotype relationships can ... Rotimi CN, Jorde LB (2010). "Ancestry and disease in the age of genomic medicine". N Engl J Med. 363 (16): 1551-8. doi:10.1056/ ...
Recurrent laryngeal nerve
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. ...
Soft-coated Wheaten Terrier
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 ... "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 ... vitiligo and thyroid disease. Both bacterial as well as viral pathogens have been implicated in the etiology of LS. A disease ... In males, the disease may take the form of whitish patches on the foreskin and its narrowing (preputial stenosis), forming an " ... The disease can last for a considerably long time. Occasionally, "spontaneous cure" may ensue, particularly in young girls. ...
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).[ ... "Orphanet Journal of Rare Diseases. 9: 100. doi:10.1186/1750-1172-9-100. PMC 4105151. PMID 24980457.. ... In-frame deletions or duplications have been identified in a few cases. The disease is transmitted as an autosomal- ...
Genetic predisposition is also a major factor in determining whether someone will develop melasma. Women with a light brown ... Melasma Suprarenale (Latin - above the kidneys) is a symptom of Addison's disease, particularly when caused by pressure or ... Melasma is thought to be caused by sun exposure, genetic predisposition, hormone changes, and skin irritation. Although it ... James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders ...
"Smoking Significantly Increases Risk of Alzheimer's Disease Among Those Who Have No Genetic Predisposition". Retrieved 2009-12- ... Minocyline has been shown to have neuroprotective activity in the CNS for Huntington's disease, Parkinson's disease, ... models of inflammation-involving neurological diseases such as various degenerative diseases including Alzheimer's disease. A ... which is a highly recognized part of cerebral ischemia as well as many neurodegenerative diseases including Parkinson's disease ...
"Smoking Significantly Increases Risk of Alzheimer's Disease Among Those Who Have No Genetic Predisposition". Retrieved 2009-12- ... Nicotine has been shown to delay the onset of Parkinson's disease in studies involving monkeys and humans. A study has shown a ... Chewing nicotine gum may increase the risk of heart disease, although this is still debated. Nicotine is a vasoconstrictor; it ... There is evidence that nicotine has the potential to prevent and treat Alzheimer's disease. ...
... a genetic predisposition to viral heart disease". Nature Medicine. 8 (8): 872-7. doi:10.1038/nm737. PMID 12118246. Nishtala, K ... 1. The amount of virally infected cardiomyocytes varies in different stages of the disease. In a mouse model, at the acute ... 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. J. R. ... 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 ...
Krembil Research Institute
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, ...
Genetic predisposition is also a factor. Although the idea that exposure to certain infections may decrease the risk of allergy ... autoimmune diseases including Crohn's disease, multiple sclerosis, asthma, and ulcerative colitis. Autoimmune liver disease can ... Grammatikos Alexandros P (2008). "The genetic and environmental basis of atopic diseases". Annals of Medicine. 40 (7): 482-95. ... Heart disease and arteriosclerosis both have similar epidemiological profiles as autoimmune diseases and both involve ...
Research is currently underway to find if there is a genetic predisposition for sebaceous adenitis; the exact mode of ... The cause of the inflammatory disease is unknown. Different breeds of dogs may have different underlying causes of the disease ... This forms a major and critical part in the disease treatment and the shampoo treatment can need to be applied as often as 3 to ... Like other inflammatory diseases, most animals receive an initial course to stop the inflammation and treatment is tapered off ...
The cause of Melkersson-Rosenthal syndrome is unknown, but there may be a genetic predisposition. It has been noted to be ... 2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. synd/9 at Who Named It? ... Only genetic causation is established as it is associated with twins and family members. Diagnosis is mainly based on clinical ... However, biopsy has been useful in diagnosis as well as in differentiating between the different types of the disease. ...
Seminars in Liver Disease. 25 (4): 402-10. doi:10.1055/s-2005-923312. PMID 16315134. Distante S (2006). "Genetic predisposition ... Ryan, E; O'Keane, C; Crowe, J (December 1998). "Hemochromatosis in Ireland and HFE". Blood Cells, Molecules & Diseases. 24 (4 ... The iron storage disorder hereditary hemochromatosis (HHC) is an autosomal recessive genetic disorder that usually results from ... Thus, the Hfe−/− mouse model simulates important genetic and physiologic abnormalities of HFE hemochromatosis. Other knockout ...
Child nutrition in Australia
"Obesity, lack of physical exercise and a poor diet are the major lifestyle factors that encourage this disease." Genetic ... predispositions also play a role, however, not as significant as environmental causes. Diabetes among children, is on the rise ... An inadequate diet provides an opportunity for several diseases to manifest within humans. This is due to the fact that a diet ... A lack of calcium within the diet can ultimately lead to progressive bone diseases such as osteoporosis, which results in a ...
Primary biliary cholangitis
A genetic predisposition to disease has been thought to be important for some time. Evidence for this includes cases of PBC in ... in more advanced disease Enlarged spleen in more advanced disease Oesophageal varices in more advanced disease Hepatic ... The cause of the disease is attributed to an immunological basis for the disease, making it an autoimmune disorder. It results ... are found in early disease. Elevations in bilirubin occur in advanced disease. Antimitochondrial antibodies are the ...
Indian childhood cirrhosis
It primarily affects children of 1-3 years of age and has a genetic predisposition. It had a very high case fatality in the ... Nayak N.C.; Chitale A.R. (2013). "Indian childhood cirrhosis (ICC) & ICC-like diseases: The changing scenario of facts versus ... Indian childhood cirrhosis is a chronic liver disease of childhood characterised by cirrhosis of liver due to deposition of ... Archives of Disease in Childhood. 74 (1): 32-35. doi:10.1136/adc.74.1.32. PMC 1511595 . PMID 8660042. ...
Cordon-Cardo is himself a survivor of colon cancer to which he had a genetic predisposition. In an effort to overcome the ... Alicia Bouzan-Cordon died in 2009 from a rare lung disease. The couple had two children. ... The underpinnings for these pathways were based on over a decade of studies elucidating genetic perturbations seen in low and ... Cancer Trailblazer Follows the Genetic Fingerprints". New York Times. Retrieved 27 April 2014. Also reprinted in Chang, Laura ( ...
Health in India
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 ...
Temporomandibular joint dysfunction
TMD does not obviously run in families like a genetic disease. It has been suggested that a genetic predisposition for ... Rheumatoid arthritis, an autoimmune joint disease, can also affect the TMJs. Degenerative joint diseases may lead to defects in ... Degenerative joint disease, such as osteoarthritis or organic degeneration of the articular surfaces, recurrent fibrous or bony ... In medicine generally, arthrosis can be a nonspecific term for a joint, any disease of a joint (or specifically degenerative ...
White dot syndromes
Some suggest a genetic predisposition to the disease, while others postulate an abnormal immune response to a virus. Multiple ... common autoimmune and inflammatory diseases arise from combinatorial interactions of common non-disease specific loci, disease ... White spot syndromes of the retina: a hypothesis based on the common genetic hypothesis of autoimmune/inflammatory disease. ... Becker, K. G. (2001). The common genetic hypothesis of autoimmune/inflammatory disease. Curr Opin Allergy Clin Immunol, 1(5), ...
Quantitative trait locus
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 and that the patient will also be a genetic carrier ... Genetic predisposition. *Nested Association Mapping. *Oncogene. *Genetic susceptibility. References. *^ Miles, C; Wayne, ... Heritable disease and multifactorial inheritance. 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. 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 ...
Urinary tract infection
"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. This is believed to be related to genetics. 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. . ...
Nikotin - Wikipedija, prosta enciklopedija
"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 ...
Dual inheritance theory
... 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.. 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 ...
Kasutaja:Mariina/Lapseea aktiivsus- ja tähelepanuhäire - Vikipeedia
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. Both diseases share the same genetic risk ... Research has shown no significant predispositions based on ethnicity. ... "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. ... 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. 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 ...
Shift work sleep disorder
12] Genetic predisposition is an important predictor of which people are vulnerable to SWSD. ... 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 : ... Other studies have reported that night workers have an increased incidence of heart disease, digestive disorders and menstrual ...
Genetic factors. 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 ...
Generalized anxiety disorder
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. ... 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. In lieu of ...
... signalling that there may be a genetic predisposition in some cases. ... The cause of Ménière's disease is unclear but likely involves both genetic and environmental factors. A number of ... The cause of Ménière's disease is unclear but likely involves both genetic and environmental factors. 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. ... GeneReviews/NCBI/NIH/UW entry on UMOD-Related Kidney Disease ... Hyperuricemia of this type is a common complication of solid organ transplant. 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. These ... Individuals differ in their inherited tendency to develop cancer, and cancer is a genetic disease. 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. ...
Serotonin-norepinephrine-dopamine reuptake inhibitor
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 ...
Cannabis use disorder
... 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), ... a systematic analysis for the Global Burden of Disease Study 2016". The Lancet. Psychiatry. 5 (12): 987-1012. doi:10.1016/S2215 ...
Aging-associated diseases. *Genetic diseases and disorders. *Senescence. Hidden categories: *All articles with unsourced ... Mohaghegh, P; Hickson, ID (2001). "DNA helicase deficiencies associated with cancer predisposition and premature ageing ... Familial Alzheimer's disease and familial Parkinson's disease are two well-known accelerated-aging diseases that are more ... "NORD Rare Disease Report Abstract. Retrieved 16 March 2013.. *^ a b "Wiedemann-Rautenstrauch syndrome". Orphanet. Retrieved 16 ...
... or genetic predisposition. These ulcers occur periodically and heal completely between attacks. In the majority of cases, the ... Behçet's disease is a triad of mouth ulcers, genital ulcers and anterior uveitis. The main feature of Behçet's disease is ... but rarely Behçet's disease, erythema multiforme, ulceration associated with gastrointestinal disease, and recurrent intra-oral ... but also inflammatory bowel disease such as Crohn's disease or ulcerative colitis. The link between gastrointestinal disorders ...
મદ્યપાન - વિકિપીડિયા
Apr 2000). "[Genetic predisposition for alcoholism]". Ther Umsch 57 (4): 179-84. PMID 10804873 . ... USA: Centers for Disease Control and Prevention.. Cite uses deprecated parameter ,coauthors=. (help); Check date values in: May ... Dec 2006). "Genetic and environmental influences on the development of alcoholism: resilience vs. risk.". Ann N Y Acad Sci 1094 ... Kay AB (2000). "Overview of 'allergy and allergic diseases: with a view to the future'". Br. Med. Bull. 56 (4): 843-64. doi: ...
Browsing by Keywords "Genetic predisposition to disease"
Genetic and Hormone Testing for Disease Predisposition - DNA Forensics
We provide Genetic and Hormone Testing for Disease Predisposition which also known as DNA genetic screening test, donor ... the field of genetic testing and provides highest quality standards in Genetic and Hormone Testing for Disease Predisposition. ... Genetic & Hormone predisposition test. DNA Forensics Laboratory Pvt. Ltd. is the fastest growing company in ... With us, getting your Genetic and Hormone predisposition test done is simple and seamless. You just need to follow the steps ...
Changes related to "D:Genetic Predisposition To Disease" - wiki-pain
Genetic predisposition to diabetes ups risk of CVD
... having a genetic predisposition towards the disease is associated with an increased risk of cardiovascular disease (CVD), ... having a genetic predisposition towards the disease is associated with an increased risk of cardiovascular disease, according ... having a genetic predisposition towards the disease is associated with an increased risk of cardiovascular disease (CVD), ... Genetic predisposition to diabetes ups risk of CVD. October 23, 2012 For patients with type 2 diabetes, ...
Researchers Identify Genetic Predisposition to Lumbar Disc Disease
... 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, ...
What does it mean to have a genetic predisposition to a disease?: MedlinePlus Genetics
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 ... What does it mean to have a genetic predisposition to a disease? ... What does it mean to have a genetic predisposition to a disease ...
WikiGenes - Genetic Predisposition to Disease
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 ...
Genetic predisposition of the interleukin-6 response to inflammation: implications for a variety of major diseases? - PubMed -...
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 | European...
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 ...
Genetic predisposition to smoking in relation to 14 cardiovascular diseases. | OnMedica
... 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 ... Genetic Predisposition to Type 2 Diabetes and Risk of Subclinical Atherosclerosis and Cardiovascular Diseases Among 160,000 ...
topic:"Genetic Predisposition to Disease - genetics" found 490 records • Arctic Health
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 ...
Genetic predisposition health test for disease in Ireland | EasyDNA Ireland
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 ...
A new light shed on genetic regulation's role in the predisposition to common diseases
... 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 ...
Maximize Your HSA - Know Your Genetic Predisposition to Various Diseases
... 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 ...
KAKEN - Research Projects | Genetic predisposition of cerebrovascular diseases and their prophylactic strategy (KAKENHI-PROJECT...
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 to Chronic Obstructive Pulmonary Disease and/or Lung Cancer: Important Considerations When Evaluating ...
Genetic predisposition to disease (MPKB)
... 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]. ...
Leicester Research Archive: Genetic Predisposition to Increased Blood Cholesterol and Triglyceride Lipid Levels and Risk of...
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 Crohn's disease of the adult population of Moscow: P-226.
Genetic predisposition to increased blood cholesterol and triglyceride lipid levels and risk of Alzheimer disease: a Mendelian...
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 ...
Genetic susceptibility to chronic kidney disease - some more pieces for the heritability puzzle: Genetic predisposition to...
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 | Profiles RNS
"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". ...
Genetic predisposition in nonalcoholic fatty liver 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 - definition and disease | Beltina.org
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. (Concept) - Dover Public Library
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= ...
Celiac Disease Genetic Predisposition DNA Test in Kenya
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 ...
Glossary of Terms | Parkinson's Disease
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 ...
Clinical and Genetic Advances in Paget's Disease of Bone: a Review | SpringerLink
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  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 ...
The IMPACT Study - Identification of Men With a Genetic Predisposition to ProstAte Cancer - Full Text View - ClinicalTrials.gov
Disease Susceptibility. Genetic Predisposition to Disease. Genital Neoplasms, Male. Urogenital Neoplasms. Neoplasms by Site. ... The IMPACT Study - Identification of Men With a Genetic Predisposition to ProstAte Cancer. The safety and scientific validity ... Tischkowitz M, Eeles R; IMPACT study: Identification of Men with genetic predisposition to Prostate Cancer and its Clinical ... The IMPACT Study - Identification of Men With a Genetic Predisposition to ProstAte Cancer: Targeted Screening in BRCA1/2 ...
Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous Polyposis -...
Digestive System Diseases. Gastrointestinal Diseases. Colonic Diseases. Intestinal Diseases. Rectal Diseases. Adenomatous ... Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous Polyposis. ... Genetic Diseases, Inborn. Celecoxib. Anti-Inflammatory Agents, Non-Steroidal. Analgesics, Non-Narcotic. Analgesics. Sensory ... Genetic and Rare Diseases Information Center resources: Familial Adenomatous Polyposis MYH-associated Polyposis ...
Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer - Full Text...
Genetic and Rare Diseases Information Center resources: Renal Cell Carcinoma Intravenous Leiomyomatosis ... Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer. The safety and ... participants will discuss the results with a doctor and possibly a genetic nurse or genetic counselor. The genetic findings ... Kidney Diseases. Urologic Diseases. Neoplasms, Muscle Tissue. Neoplasms, Connective and Soft Tissue. Neoplasms, Connective ...
Genetic Health Predisposition DNA Testing For Diseases | International Biosciences UK
... risk of diseases, cancers, Coeliac, Diabetes & Obesity. Order today 01273 227544. ... DNA Health Test to predict Genetic Predisposition for genetic disorders, ... Read more about Genetic Predisposition to Gastric Cancer.. Graves Disease. Graves disease is an autoimmune disease. It most ... Genetic Predisposition Test. International Biosciences provide genetic testing to determine your genetic predisposition. for ...
SusceptibilityDisordersVariantsFactorsPatientsClinicalChronicOvarian cancerInflammationGenotypeCancerMechanismsDiagnosisSymptomsAutoimmune diseaseCrohn'sDiagnosticSYNDROMECertain diseasesMutationsOnsetHumansCancersChromosomeProteinsSystemicAlzheimer's DiseaseCholesterolCeliacFamilialResearchersParkinson's DiseaseImmune systemAtherosclerosisKidney DiseasesSporadicGeneSusceptibleAffectsDiabetesGenetics Home ReferenceInfectious DiseasesCenters for DiseasSingle-nucleotide poDoctorsTraits
- As per the best nutritionist in Mumbai this is also termed as genetic susceptibility. (lifeofmyfamilyandme.com)
- The EstroGenomic ® Profile identifies susceptibility to diseases and conditions such as breast cancer, osteoporosis, and heart disease. (integrativemedicinedallas.com)
- The Rush Inherited Susceptibility to Cancer Clinic provides counseling and testing (usually blood tests) for genetic mutations that can increase risk for cancer, such as BRCA1 and BRCA2 mutations. (rush.edu)
- 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)
- A diet rich in Vitamin E will boost endo-antioxidants like glutathione which fights against disorders like psoriasis, heart disease and CKD. (lifeofmyfamilyandme.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)
- In conclusion, we found that the genetic predisposition to T2D was significantly associated with an increased risk of CVD in patients with T2D," the authors write. (medicalxpress.com)
- Genetic testing for cancer prediposition is available for certain types of breast cancer , colon cancer , leukemia , sarcoma , gynecologic cancers (e.g., ovarian cancer and endometrial cancer) and more. (rush.edu)
- Women with a personal history of breast cancer under the age of 50 and/or family history of breast or ovarian cancer may be candidates for genetic testing for breast cancer predisposition. (rush.edu)
- Any woman with a personal history of ovarian cancer is a candidate for genetic testing for cancer predisposition. (rush.edu)
- 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)
- This study will investigate what causes hereditary leiomyomatosis renal (kidney) cell cancer, or HLRCC, and how the disease is related to the development of kidney tumors. (clinicaltrials.gov)
- 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)
- Although cancer predisposition syndromes are rare and malignancies arising in this context account for only 1-10% of childhood tumors, studies performed in affected patients and their families have been of unique value for the understanding of cancer development. (nih.gov)
- Cancer has long been recognized as a genetic disease of somatic cells. (nih.gov)
- Despite improved understanding of the molecular basis of predisposition to cancer and better diagnostic tools, the care of these patients and their families remains a major challenge for the clinician. (nih.gov)
- This review focuses on examples of each class of inherited cancer predisposition syndromes with special implications for patients in the pediatric age group, including retinoblastoma predisposition, Li-Fraumeni syndrome, multiple endocrine neoplasia disorders and Fanconi anemia. (nih.gov)
- The genetic basis of cancer predisposition is discussed as well as the major concepts and controversies in the clinical management of these patients and their families. (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)
- 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)
- This chemical changes into benzene, which can cause cancer, in the human body and causes genetic damage in animals. (sixwise.com)
- Studies have consistently shown that sleep deprivation or sleeping less than five hours a night can lead to major health problems, including cancer, diabetes, heart disease, high blood pressure, obesity and even an increased risk for mortality. (aplaceformom.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)
- With models, researchers can study the mechanisms of a disease and test therapies. (michaeljfox.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)
- The elucidation of genetic mechanisms regulating pre-mRNA processing, combined with the development of drugs targeted at consensus RNA sequences and/or corresponding proteins, can lead to novel diagnostic and therapeutic approaches. (nih.gov)
- Understanding the basic mechanisms of genetic predisposition to myeloid malignancies may inform surveillance strategies and lead to novel therapies. (aamds.org)
- 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)
- These findings have led to a better understanding of the underlying disease mechanisms. (plos.org)
- 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)
- 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)
- The diagnosis of a genetic predisposition to MDS informs clinical care and treatment selection. (aamds.org)
- 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)
- 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)
- Clinical practice guideline for the diagnosis and management of group a streptococcal pharyngitis: 2012 update by the infectious diseases society of america. (medscape.com)
- 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)
- Incidence of the disease has increased fivefold over the last 40 years (and 23 percent in the last decade), leaving about 450,000 young people with a diagnosis. (greatist.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)
- 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)
- Symptoms and treatment for kidney disease vary depending the specifics of the case, but oftentimes, a diet change can help. (petmd.com)
- Involuntary urination and constipation are two symptoms that can appear in many patients with Parkinson's disease. (botanical-online.com)
- The relapsing and remitting pattern of the disease and its odd assortment of symptoms mean that many suffer for years before being diagnosed. (greatist.com)
- Crohn's is one of several autoimmune inflammatory bowel diseases (IBD) with varying symptoms, including bloating, diarrhea, and gut pain, which may flare up or go into remission for poorly understood reasons. (greatist.com)
- Nearly three times as many women than man have the disease, and women tend to exhibit symptoms at a younger age (commonly between ages 30 and 60) than men. (greatist.com)
- 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)
- Here's the info you need to understand what these diseases are, how they manifest, and what you can do to prevent (or, if it comes down to it, diagnose) an autoimmune disease in your life. (greatist.com)
- This autoimmune disease strikes mostly in childhood, leaving patients unable to metabolize glucose and requiring a lifetime of insulin injections and blood testing to avoid fatal complications. (greatist.com)
- A general autoimmune disease in which antibodies attack a number of different tissues. (encyclopedia.com)
- Vitamin deficiency (A, B or C) Viral infection Bacterial infection Leptospira Streptococcus Brucella Parasitic infection Strongyle Onchocerca cervicalis Autoimmune disease The disease has been suggested to be primarily autoimmune in nature, being a delayed hypersensitivity reaction to any of the above agents. (wikipedia.org)
- 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 testing now offers a powerful diagnostic approach but also poses new challenges and caveats. (aamds.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)
- 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)
- 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)
- Association study of clusterin polymorphism rs11136000 with late onset Alzheimer's disease in Chinese Han population. (labome.ru)
- There are many other factors that contribute to the onset of heart disease, diabetes, stroke, etc. (yourdentistryguide.com)
- 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)
- 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)
- It is believed that the lack of intake of antioxidant nutrients would be responsible for the appearance of numerous free radicals that contribute to the onset of Parkinson's disease. (botanical-online.com)
- The different frequency of hepatocellular carcinoma (HCC) in humans at risk suggests a polygenic predisposition. (uniss.it)
- This decellularized valve tissue provides a scaffold with the remaining extracellular matrix (ECM) that can then be used for tissue engineering and valve replacement in humans inflicted with valvular disease. (wikipedia.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)
- A chemical compound or substance that inhibits oxidation - damage to cells' membranes, proteins or genetic material by free radicals (the same chemical reaction that causes iron to rust). (michaeljfox.org)
- 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)
- Unlike Celiac disease, this condition doesn't respond to the elimination of gluten or similar proteins. (greatist.com)
- 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)
- 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)
- 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)
- Alzheimer's disease is the most common memory disorder. (news-medical.net)
- 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)
- 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)
- 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)
- 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)
- A class of drugs used to treat mild to moderate dementia in Parkinson's disease. (michaeljfox.org)
- Aggregation of the protein alpha-synuclein is found in Lewy bodies, a pathological hallmark of Parkinson's disease. (michaeljfox.org)
- A genetic mutation in this protein is the basis for a rare inherited form of Parkinson's disease. (michaeljfox.org)
- A class of drugs often effective in reducing the tremor of Parkinson's disease. (michaeljfox.org)
- Some studies have linked oxidative damage to Parkinson's disease. (michaeljfox.org)
- A medicine used to treat Parkinson's disease. (michaeljfox.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)
- No validated biomarker of Parkinson's disease currently exists. (michaeljfox.org)
- PARKINSON'S DISEASE is a progressive degenerative disease characterized mainly by the lack or difficulty of movement, because of muscle rigidity, the presence of tremors and a poor coordination. (botanical-online.com)
- Parkinson's disease affects both men and women, but is more common in the former. (botanical-online.com)
- It was named Parkinson's disease because it was discovered in the eighteenth century by an English physician named James Parkinson. (botanical-online.com)
- Answer: All these celebrities are living with autoimmune diseases , which occur when the body's immune system mistakenly attacks and destroys its own healthy body tissue. (greatist.com)
- Only over the past 40 years have immunologists developed the theory that these diseases have something in common: attacks by the immune system against cells in its own body. (greatist.com)
- 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)
- Periodontal disease and atherosclerosis frequently coexist in the same person. (yourdentistryguide.com)
- 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)
- 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)
- Certain cultural and biological traits made Native Americans more susceptible to these diseases. (wikipedia.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)
- In most cases, Meniere's disease affects only one ear. (mayoclinic.org)
- Graves disease causes the thyroid gland to overproduce thyroid hormone, which affects the body's metabolism. (greatist.com)
- Often occurring after an infection or an immunization (specifically Swine flu), the disease affects the myelin sheath , which coats nerve cells. (encyclopedia.com)
- 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)
- 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)
Genetics Home Reference1
Centers for Diseas2
- 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)
- 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)
- If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. (cdc.gov)
- The approval granted by the USFDA to this kit is a landmark decision as allows people to learn about their predispositions to diseases in a more private setting, without any doctors or medical staff present. (stayinpink.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)
- The degree of radiation sensitivity depends upon the combination of various genetic traits and how they interact with each other. (bfs.de)