Genetic Variation: Genotypic differences observed among individuals in a population.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.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.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.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.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.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.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.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.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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.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.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.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.Pharmacogenetics: A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Homozygote: An individual in which both alleles at a given locus are identical.China: A country spanning from central Asia to the Pacific Ocean.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.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.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).Gene-Environment Interaction: The combined effects of genotypes and environmental factors together on phenotypic characteristics.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.Alternative Splicing: A process whereby multiple RNA transcripts are generated from a single gene. Alternative splicing involves the splicing together of other possible sets of EXONS during the processing of some, but not all, transcripts of the gene. Thus a particular exon may be connected to any one of several alternative exons to form a mature RNA. The alternative forms of mature MESSENGER RNA produce PROTEIN ISOFORMS in which one part of the isoforms is common while the other parts are different.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.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.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.Mendelian Randomization Analysis: The use of the GENETIC VARIATION of known functions or phenotypes to correlate the causal effects of those functions or phenotypes with a disease outcome.Risk: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.Epistasis, Genetic: A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.Transcription Factor 7-Like 2 Protein: A transcription factor that takes part in WNT signaling pathway. The activity of the protein is regulated via its interaction with BETA CATENIN. Transcription factor 7-like 2 protein plays an important role in the embryogenesis of the PANCREAS and ISLET CELLS.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.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.HapMap Project: A coordinated international effort to identify and catalog patterns of linked variations (HAPLOTYPES) found in the human genome across the entire human population.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, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.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.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.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.Multifactorial Inheritance: A phenotypic outcome (physical characteristic or disease predisposition) that is determined by more than one gene. Polygenic refers to those determined by many genes, while oligogenic refers to those determined by a few genes.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Protein Isoforms: Different forms of a protein that may be produced from different GENES, or from the same gene by ALTERNATIVE SPLICING.African Americans: Persons living in the United States having origins in any of the black groups of Africa.Aryl Hydrocarbon Hydroxylases: A large group of cytochrome P-450 (heme-thiolate) monooxygenases that complex with NAD(P)H-FLAVIN OXIDOREDUCTASE in numerous mixed-function oxidations of aromatic compounds. They catalyze hydroxylation of a broad spectrum of substrates and are important in the metabolism of steroids, drugs, and toxins such as PHENOBARBITAL, carcinogens, and insecticides.Genetics, Population: The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.Meta-Analysis as Topic: A quantitative method of combining the results of independent studies (usually drawn from the published literature) and synthesizing summaries and conclusions which may be used to evaluate therapeutic effectiveness, plan new studies, etc., with application chiefly in the areas of research and medicine.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.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Breast Neoplasms: Tumors or cancer of the human BREAST.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.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.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.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Population Groups: Individuals classified according to their sex, racial origin, religion, common place of living, financial or social status, or some other cultural or behavioral attribute. (UMLS, 2003)Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Genetic Pleiotropy: A phenomenon in which multiple and diverse phenotypic outcomes are influenced by a single gene (or single gene product.)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.High-Throughput Nucleotide Sequencing: Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.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).DNA Copy Number Variations: Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.Vitamin K Epoxide Reductases: OXIDOREDUCTASES which mediate vitamin K metabolism by converting inactive vitamin K 2,3-epoxide to active vitamin K.Disease: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.Endophenotypes: Measurable biological (physiological, biochemical, and anatomical features), behavioral (psychometric pattern) or cognitive markers that are found more often in individuals with a disease than in the general population. Because many endophenotypes are present before the disease onset and in individuals with heritable risk for disease such as unaffected family members, they can be used to help diagnose and search for causative genes.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.Ethnic Groups: A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.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)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)Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Models, Statistical: Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.Methylenetetrahydrofolate Reductase (NADPH2): A flavoprotein amine oxidoreductase that catalyzes the reversible conversion of 5-methyltetrahydrofolate to 5,10-methylenetetrahydrofolate. This enzyme was formerly classified as EC 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.Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.Receptor, Melatonin, MT1: A melatonin receptor subtype that is primarily found in the HYPOTHALAMUS and in the KIDNEY.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Penetrance: 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)Linear Models: Statistical models in which the value of a parameter for a given value of a factor is assumed to be equal to a + bx, where a and b are constants. The models predict a linear regression.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Glucuronosyltransferase: A family of enzymes accepting a wide range of substrates, including phenols, alcohols, amines, and fatty acids. They function as drug-metabolizing enzymes that catalyze the conjugation of UDPglucuronic acid to a variety of endogenous and exogenous compounds. EC 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).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.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Models, Molecular: Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Prostatic Neoplasms: Tumors or cancer of the PROSTATE.Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.Smoking: Inhaling and exhaling the smoke of burning TOBACCO.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.Catechol O-Methyltransferase: Enzyme that catalyzes the movement of a methyl group from S-adenosylmethionone to a catechol or a catecholamine.FinlandPrealbumin: A tetrameric protein, molecular weight between 50,000 and 70,000, consisting of 4 equal chains, and migrating on electrophoresis in 3 fractions more mobile than serum albumin. Its concentration ranges from 7 to 33 per cent in the serum, but levels decrease in liver disease.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Software: Sequential operating programs and data which instruct the functioning of a digital computer.Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Cyclin-Dependent Kinase Inhibitor p15: An INK4 cyclin-dependent kinase inhibitor containing four ANKYRIN-LIKE REPEATS. INK4B is often inactivated by deletions, mutations, or hypermethylation in HEMATOLOGIC NEOPLASMS.Macular Degeneration: Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.Angina Pectoris, Variant: A clinical syndrome characterized by the development of CHEST PAIN at rest with concomitant transient ST segment elevation in the ELECTROCARDIOGRAM, but with preserved exercise capacity.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.GermanyCloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.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.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.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.Molecular Epidemiology: The application of molecular biology to the answering of epidemiological questions. The examination of patterns of changes in DNA to implicate particular carcinogens and the use of molecular markers to predict which individuals are at highest risk for a disease are common examples.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.Computer Simulation: Computer-based representation of physical systems and phenomena such as chemical processes.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Multifactor Dimensionality Reduction: A statistical tool for detecting and modeling gene-gene interactions. It is a non-parametric and model-free approach.ItalyOrganic Cation Transport Proteins: A family of proteins involved in the transport of organic cations. They play an important role in the elimination of a variety of endogenous substances, xenobiotics, and their metabolites from the body.Protein Binding: The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Binding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.Arylamine N-Acetyltransferase: An enzyme that catalyzes the transfer of acetyl groups from ACETYL-COA to arylamines. It can also catalyze acetyl transfer between arylamines without COENZYME A and has a wide specificity for aromatic amines, including SEROTONIN. However, arylamine N-acetyltransferase should not be confused with the enzyme ARYLALKYLAMINE N-ACETYLTRANSFERASE which is also referred to as SEROTONIN ACETYLTRANSFERASE.Individualized Medicine: Therapeutic approach tailoring therapy for genetically defined subgroups of patients.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Protein Structure, Tertiary: The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.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.JapanEuropeProtein Tyrosine Phosphatase, Non-Receptor Type 22: A subtype of non-receptor protein tyrosine phosphatases that is characterized by the presence of an N-terminal catalytic domain and a C-terminal PROLINE-rich domain. The phosphatase subtype is predominantly expressed in LYMPHOCYTES and plays a key role in the inhibition of downstream T-LYMPHOCYTE activation. Polymorphisms in the gene that encodes this phosphatase subtype are associated with a variety of AUTOIMMUNE DISEASES.Mexican Americans: Persons living in the United States of Mexican descent.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Recombinant Proteins: Proteins prepared by recombinant DNA technology.INDEL Mutation: A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.OrosomucoidOligonucleotide 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.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.Human Genome Project: A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME.United StatesKinetics: The rate dynamics in chemical or physical systems.Nerve Tissue ProteinsVariant Surface Glycoproteins, Trypanosoma: Glycoproteins attached to the surface coat of the trypanosome. Many of these glycoproteins show amino acid sequence diversity expressed as antigenic variations. This continuous development of antigenically distinct variants in the course of infection ensures that some trypanosomes always survive the development of immune response to propagate the infection.Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)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.Glutathione Transferase: A transferase that catalyzes the addition of aliphatic, aromatic, or heterocyclic FREE RADICALS as well as EPOXIDES and arene oxides to GLUTATHIONE. Addition takes place at the SULFUR. It also catalyzes the reduction of polyol nitrate by glutathione to polyol and nitrite.Neoplasm Proteins: Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.Mutagenesis, Site-Directed: Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.3' Untranslated Regions: The sequence at the 3' end of messenger RNA that does not code for product. This region contains transcription and translation regulating sequences.alpha 1-Antitrypsin: Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES.HIV-1: The type species of LENTIVIRUS and the etiologic agent of AIDS. It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.Arylsulfotransferase: A sulfotransferase that catalyzes the sulfation of a phenol in the presence of 3'-phosphoadenylylsulfate as sulfate donor to yield an aryl sulfate and adenosine 3',5'-bisphosphate. A number of aromatic compounds can act as acceptors; however, organic hydroxylamines are not substrates. Sulfate conjugation by this enzyme is a major pathway for the biotransformation of phenolic and catechol drugs as well as neurotransmitters. EC Neoplasms: Tumors or cancer of the LUNG.Coronary Artery Disease: Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.Nod2 Signaling Adaptor Protein: A NOD signaling adaptor protein that contains two C-terminal leucine-rich domains which recognize bacterial PEPTIDOGLYCAN. It signals via an N-terminal capase recruitment domain that interacts with other CARD SIGNALING ADAPTOR PROTEINS such as RIP SERINE-THEONINE KINASES. The protein plays a role in the host defense response by signaling the activation of CASPASES and the MAP KINASE SIGNALING SYSTEM. Mutations of the gene encoding the nucleotide oligomerization domain 2 protein have been associated with increased susceptibility to CROHN DISEASE.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Receptor, Melanocortin, Type 4: A melanocortin receptor subtype found primarily in BRAIN. It shows specificity for ALPHA-MSH; BETA-MSH and ADRENOCORTICOTROPIC HORMONE.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.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.Neanderthals: Common name for an extinct species of the Homo genus. Fossils have been found in Europe and Asia. Genetic evidence suggests that limited interbreeding with modern HUMANS (Homo sapiens) took place.Electrophoresis, Starch Gel: Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.Molecular Sequence Annotation: The addition of descriptive information about the function or structure of a molecular sequence to its MOLECULAR SEQUENCE DATA record.Schizophrenia: A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.Hispanic Americans: Persons living in the United States of Mexican (MEXICAN AMERICANS), Puerto Rican, Cuban, Central or South American, or other Spanish culture or origin. The concept does not include Brazilian Americans or Portuguese Americans.Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.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.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.TCF Transcription Factors: A family of DNA-binding proteins that are primarily expressed in T-LYMPHOCYTES. They interact with BETA CATENIN and serve as transcriptional activators and repressors in a variety of developmental processes.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.Serotonin Plasma Membrane Transport Proteins: Sodium chloride-dependent neurotransmitter symporters located primarily on the PLASMA MEMBRANE of serotonergic neurons. They are different than SEROTONIN RECEPTORS, which signal cellular responses to SEROTONIN. They remove SEROTONIN from the EXTRACELLULAR SPACE by high affinity reuptake into PRESYNAPTIC TERMINALS. Regulates signal amplitude and duration at serotonergic synapses and is the site of action of the SEROTONIN UPTAKE INHIBITORS.Isoelectric Focusing: Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point.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.Lipase: An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. It is produced by glands on the tongue and by the pancreas and initiates the digestion of dietary fats. (From Dorland, 27th ed) EC Proteins: An endogenous family of proteins belonging to the serpin superfamily that neutralizes the action of thrombin. Six naturally occurring antithrombins have been identified and are designated by Roman numerals I to VI. Of these, Antithrombin I (see FIBRIN) and ANTITHROMBIN III appear to be of major importance.Anaplasma phagocytophilum: A species of gram-negative bacteria in the genus ANAPLASMA, family ANAPLASMATACEAE, formerly called Ehrlichia phagocytophila or Ehrlichia equi. This organism is tick-borne (IXODES) and causes disease in horses and sheep. In humans, it causes human granulocytic EHRLICHIOSIS.Likelihood Functions: Functions constructed from a statistical model and a set of observed data which give the probability of that data for various values of the unknown model parameters. Those parameter values that maximize the probability are the maximum likelihood estimates of the parameters.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Adaptor Proteins, Signal Transducing: A broad category of carrier proteins that play a role in SIGNAL TRANSDUCTION. They generally contain several modular domains, each of which having its own binding activity, and act by forming complexes with other intracellular-signaling molecules. Signal-transducing adaptor proteins lack enzyme activity, however their activity can be modulated by other signal-transducing enzymesHypertension: 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.Transfection: The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.Mutant Proteins: Proteins produced from GENES that have acquired MUTATIONS.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.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.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Spain: Parliamentary democracy located between France on the northeast and Portugual on the west and bordered by the Atlantic Ocean and the Mediterranean Sea.Siblings: Persons or animals having at least one parent in common. (American College Dictionary, 3d ed)ATP-Binding Cassette Transporters: A family of MEMBRANE TRANSPORT PROTEINS that require ATP hydrolysis for the transport of substrates across membranes. The protein family derives its name from the ATP-binding domain found on the protein.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.Czech Republic: Created 1 January 1993 as a result of the division of Czechoslovakia into the Czech Republic and Slovakia.Cytochrome P-450 CYP2D6: A cytochrome P450 enzyme that catalyzes the hydroxylation of many drugs and environmental chemicals, such as DEBRISOQUINE; ADRENERGIC RECEPTOR ANTAGONISTS; and TRICYCLIC ANTIDEPRESSANTS. This enzyme is deficient in up to 10 percent of the Caucasian population.Serum Albumin: A major protein in the BLOOD. It is important in maintaining the colloidal osmotic pressure and transporting large organic molecules.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.
"Gene variants influence insulin production". Futurity. Retrieved 8 December 2014. "Genetic Variations Cause Diabetes". Medical ... The Mohlke lab is identifying genetic variants and genes that influence common human traits with complex inheritance patterns, ... an abundance of recently identified common genetic variants". Human Molecular Genetics. 17: R102-R108. doi:10.1093/hmg/ddn275. ... Her research goals include identifying genetic loci responsible for genetic diseases; identifying important locations within ...
Watanabe, Kimitsuna; Suzuki, Tsutomu (2001). "Genetic Code and its Variants". doi:10.1038/npg.els.0000810. Blattner, F. R.; ... Central dogma of molecular biology Codon Messenger RNA Stop codon Transfer RNA Translation The Genetic Codes. Compiled by ... "Dual functions of codons in the genetic code". Critical Reviews in Biochemistry and Molecular Biology. 45 (4): 257-65. doi: ...
describes the population-level effect of alleles within a genetic variant; β. {\displaystyle \beta }. or O. R. {\displaystyle ... Some behavioural genetic designs are useful not to understand genetic influences on behaviour, but to control for genetic ... "Genetic psychology" redirects here. For Franz Brentano's concept of genetic psychology, see Genetic psychology (Brentano). ... Measured genetic variants[edit]. The Human Genome Project has allowed scientists to directly genotype the sequence of human DNA ...
Some selfish genetic elements manipulate the genetic transmission process to their own advantage, and so end up being ... First, sex and outcrossing put selfish genetic elements into new genetic lineages. In contrast, in a highly selfing or asexual ... Selfish genetic elements (historically also referred to as selfish genes, ultra-selfish genes, selfish DNA, parasitic DNA and ... Selfish genetic elements have been shown to play a role in speciation.[40][41][97] This could happen because the presence of ...
Recombination and genetic linkage[edit]. Main articles: Chromosomal crossover and Genetic linkage ... All the cells in a multicellular organism derive from a single cell, differentiating into variant cell types in response to ... He described several rules of genetic inheritance in his work The genetic law of the Nature (Die genetische Gesätze der Natur, ... genetic drift, genetic hitchhiking,[81] artificial selection and migration.[82] ...
... s are employed in genealogical DNA testing for genetic genealogy to determine genetic distance between ... Genetic markers can be used to study the relationship between an inherited disease and its genetic cause (for example, a ... A genetic marker is a gene or DNA sequence with a known location on a chromosome that can be used to identify individuals or ... N Manikanda Boopathi (2012-12-12). Genetic Mapping and Marker Assisted Selection: Basics, Practice and Benefits. Springer ...
Genetic code variants[edit]. The genetic code is, for the most part, universal, with few exceptions: mitochondrial genetics ... Mitochondrial genetic mutations that occur in the nuclear DNA can occur in any of the chromosomes (depending on the species). ... Genetic genealogy for lists of databases which help users find others with their Y-DNA and mtDNA. ... Evidence suggests that mitochondria can also undergo fusion and exchange (in a form of crossover) genetic material among each ...
"Genetic Variant Found for Women's Schizophrenia". Retrieved 2008-09-09. "Gene variant linked to female ... A 2008 genome-wide association study pointed to that a variant of the SNP could elevate the risk for schizophrenia among women ... "Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women ...
Love-Gregory L, Permutt MA (Jul 2007). "HNF4A genetic variants: role in diabetes". Current Opinion in Clinical Nutrition and ... Genetic mutations in the HNF4A gene can influence the activity of HNF4α's downstream proteins such as CYP2D6, in vitro and in ... Jiang F, Yeo CW, Lee SS, Oh MK, Ghim JL, Shon JH, Kim HS, Kim EY, Kim DH, Shin JG (2013). "Effect of HNF4α genetic polymorphism ... Lee SS, Cha EY, Jung HJ, Shon JH, Kim EY, Yeo CW, Shin JG (2008). "Genetic polymorphism of hepatocyte nuclear factor-4alpha ...
A study in genetic variants that regulate lipid metabolism and determine the susceptibility to dyslipidemia in Japanese ... "Association of genetic variants with dyslipidemia". Molecular Medicine Reports. 12 (4): 5429-36. doi:10.3892/mmr.2015.4081. ... A multi-locus genetic risk score study based on a combination of 27 loci, including the UBE2Z gene, identified individuals at ... "Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary ...
Identification and expression of genetic variants". FEBS Letters. 330 (1): 13-8. doi:10.1016/0014-5793(93)80909-e. PMID 8370452 ...
The gene expresses three transcript variants. The level of expression of this gene has been correlated with enlarged hearts and ... ". "Big hearts 'have genetic problem'". Health. BBC News. 2008-06-06. Retrieved 2008-06-07. Petretto E, Sarwar R, Grieve I, Lu ...
2003). "A variant example of familial Floating-Harbor syndrome?". Genetic counselling. 4 (1): 31-37. Fryns JP et al (1996) The ... Molecular genetic testing is also used now to test for genetic mutations. By performing a sequence analysis test of select ... For those concerned, genetic counseling can be sought for issues related to testing of at-risk relatives. The first identified ... Although its cause is unknown, it is thought to result from genetic mutation, and diagnosis is established by the presence of a ...
These rare genetic variants are autosomal dominant. In addition to its role in Alzheimer's disease, presenilin-1 also found to ... Nielsen AL, Holm IE, Johansen M, Bonven B, Jørgensen P, Jørgensen AL (August 2002). "A new splice variant of glial fibrillary ... Multiple alternatively spliced transcript variants have been identified for this gene, the full-length natures of only some ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ...
Kunnas T, Nikkari ST (August 2015). "Association of Zinc Finger, C3HC-Type Containing 1 (ZC3HC1) rs11556924 Genetic Variant ... "Association of genetic variants with atrial fibrillation". Biomedical Reports. 4 (2): 178-182. doi:10.3892/br.2015.551. PMC ... Additionally, a multi-locus genetic risk score study based on a combination of 27 loci, including the ZC3HC1 gene, identified ... with no other variants in strong linkage disequilibrium. The rs11556924 SNP in the ZC3HC1 gene results in an arginine-histidine ...
Lin YH, Wang YY, Chen HI, Kuo YC, Chiou YW, Lin HH, Wu CM, Hsu CC, Chiang HS, Kuo PL (2012). "SEPTIN12 genetic variants confer ... Multiple transcript variants encoding different isoforms have been found for this gene. GRCh38: Ensembl release 89: ... "Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only ...
Genetic variants and clinical management". The Journal of Pediatrics. 125 (5): 738-44. doi:10.1016/S0022-3476(06)80172-1. PMID ... One particular variant is the existence of the dorsoepitrochlearis or latissimocondyloideus muscle which is a muscle passing ... However, the remains of the gene are still present in the human genome as a vestigial genetic sequence called a pseudogene. ... a normal variant not to be mistaken for an abnormality" (PDF). AJNR Am J Neuroradiol. American Society of Neuroradiology. 20 (4 ...
"Genetic susceptibility variants for chronic lymphocytic leukemia". Cancer Epidemiology, Biomarkers & Prevention. 19 (4): 1098- ... A variant of GRAMD1B, characterized by the amino acid substitution S601P, has been associated with increased susceptibility to ... There are four validated isoform variants of human GRAMD1B. These consist of truncated 5' and 3' regions, resulting in the loss ... "Genetic susceptibility for chronic lymphocytic leukemia among Chinese in Hong Kong". European Journal of Haematology. 85 (6): ...
1980: Smith describes genetic programming. 1983: Kirkpatrick et al. propose simulated annealing. 1986: Glover proposes tabu ... Many different metaheuristics are in existence and new variants are continually being proposed. Some of the most significant ... Smith, S.F. (1980). A Learning System Based on Genetic Adaptive Algorithms (PhD Thesis). University of Pittsburgh. Wolpert, D.H ... Goldberg, D.E. (1989). Genetic Algorithms in Search, Optimization and Machine Learning. Kluwer Academic Publishers. ISBN 0-201- ...
In a human zinc-activated variant of CA1, the Michigan Variant, a single point mutation changes His 67 to Arg in a critical ... Omoto K, Ueda S, Goriki K, Takahashi N, Misawa S, Pagaran IG (Jan 1981). "Population genetic studies of the Philippine Negritos ... This variant of the zinc metalloenzyme appears to be unique in that it possesses esterase activity that is specifically ... Transcript variants of CA1 utilizing alternative polyA_sites have been described in literature. The human CA1 protein contains ...
In genetics, rs1800532 (A218C) is a genetic variant. It is a single nucleotide polymorphism in the TPH1 gene and located in ... Shih-Jen Tsai, Ying-Chieh Wang, Jen-Yeu Chen & Chen-Jee Hong (2003). "Allelic variants of the tryptophan hydroxylase (A218C) ...
In genetics, rs4680 (Val158Met) is a genetic variant. It is a single nucleotide polymorphism (SNP) in the COMT gene that codes ... "Personality in relation to genetic liability for schizophrenia and bipolar disorder: Differential associations with the COMT ...
"The ARVD/C genetic variants database: 2014 update". Human Mutation. 36 (4): 403-10. doi:10.1002/humu.22765. PMID 25676813. ... The phenotype of the Naxos disease variant of ARVD is unique in that it involves the hair and skin as well as the right ... Sen-Chowdhry S, Syrris P, McKenna WJ (Nov 2007). "Role of genetic analysis in the management of patients with arrhythmogenic ... Rampazzo A (2006). "Genetic bases of arrhythmogenic right ventricular Cardiomyopathy". Heart International. 2 (1): 17. doi: ...
The Genetic General (1960) (restored variant title: Dorsai!, 1976) Necromancer (1962) (variant title: No Room for Man) "Warrior ... variant title: On the Run, 1979) Time to Teleport (1960) Naked to the Stars (1961) Spacial Delivery (1961) Delusion World (1961 ... variant title: Lifeboat) (1977) (with Harry Harrison) Time Storm (1977) The Far Call (1978) Home from the Shore (1978) Pro ( ... contents different under variant title: Hoka! Hoka! Hoka!) (1998) -collection of stories published 1951 to 1956 Hoka! (1983) ( ...
... genetic variants and disease associations". Human Genomics. 9 (1). doi:10.1186/s40246-015-0029-z. PMC 4469999 . PMID 26054645. ...
Then, they could reliably identify fetal DNA, which would in turn allow them to diagnose certain fetal genetic conditions such ... So they wanted to focus on genetic fragments containing paternally inherited sequences the mother did not share, but had ...
An international team of 260 researchers has identified several rare genetic variations that can raise the risk of ... Study finds 12 genetic variants that raise the risk of ovarian cancer A large-scale study identifies 12 new genetic loci ... Further analyses are needed in order to uncover more rare genetic variants that may increase the risk of schizophrenia, the ... "Schizophrenia: Researchers pinpoint rare genetic risk variants." Medical News Today. MediLexicon, Intl., 28 Nov. 2016. Web.. 18 ...
We found a whole range of genetic variants that affect the impact of other variants, says Thompson, and we are beginning to ... Genetic Variants Build a Smarter Brain ScienceNOW ^ , 19 June 2012 , Moheb Costandi Posted on 06/25/2012 10:11:22 AM PDT by ... The researchers have now used the same strategy to identify more genetic variants associated with brain structure and IQ. In ... Earlier this year, Thompson and his colleagues reported that they had identified genetic variants associated with head size and ...
A new way of determining the genetic risk of depression may help predict which children and adolescents are most likely to face ... Complex genetic risk score to the rescue. The researchers explain that on an individual basis, the different genetic variants ... A new study looks at the genetic makeup of thousands of adults with depression to try to find an accurate way of predicting ... Researchers identify a genetic risk score that could help predict depression risk in the young. ...
This study adopts a new approach for fine mapping causal genetic variants for 21 autoimmune diseases, applying a novel ... Causal variants tend to occur near binding sites for master regulators of immune differentiation and stimulus-dependent gene ... We find that ∼90% of causal variants are non-coding, with ∼60% mapping to immune-cell enhancers, many of which gain histone ... Here we developed a fine-mapping algorithm to identify candidate causal variants for 21 autoimmune diseases from genotyping ...
Genetic variants influencing the transcriptome have been extensively studied. However, the impact of the genetic factors on the ... to determine if an association between protein abundance and a genetic variant is due to a structural variant of the protein or ... Identification of genetic variants influencing the human plasma proteome Message Subject (Your Name) has sent you a message ... Identification of genetic variants influencing the human plasma proteome. Åsa Johansson, Stefan Enroth, Magnus Palmblad, André ...
... study revealed at least six regions of the genome where humans and chimpanzees share the same combination of genetic variants. ... In a previous study last year, Przeworski and her team found that humans and gibbons shared genetic variation related to the ... The scientists examined the data, looking for cases in which genetic variations that arose in the ancestor of both species have ... "When we looked for genetic clues pointing to other, more ancient, examples of balancing selection, we found strong evidence for ...
A group of researchers has discovered a genetic variant that appears to have a significant impact on how quickly the brain ages ... A group of researchers has discovered a genetic variant that appears to have a significant impact on how quickly the brain ages ... the researchers said their findings do not establish a link between the genetic variant and neurodegenerative disease. However ... It then performed a genome-wide association study, meaning it looked for specific genetic variations that were associated with ...
Genetic variants which had been linked to educational attainment in other studies were observed in the subjects. The ... researchers found that these variants also had implications for a more health-conscious lifestyle and thus a lower risk of ... Genetic variants as markers. The study was based on SNPs (single nucleotide polymorphisms), which are thought to influence ... Genetic variants which had been linked to educational attainment in other studies were observed in the subjects. The ...
ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence. * ... Thus, P-gp variants may play a role in methadone absorption and distribution. We assessed the association between ABCB1 ... Part of the large inter-individual variability in efficacy may be accounted for by genetic factors. Methadone is a substrate of ... These data suggest that specific ABCB1 variants may have clinical relevance by influencing the methadone dose required to ...
Performance of common genetic variants in breast-cancer risk models.. Wacholder S1, Hartge P, Prentice R, Garcia-Closas M, ... We used information on traditional risk factors and 10 common genetic variants associated with breast cancer in 5590 case ... Genomewide association studies have identified multiple genetic variants associated with breast cancer. The extent to which ... were in the same quintile of risk as in a model without genetic variants; 32.5% were in a higher quintile, and 20.4% were in a ...
Genetic variants in apoptosis-related genes associated with colorectal hyperplasia.. Gerola S1, Nittka S, Kähler G, Tao S, ... To investigate a possible association between genetic polymorphisms and the occurrence of hyperplastic polyps (HP), we ...
The same genetic variation has been linked to other forms of addiction. ... German researchers believe a specific genetic variant is linked to Internet addiction. ... German researchers believe a specific genetic variant is linked to Internet addiction. The same genetic variation has been ... Genetic Variant Linked to Nicotine, Internet Addiction. By Rick Nauert PhD Associate News Editor ...
Researchers have identified a genetic variation that increases a persons susceptibility to developing bipolar disorder, a ... Home » News » Genetic Variant Heightens Risk for Bipolar Disorder. Genetic Variant Heightens Risk for Bipolar Disorder. By Rick ... Nauert PhD, R. (2015). Genetic Variant Heightens Risk for Bipolar Disorder. Psych Central. Retrieved on November 21, 2018, from ... "Further work is needed now to learn more about the biological processes that NCAN is involved in and how NCAN variants disturb ...
Instead, its the sum total of many genetic variants.. Despite this additional layer of complication, Dron has been able to ... Nonetheless, Dron has been able to identify several key genetic variants that influence cholesterol and triglyceride levels in ... She will highlight her research on human genetic variants that influence plasma lipid and lipoprotein levels. ... Dron is still actively analyzing new genetic variants and isnt daunted by the complexity. ...
Understanding the genetic architecture of colorectal cancer will revolutionize how we assess risk and treatment for this ... Genetic variants occur from differences in our DNA. Most variants are believed to be benign, some are known to be associated ... While individual genetic variants have little impact on disease risk, several combined variants can become clinically relevant ... has discovered 40 new genetic variants and validated 55 previously identified variants that signal an increased risk of colon ...
Further exploration of the identified genetic variants may provide insight into the speed of caffeine metabolism, how long ... Apart from smoking, genetic determinants of lifestyle behaviors have generally not been consistently described. This study is ... The NHS Breast Cancer GW scan was performed as part of the Cancer Genetic Markers of Susceptibility initiative of the NCI. We ... The studys success also suggests that additional genetic determinants of dietary and lifestyle behaviors may be identified in ...
Jetzt FUNCTIONAL GENETIC VARIANTS AND MENTAL DISORDERS von Ying Zhang versandkostenfrei bestellen bei, Ihrem Bücher ... Produktinformationen zu „FUNCTIONAL GENETIC VARIANTS AND MENTAL DISORDERS ". Klappentext zu „FUNCTIONAL GENETIC VARIANTS AND ... Kommentar zu "FUNCTIONAL GENETIC VARIANTS AND MENTAL DISORDERS". Keine Kommentare vorhanden. Jetzt bewerten ... 0 Gebrauchte Artikel zu „FUNCTIONAL GENETIC VARIANTS AND MENTAL DISORDERS". Zustand. Preis. Porto. Zahlung. Verkäufer. Rating. ...
Genetic variant may refer to: A single-nucleotide polymorphism (SNP), in case it is a common genetic variant A mutation, in a ... case where it is a rare genetic variant A copy-number variation Polymorphism (biology), the effect of genetic variants: a range ...
Background Genome wide association studies of patients with European descent have identified common variants associated with ... However, the genetic variant tested is often not the responsible functional variant but simply associated with, termed in LD ... Genetic variants were tested for association with the development of CKD (eGFR , 60 ml/min/1.73m2) and effects were compared ... Eight genetic variants in four genes (SHROOM3, MYH9, SLC7A9, and CST3) were genotyped in 160 CKD patients and 189 ethnicity- ...
A new study into the genetics underlying restless legs syndrome has identified 13 previously-unknown genetic risk variants, ... Several of the genetic variants have previously been linked to the growth and development of nerve cells - a process known as ... "The genetic risk variants that weve discovered add more weight to the idea that this condition is related to the development ... A new study into the genetics underlying restless legs syndrome has identified 13 previously-unknown genetic risk variants, ...
Genetic variants of the alcohol-metabolizing enzyme ADH4, located on chromosome 4q22-4q23, have been related to alcohol ... Association of ADH4 genetic variants with alcohol dependence risk and related phenotypes: results from a larger multicenter ... Both variants-rs1800759 and rs1042364-and the A-A and C-G haplotypes were significantly related to AD across samples. ... This study confirms the significant relationship of ADH4 variants with AD and related phenotypes. While the rs1800759 and ...
Researchers have identified five gene variants that raise the risk for suicide attempts in people suffering from depression. ... Genetic Variants in Depressed People Raise Suicide Risk. Print this page MONDAY, Feb. 1 -- Researchers have identified five ... Home › News › Consumer News › Genetic Variants in Depressed People Raise Suicide Risk ... Five variants were more common in patients who had attempted suicide, the researchers found. People with three of the most ...
"Wrecks of Ancient Life": Genetic Variants Vetted by Natural Selection Message Subject (Your Name) has forwarded a page to you ... "Wrecks of Ancient Life": Genetic Variants Vetted by Natural Selection. View ORCID ProfileJohn H. Postlethwait ... "Wrecks of Ancient Life": Genetic Variants Vetted by Natural Selection. View ORCID ProfileJohn H. Postlethwait ... "Wrecks of Ancient Life": Genetic Variants Vetted by Natural Selection. View ORCID ProfileJohn H. Postlethwait ...
Variant genotypes Is the Subject Area "Variant genotypes" applicable to this article? Yes. No. ... Genetic loci Is the Subject Area "Genetic loci" applicable to this article? Yes. No. ...
Anderson Cancer Center have discovered genetic variations in the inflammation pathway that reduce the likelihood of recurrence ... Genetic variants predict recurrence of bladder cancer, patient survival. April 20, 2009. ... "This genetic information is an essential step toward constructing a blueprint that will determine treatment response and follow ... Only 22 percent of patients with the variant-containing genotypes had a recurrence with the same treatment. The results suggest ...
  • They identified 24 genetic variations within six different genes, all of which were linked to differences in the structural integrity of major brain pathways. (
  • Genetic variants in apoptosis-related genes associated with colorectal hyperplasia. (
  • To investigate a possible association between genetic polymorphisms and the occurrence of hyperplastic polyps (HP), we developed a custom DNA chip assay for 1,536 SNPs in the coding and flanking regions of 826 genes with known functional roles in apoptosis or apoptosis-associated (e.g., stress-related) pathways. (
  • Clinical studies have demonstrated the associations of genetic variants in candidate genes with susceptibility to several common mental diseases such as schizophrenia, depression, bipolar. (
  • Clinical studies have demonstrated the associations of genetic variants in candidate genes with susceptibility to several common mental diseases such as schizophrenia, depression, bipolar disorders, and drug addiction, but little was known about the underlying mechanisms. (
  • Eight genetic variants in four genes ( SHROOM3, MYH9, SLC7A9, and CST3 ) were genotyped in 160 CKD patients and 189 ethnicity-matched healthy controls. (
  • The risk variant in all four genes demonstrated the same direction of effect as observed in European populations. (
  • The identified variants and genes can yield novel insights into disease pathogenesis. (
  • That said, Conwell added, the best way to look at suicide is in the interactions between genes and environment, and the variability in suicidality explained by genetic profiles is relatively small. (
  • We also calculated genetic correlations - the extent to which various traits and disorders are caused by the same genes,' said Bulik. (
  • The sequence data of 1005 Qatari individuals were systematically analyzed for incidental genetic variants in the 59 genes suggested by the American College of Medical Genetics and Genomics. (
  • However, these genes only account for a few percent of families with autism, and considering all other genes on the 22 other (non-XY) chromosomes, only about 15% of the genetic causes of autism are known. (
  • To answer this question, scientists based at the New York Genome Center (NYGC) and Columbia University have delved into large genomic datasets to find an explanation for variable penetrance, that is, variability in the signs and symptoms of diseases caused variants in protein-coding genes. (
  • Conversely, in cancer and autism patients, we observed an enrichment of penetrance increasing haplotype configurations for pathogenic variants in disease-implicated genes, providing evidence that regulatory haplotype configuration of coding variants affects disease risk. (
  • Scientists have identified a previously unknown connection between two genetic variants and an increased risk of stroke, providing strong evidence for the existence of specific genes that help explain the genetic component of stroke. (
  • In the largest study of its kind to date, a North American research team has found an explanation for the problems with memory, attention and learning that some children and teens experience following childhood ALL therapy: cognitive deficits are associated with variants in three genes related to the ability to combat oxidative stress or brain inflammation. (
  • A series of neurocognitive tests were conducted and results were correlated with data from genomic analysis obtained by using cutting-edge technology, to determine the presence of common variants in 23 genes previously shown to be related to drug metabolism, oxidative stress (a form of cellular damage whereby an imbalance between the production of free radicals impacts the body's ability to detoxify their effects), brain inflammation, corticosteroids and folate physiology. (
  • In their pioneering study of African-Americans, Dr. Rotimi and his colleagues found that all of the five genetic variants associated with blood pressure were located in or near genes that code for proteins thought to be biologically important in hypertension and blood pressure. (
  • Previous research had implicated two of those genes in blood pressure regulation, and additional analyses by Dr. Rotimi's group revealed that all of the variants are likely involved in biological pathways and networks related to blood pressure and hypertension. (
  • Independent veterinary professionals weighed the dogs and assessed their body condition score, and the scientists searched for variants of three candidate obesity-related genes. (
  • Identification of the putative causal variants and their target genes and whether they lead to gain or loss of function remains challenging. (
  • A curated database of genes associated with dietary restriction in model organisms either from genetic manipulation experiments or gene expression profiling. (
  • The extent to which genetic variation affects an individual's phenotype has been difficult to predict because the majority of variation lies outside the coding regions of genes. (
  • We analysed associations between skeletal muscle force (Fmax) and power (Pmax) and germline genetic variants from 1039 genes derived through whole-exome sequencing. (
  • Several small studies have identified structural variants in several neurodevelopmental genes that appear to contribute to TS risk, but none of them met the statistical threshold of genome-wide significance. (
  • While these gene variants were present in 1 percent of individuals affected with TS in this study, the investigators note that finding these genes is a key starting point towards understanding the neurologic pathways that contribute to TS in a broader group of patients. (
  • In the last 2 years, 13 further regions containing Everyone has genes inherited from each of their parents. Some genes have slight differences in the order of their chain of proteins. These differences are known as inherited genetic variants. ">inherited genetic variants have been identified, most of which seem to influence the immune system. (
  • Importantly, the scale of this type of variant-scanning experiment was almost unimaginable just a couple of years ago, and we are excited about applying it to study many other genes related to drug response. (
  • Variants in these genes explain a large proportion of congenital and childhood deafness, but not adult deafness. (
  • Previous studies by our group and others suggest that variants of opioid genes may contribute to the observed variation, possibly through effects on alcohol-induced dopamine release. (
  • The groups consisted of those who carried a copy of the gene for the 118G mu-opioid receptor variant, and those who carried only genes for the more common 118A variant. (
  • In a separate experiment, they inserted genes for the human 118G or 118A mu-opioid receptor variants into mice and then directly measured the animals' dopamine response to a dose of alcohol. (
  • Most previously known genetic risk factors for breast cancer, like those in the BRCA1 and BRCA2 genes, confer strongly increased risk of the disease but are quite rare, and therefore account for only a small proportion of inherited breast cancer risk in the general population. (
  • The region surrounding the variant on chromosome 2 harbors no known genes, so the mechanism by which it impacts risk reamians to be elucidated. (
  • A number of genes or variants which play a crucial role in drug response have been summarized as the Very Important Pharmacogenes(VIP) by PharmGKB database. (
  • C promoter SNP (rs20417) is the best-studied variant in PTGS2.NR1I2 is a key regulator for the expression of genes involvedin all stages of drug metabolism and transport. (
  • They identified variant rs10757278 on chromosome 9p21, adjacent to the tumor suppressor genes CDKN2A and CDKN2B, was associated with MI with high significance ( p = 1.00 × 10 −20 , odds ratio (OR) = 1.28, 95% confidence interval (CI) 1.22-1.35) [ 3 ]. (
  • Few people are aware of the immense number of other genetic variants in and around BRCA1 and other genes that may predispose to hereditary breast and ovarian cancer. (
  • If the ratio of approximately 20 DNA sequence variants per gene holds over the entire genome (with approximately 20,000 genes) that means that every person who elects to have their genome sequenced will be provided with almost half a million Variants of Unknown Significance. (
  • The new mutations have boosted to 47 the total number of DNA variants that have thus far been linked to an increased risk for developing CAD, said Panos Deloukas, Ph.D., who co-led the study and heads the Genetics of Complex Traits in Humans research group at the Wellcome Trust Sanger Institute, Cambridge, UK. (
  • Identifying the genetic mutations that set the stage for CAD enables researchers to investigate the underlying mechanisms of the disease, which may lead to therapeutic targeting through drugs, he said. (
  • A study that found multiple minority patients had previously been given positive results for the risk for hypertrophic cardiomyopathy on the basis of genetic mutations subsequently known to be benign elicited discussion among neurogeneticists about the importance of sequencing more diverse populations. (
  • The paper reported that multiple minority patients had previously been given positive results for the risk for hypertrophic cardiomyopathy on the basis of the presence of genetic mutations now known to be benign. (
  • Washington, Oct 29 (ANI): A new study has identified genetic variants in women with BRCA2 mutations that may increase or decrease their risk of developing breast cancer. (
  • While BRCA2 mutations are rare, the ZNF365 variant is more common, seen in one in ten individuals. (
  • In addition, researchers found that other variants, including FGFR2, recognized to increase breast cancer risk in the general population, also served as risk modifiers for women with BRCA2 mutations. (
  • Our goal in this study was to test the hypothesis that common genetic variants may modify cancer risk in those already carrying 'high risk' mutations," said the study's senior author, Kenneth Offit. (
  • It was found that every individual of European decent has on average 94.6 unique variants of these mutations, of which 24.6 are presumed to affect the function of the corresponding gene product. (
  • What's now needed is also software that can analyse all genetic information more efficiently and predict which of the patient's mutations will impact on the treatment outcomes. (
  • If we are not looking for the correct genetic mutations when we run a laboratory test, we are doing a disservice to minority populations. (
  • There was no significant difference in variant allele frequencies of established pathogenic NOD2 mutations between sarcoid patients with and without uveitis. (
  • Polymorphism in the human genome can be maintained by either mutation-selection, whereby new variants appear constantly due to mutations in individuals, and selection culls many of them, or by balancing selection, whereby different variants have important functions but involve tradeoffs so that a tug-of-war between them results in an equilibrium. (
  • Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects , Jonathan Sebat et al. (
  • Here we present unique and comprehensive identification of genetic variants affecting the human plasma protein profile by combining high-throughput and high-resolution mass spectrometry (MS) with genome-wide SNP data. (
  • Forty new genetic variants that signal an increased risk of colon cancer discovered, stated the most comprehensive genome-wide association study, or GWAS, of colorectal cancer risk to date, published today in Nature Genetics. (
  • Genome wide association studies of patients with European descent have identified common variants associated with risk of reduced estimated glomerular filtration rate (eGFR). (
  • In May, two major international studies used the genome-wide association approach to identify 13 genetic variants associated with blood pressure and hypertension in people with primarily European and South Asian ancestry. (
  • To understand the genetic risk factors for VTE specific to African Americans, a team of researchers led by Dr. Perera conducted a genome-wide association study in which they genotyped DNA samples from 578 African Americans, 146 of whom had a history of unprovoked VTE. (
  • The causal linkage of AD-associated genetic variants identified in genome-wide association studies and genome sequencing studies to molecular and biological cell phenotypes in human neural cells is expected to give greater insight into molecular targets contributing to the etiology of AD. (
  • Genome-wide association studies (GWAS) and the Alzheimer's Disease Sequencing Project (ADSP) have identified several genetic variants that contribute to the risk of late-onset AD. (
  • We examined the evidence for association of genome wide genetic markers with incident CHD using the high density custom array MetaboChip using data from two U.S. cohort studies comprising 7,967 African American individuals (Women's Health Initiative and the Atherosclerosis Risk in Communities). (
  • Genome-wide association studies (GWAS) are considered to be new and powerful approaches to detect the genetic variants of human complex diseases. (
  • It turns out that if you feed into [BigQuery] genetic variant calls from a cohort of patients, you can do queries against that, and in a matter of seconds, you can ask questions about allelic frequency, genome-wide association, linkage to phenotypic traits or drug treatments in a way that's just kind of mind-blowingly fast. (
  • Understanding the genetic architecture of colorectal cancer will revolutionize how we assess risk and treatment for this disease, which is the second most deadly cancer in U.S." In 2009, Peters initiated and has since led the Genetics and Epidemiology of Colorectal Cancer Consortium, the world's largest molecular genetic consortium for colorectal cancer. (
  • He has made groundbreaking contributions in developing the zebrafish as a molecular genetic model and in understanding the evolution of new gene functions in vertebrates. (
  • To do an even better job at risk prediction, we need to include this genetic profile into breast cancer risk models, along with other relevant information like family history, lifestyle risk factors, previous biopsies, and breast density," says study co-author Fergus Couch, Ph.D., a molecular geneticist and pathologist at Mayo Clinic. (
  • Common variants at VRK2 and TCF4 conferring risk of schizophrenia," Human Molecular Genetics , vol. 20, no. 20, pp. 4076-4081, 2011. (
  • But Innocenti explained that the study does not provide a mechanism for how this gene-flanking variant causes stroke, and said more molecular and experimental studies should be conducted to support the association, which remains only statistical at the present time. (
  • The better we understand the causes of PD at a genetic, molecular level, the greater our chances of predicting the disease and developing treatments that could mitigate or even reverse this disease. (
  • Through collaboration between the Centers for Disease Control and Prevention (CDC) and members of the clinical-laboratory and non-profit-research communities, 35 DNA samples containing many common RS genetic variants have now been characterized and made publicly available, eliminating a major stumbling-block for investigators and opening the possibility of earlier, more accurate diagnosis of Rett syndrome, reports The Journal of Molecular Diagnostics. (
  • If dimer formation can be reduced molecular beacons can be integrated into more complex hybridization systems providing an important tool in research and diagnosis of genetic disorders. (
  • For the individual patient, the tests used today don't give enough information, which means that if we're to provide real personalized drug treatment we need to characterise the entire genetic variability of the patient," says Magnus Ingelman-Sundberg , Professor of Molecular Toxicology and Principal Investigator at Karolinska Institutet's Department of Physiology and Pharmacology . (
  • I learned about my variant from Dr. Robert Green, a clinical geneticist at Harvard Medical School, and his colleague Matthew Lebo, the director of bioinformatics at the Laboratory for Molecular Medicine at Partners HealthCare. (
  • In addition to these somatic molecular alterations, germ line polymorphic variants in the EGF/EGFR pathway have also been implicated in tumor risk, therapy response, and patient outcome ( 17-20 ). (
  • Researchers have developed a molecular map that pinpoints genetic variants that play a role in 21 different autoimmune diseases, providing new insight into the cause of multiple sclerosis and other autoimmune diseases. (
  • Epidemiologist Sarah Medland of the Queensland Institute of Medical Research in Australia adds another note of caution: Most large-scale genetic studies replicate their findings using preexisting sets of data, Medland says, but 'There was no replication here. (
  • Because the tissues the team studied all came from people free of brain disease, the researchers said their findings do not establish a link between the genetic variant and neurodegenerative disease. (
  • Our findings suggest that these genetic factors not only affect educational attainment to a certain extent, but also the risk of subsequently developing cardiovascular disease," explains Schunkert. (
  • Prof Juliane Winkelmann, who heads the Institute of Neurogenomics at the Helmholtz Zentrum as well as a restless legs syndrome outpatient clinic at the Klinikum Rechts der Isar in Munich, adds: "Our genetic findings are an important step towards developing new and improved treatment options for our patients. (
  • We have a long way to go to understand the mechanisms of suicide, so this kind of work is very hopeful and findings like this that identify some significant associations between genetic patterns and a lifetime history of suicidal behavior are certainly intriguing and potentially important, [but] they have a long way to go to translate to suicide preventive interventions. (
  • Our findings offer initial insights into the genetic basis of a problem of global proportions and the potential for an improved understanding of blood pressure regulation," Newton-Cheh and colleagues conclude. (
  • To the best of our knowledge, this is the first comprehensive analysis of incidental genetic findings in any Arab population and suggests ethnic differences in incidental findings. (
  • Our findings suggest that a person's disease risk is potentially determined by a combination of their regulatory and coding variants, and not just one or the other," says Tuuli Lappalainen, Ph.D., a core faculty member at the NYGC, an assistant professor of systems biology at Columbia University, and the lead author of the current study. (
  • Bethesda, Md. , Thurs., July 16, 2009 - A team led by researchers from the National Institutes of Health today reported the discovery of five genetic variants related to blood pressure in African-Americans, findings that may provide new clues to treating and preventing hypertension. (
  • Although the effect of each individual genetic variant was modest, our findings extend the scope of what is known generally about the genetics of human hypertension. (
  • The findings raise the issue of genetic testing of heart patients. (
  • We hope that findings like this will encourage more people to participate in genetic studies. (
  • Our findings suggest that studies of African ancestry individuals may contribute to characterization of the genetic architecture of CHD traits. (
  • The findings, published in Nature Genetics , are a major advance in the fight to tackle the incurable, degenerative condition, which has virtually no symptoms in the early stages and affects 480,000 people in England and millions worldwide, and could pave the way for a genetic-based screening program. (
  • A report of the findings, which include human genetic analyses and gene knockout studies in animals, appears in the Dec. 23 issue of Nature. (
  • Based on their findings the researchers estimate that in The Netherlands alone the RIPOR2 genetic variant is likely to present "in more than 13,000 individuals who are therefore at risk of developing [hearing loss] or who have developed [hearing loss] already due to this variant. (
  • A report of the findings which help explain the diverse genetic susce. (
  • The findings add further support to the notion that individuals who possess this receptor variant may experience enhanced pleasurable effects from alcohol that could increase their risk for developing alcohol abuse and dependence. (
  • The team was able to prove statistically that individuals with a lower score of genetic variants associated with educational attainment were more likely to smoke, be overweight and suffer from high blood pressure. (
  • For this purpose, the relationship between genetic variants and educational attainment was statistically cleansed, i.e. adjusted for the actual years of schooling completed. (
  • One variant, rs4821480, in MYH9 was significantly associated with increased risk of development of CKD (OR = 1.69, 95% CI 1.22-2.36, P = 0.002), but the additional variants were not statistically significant given our modest sample size. (
  • For diseases like type 2 diabetes and heart disease, the GWAS approach drives the discovery of new biology and potential drug targets," explained Dr. Jeroen Huyghe, who co-led the study's statistical genetic analysis and is a staff scientist at Fred Hutch. (
  • Studies have also addressed the impact of genetic variability on levels of endogenous metabolites, such as sugars, biogenic amines, acylcarnitines, and glycerophospho- and sphingolipids, which can be measured in either human urine or plasma. (
  • Part of the large inter-individual variability in efficacy may be accounted for by genetic factors. (
  • This research tells us that genetic differences between patients may explain some of the variability in reaction to treatment and we are hopeful it may soon be possible that genetic testing will help us predict which patients are going to be susceptible to various toxic reactions, and adjust their treatment accordingly. (
  • "It's not just that the most rare variants are different from the most common, it's that at every increase in frequency, a variant is less and less likely to be found in a functional region of the DNA," Goldstein said. (
  • It's consistent with the idea that many diseases may be partly caused by rare variants. (
  • The fact that we see so many rare variants is in part due to the fact that human populations have been growing very rapidly," Novembre said. (
  • We modeled the influence of carrying a TCF7L2 variant (i.e., having 1 or 2 minor alleles) on the number of islet autoantibodies and oral glucose tolerance test (OGTT)-stimulated C-peptide and glucose measures at diabetes diagnosis. (
  • The researchers also found that some of the variants are associated with intelligence , in that individuals carrying them performed several points better on standardized IQ tests than others. (
  • We found a whole range of genetic variants that affect the impact of other variants,' says Thompson, 'and we are beginning to understand the guiding principles of these gene networks. (
  • These genetic variants generally were infrequently found in the DNA of the 130,681 individuals without heart disease who were in the control group. (
  • But, unexpectedly, we also found strong genetic correlations with various metabolic features including body composition (BMI) and insulin-glucose metabolism. (
  • We found that carrying a particular genetic variant of LTA4H seems to offer protection against TB in the Vietnamese patients and leprosy in the Nepalese patients," says Dr Sarah Dunstan from the Oxford University Clinical Research in Ho Chi Minh City, part of the Wellcome Trust's South East Asia programme in Vietnam. (
  • They found that genetic variants associated with overall risk tolerance tend to also be associated with more risky behaviors, such as speeding, drinking, tobacco and cannabis consumption, and with riskier investments and sexual behaviors. (
  • While each variant was associated with only a slight increase in blood pressure, that work found that the more variants an individual had, the greater his or her risk of hypertension. (
  • Surprisingly, these variants were found in much lower frequency in other ethnicities from previous studies. (
  • The CHD variants are not necessarily found to associate with stroke, and vice versa. (
  • One of the tests used to diagnose type 2 diabetes and monitor blood sugar control is influenced by 60 genetic variants, an international team of scientists, including those from the Wellcome Trust Sanger Institute, has found. (
  • In the span of only a few months, we experimentally studied close to 3,000 variants in this gene in parallel and found that 30% are damaging, which we predicted to cause thiopurine toxicity in patients. (
  • A multinational research team led by scientists at the National Institutes of Health has found that a genetic variant of a brain receptor molecule may contribute to violently impulsive behavior when people who carry it are under the influence of alcohol. (
  • Interestingly, we found that the genetic variant alone was insufficient to cause people to act in such ways," notes Dr. Goldman. (
  • But this genetic variant was also found in three other family members aged 23, 40, and 51, who didn't yet have any hearing loss. (
  • The identical genetic variant was found in 39 of 40 family members with confirmed hearing loss as well as in two people aged 49 and 50 who weren't affected by hearing loss. (
  • What's more, the RIPOR2 genetic variant was found in a further 18 out of 22,952 randomly selected people for whom no information on hearing loss was available. (
  • They found that only people with the 118G variant had a dopamine response to alcohol no such response happened in subjects with the 118A receptor variant. (
  • Results: We found there were three the selected VIP variant genotype frequencies in these ethnic minorities which differed from thoseof the CHB, JPT and CEU, respectively (p (
  • Variants of one particular genetic region were found to be associated with increased mitotic errors shortly after fertilization. (
  • This category is for variants that have never been found before. (
  • Genetic variants altering dopamine D2 receptor expression or function modulate the risk of opiate addiction and the dosage requirements of methadone substitution," Pharmacogenetics and Genomics , vol. 19, no. 6, pp. 407-414, 2009. (
  • Google Genomics and Tute Genomics have announced that a Tute database of 8.5 billion annotations of genetic variants is publiclyavailable through Google Genomics . (
  • They recognized that Google Genomics and BigQuery together make it possible to do some really interesting things with genetic variants and prior knowledge, Bingham said. (
  • A consistent variant classification system is central to the use of genomics in patient care. (
  • We find that ∼ 90% of causal variants are non-coding, with ∼ 60% mapping to immune-cell enhancers, many of which gain histone acetylation and transcribe enhancer-associated RNA upon immune stimulation. (
  • Causal variants tend to occur near binding sites for master regulators of immune differentiation and stimulus-dependent gene activation, but only 10-20% directly alter recognizable transcription factor binding motifs. (
  • Our studies in two separate cohorts have shown that the type 2 diabetes-associated TCF7L2 genetic variant is more frequent among specific subsets of individuals with autoimmune type 1 diabetes, specifically those with fewer markers of islet autoimmunity ( 22 , 23 ). (
  • Given that only a fraction of all patients will suffer from this particular complication, we investigated whether it could be predicted by genetic markers. (
  • Identifying these two genetic markers is an enormous step forward, and we are absolutely thrilled to reach this medical milestone. (
  • The predictive genetic markers could be measured as early as birth, even though glaucoma develops later in adulthood," said co-author Mr Anthony Khawaja (UCL Institute of Ophthalmology and the NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust). (
  • However, the impact of the genetic factors on the human proteome is largely unexplored, mainly due to lack of suitable high-throughput methods. (
  • She will highlight her research on human genetic variants that influence plasma lipid and lipoprotein levels. (
  • Genotyping was performed at the Broad Institute of MIT and Harvard, with funding support from the NIH GEI (U01HG04424), and Johns Hopkins University Center for Inherited Disease Research, with support from the NIH GEI (U01HG004438) and the NIH contract "High throughput genotyping for studying the genetic contributions to human disease" (HHSN268200782096C). (
  • Professor Stephen O'Rahilly, Co-Director of the Wellcome Trust-Medical Research Council Institute of Metabolic Science, says: "Common genetic variants affecting the POMC gene are associated with human body weight and there are even some rare obese people who lack a very similar part of the POMC gene to the one that is missing in the dogs. (
  • Database of human genetic variants associated with longevity. (
  • Welcome to the LongevityMap, a database of human genetic variants associated with longevity. (
  • The goal of this FOA is to establish functional genotype-phenotype relationships of genetic variants, suspected of altering the risk of Alzheimer's disease (AD), in neural cells using human induced pluripotent stem cells or other human cell reprogramming approaches. (
  • The vast majority of genetic variants in the human genome remain uncharacterized. (
  • Discovery of a genetic variant which predicts impulsive behavior under certain conditions in one human population may have much wider implications," says NIAAA Acting Director Kenneth R. Warren, Ph.D. "The interaction with alcohol intoxication is interesting, as is the apparent involvement of a neurotransmitter pathway that has been regarded as important in addictions and other behavior. (
  • Myocardial infarction (MI) is a complex human disease with a strong genetic component [ 1 ]. (
  • Bingham gives an example for cost and speed: 88 GB of human genetic variants joined against the Tute dataset can be done in 30 seconds for less than $1. (
  • Identifying variants that are significant or likely to be significant is a difficult task, which may require expert human and in silico analysis, laboratory experiments, and even information theory. (
  • These data suggest that specific ABCB1 variants may have clinical relevance by influencing the methadone dose required to prevent withdrawal symptoms and relapse in this population. (
  • Combining the information we have with other aspects such as clinical, epidemiological and behavioral variables, as well as tumor characteristics, patient characteristics and other genetic information will allow treating physicians to know whether their patient is likely to respond to therapy or experience a recurrence. (
  • Although the autoimmune destruction of β-cells has a major role in the development of type 1 diabetes, there is growing evidence that the differences in clinical, metabolic, immunologic, and genetic characteristics among patients ( 1 ) likely reflect diverse etiology and pathogenesis ( 2 ). (
  • Genetic test makers, including those using next-gen sequencing, can use genetic variant information in the Clinical Genome Resource (ClinGen) to support clinical validity in premarket submissions to FDA. (
  • This paper presents the first dosing model for tacrolimus using a combination of genetic and clinical factors in adult kidney transplant recipients. (
  • AIM To develop a dosing equation for tacrolimus, using genetic and clinical factors from a large cohort of kidney transplant recipients. (
  • Clinical factors and six genetic variants were screened for importance towards tacrolimus clearance (CL/ F ). (
  • In pursuit of that mission, Natera operates a CAP-accredited laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA) in San Carlos, Calif. , currently offering a host of preconception and prenatal genetic testing services primarily to OB/GYN physicians and in vitro fertilization centers. (
  • The genetic associations were replicated in an independent sample of 594 subjects. (
  • The associations between the genetic variants and BMI were obtained from the GIANT consortium and the relationship between the same genetic variants and Parkinson disease was ascertained from a recent meta-analysis that included 13,708 cases of Parkinson disease and 95,282 controls. (
  • The report in the June 21 issue of Neuron also describes finding an overall increase in the presence of large, rare, risk-associated copy-number variants - areas of the genome that are either duplicated or deleted - in TS patients, many being observed in just a single patient. (
  • The results identified an overall increase in large copy-number variants - most of them over 1 Mb in size - among participants with TS, with each variant primarily occurring in just one individual. (
  • Here, we address this question for humans specifically from the perspective of population allele frequency of variants across the complete genome, including both coding and noncoding regions. (
  • ExAC (short for the Exome Aggregation Consortium) is a compendium of genetic information that went online in October 2014. (