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.
Any method used for determining the location of and relative distances between genes on a chromosome.
Genetic loci associated with a QUANTITATIVE TRAIT.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
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.
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.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
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.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Genotypic differences observed among individuals in a population.
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.
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.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
The functional hereditary units of BACTERIA.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.
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.
Mouse strains constructed to possess identical genotypes except for a difference at a single gene locus.
A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
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.
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.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Proteins found in any species of bacterium.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
The 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.
Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations, or by parent x offspring matings carried out with certain restrictions. All animals within an inbred strain trace back to a common ancestor in the twentieth generation.
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.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
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.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
An individual having different alleles at one or more loci regarding a specific character.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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)
The relationships of groups of organisms as reflected by their genetic makeup.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
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)
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.
Genes which regulate or circumscribe the activity of other genes; specifically, genes which code for PROTEINS or RNAs which have GENE EXPRESSION REGULATION functions.
Mapping of the linear order of genes on a chromosome with units indicating their distances by using methods other than genetic recombination. These methods include nucleotide sequencing, overlapping deletions in polytene chromosomes, and electron micrography of heteroduplex DNA. (From King & Stansfield, A Dictionary of Genetics, 5th ed)
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.
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).
An individual in which both alleles at a given locus are identical.
Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
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.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Animals that are produced through selective breeding to eliminate genetic background differences except for a single or few specific loci. They are used to investigate the contribution of genetic background differences to PHENOTYPE.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
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.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The functional hereditary units of PLANTS.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
The transfer of bacterial DNA by phages from an infected bacterium to another bacterium. This also refers to the transfer of genes into eukaryotic cells by viruses. This naturally occurring process is routinely employed as a GENE TRANSFER TECHNIQUE.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A subdiscipline of genetics which deals with the genetic basis of the immune response (IMMUNITY).
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
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.
Individuals whose ancestral origins are in the continent of Europe.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
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.
The magnitude of INBREEDING in humans.
Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
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.
The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. The pathogenic capacity of an organism is determined by its VIRULENCE FACTORS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR).
The systematic study of the complete DNA sequences (GENOME) of organisms.
A parasexual process in BACTERIA; ALGAE; FUNGI; and ciliate EUKARYOTA for achieving exchange of chromosome material during fusion of two cells. In bacteria, this is a uni-directional transfer of genetic material; in protozoa it is a bi-directional exchange. In algae and fungi, it is a form of sexual reproduction, with the union of male and female gametes.
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
Biochemical identification of mutational changes in a nucleotide sequence.
The sequential location of genes on a chromosome.
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.
Genes that influence the PHENOTYPE only in the homozygous state.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
The ability of microorganisms, especially bacteria, to resist or to become tolerant to chemotherapeutic agents, antimicrobial agents, or antibiotics. This resistance may be acquired through gene mutation or foreign DNA in transmissible plasmids (R FACTORS).
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.
Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
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.
The functional hereditary units of INSECTS.
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.
The genetic complement of a plant (PLANTS) as represented in its DNA.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
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.
Change brought about to an organisms genetic composition by unidirectional transfer (TRANSFECTION; TRANSDUCTION, GENETIC; CONJUGATION, GENETIC, etc.) and incorporation of foreign DNA into prokaryotic or eukaryotic cells by recombination of part or all of that DNA into the cell's genome.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
A plant genus of the family BRASSICACEAE that contains ARABIDOPSIS PROTEINS and MADS DOMAIN PROTEINS. The species A. thaliana is used for experiments in classical plant genetics as well as molecular genetic studies in plant physiology, biochemistry, and development.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
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.
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.
Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).
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.
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
A family of gram-positive bacteria found regularly in the mouth and intestinal tract of man and other animals, in food and dairy products, and in fermenting vegetable juices. A few species are highly pathogenic.
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
Established cell cultures that have the potential to propagate indefinitely.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
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.
Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
A subdiscipline of genetics which deals with the genetic mechanisms and processes of microorganisms.
The genetic complement of a BACTERIA as represented in its DNA.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
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.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.
A characteristic symptom complex.
The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes which control the structure of the IMMUNE RESPONSE-ASSOCIATED ANTIGENS, HUMAN; the IMMUNE RESPONSE GENES which control the ability of an animal to respond immunologically to antigenic stimuli, and genes which determine the structure and/or level of the first four components of complement.
A genus of minute bacteria in the family ACHOLEPLASMATACEAE that inhabit phloem sieve elements of infected PLANTS and cause symptoms such as yellowing, phyllody, and witches' brooms. Organisms lack a CELL WALL and thus are similar to MYCOPLASMA in animals. They are transmitted by over 100 species of INSECTS especially leafhoppers, planthoppers, and PSYLLIDS.
Techniques to alter a gene sequence that result in an inactivated gene, or one in which the expression can be inactivated at a chosen time during development to study the loss of function of a gene.
Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.
The functional hereditary units of FUNGI.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
A serotype of Salmonella enterica that is a frequent agent of Salmonella gastroenteritis in humans. It also causes PARATYPHOID FEVER.
Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).
A species of gliding bacteria found on soil as well as in surface fresh water and coastal seawater.
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Transport proteins that carry specific substances in the blood or across cell membranes.
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.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Deletion of sequences of nucleic acids from the genetic material of an individual.
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.
Persons or animals having at least one parent in common. (American College Dictionary, 3d ed)
An antineoplastic agent with alkylating properties. It also acts as a mutagen by damaging DNA and is used experimentally for that effect.
A social group consisting of parents or parent substitutes and children.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Polysaccharides found in bacteria and in capsules thereof.
Strains of mice arising from a parental inbred stock that was subsequently used to produce substrains of knockout and other mutant mice with targeted mutations.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
The encapsulated embryos of flowering plants. They are used as is or for animal feed because of the high content of concentrated nutrients like starches, proteins, and fats. Rapeseed, cottonseed, and sunflower seed are also produced for the oils (fats) they yield.
The property of objects that determines the direction of heat flow when they are placed in direct thermal contact. The temperature is the energy of microscopic motions (vibrational and translational) of the particles of atoms.
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
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.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.
Cis-acting DNA sequences which can increase transcription of genes. Enhancers can usually function in either orientation and at various distances from a promoter.
The capacity of a normal organism to remain unaffected by microorganisms and their toxins. It results from the presence of naturally occurring ANTI-INFECTIVE AGENTS, constitutional factors such as BODY TEMPERATURE and immediate acting immune cells such as NATURAL KILLER CELLS.
Deoxyribonucleic acid that makes up the genetic material of fungi.
A genus of gram-negative, aerobic, rod-shaped bacteria that activate PLANT ROOT NODULATION in leguminous plants. Members of this genus are nitrogen-fixing and common soil inhabitants.
Fungal genes that mostly encode TRANSCRIPTION FACTORS. In some FUNGI they also encode PHEROMONES and PHEROMONE RECEPTORS. The transcription factors control expression of specific proteins that give a cell its mating identity. Opposite mating type identities are required for mating.
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
The heritable modification of the properties of a competent bacterium by naked DNA from another source. The uptake of naked DNA is a naturally occuring phenomenon in some bacteria. It is often used as a GENE TRANSFER TECHNIQUE.
Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.
A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.
Mathematical procedure that transforms a number of possibly correlated variables into a smaller number of uncorrelated variables called principal components.
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.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Deoxyribonucleic acid that makes up the genetic material of plants.
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.

Spontaneous regression over time of the germinal epithelium in a Y chromosome-microdeleted patient: Case report. (1/3144)

Azoospermia factor (AZF) region microdeletions, which account for about 10-15% of patients with oligoazoospermia, seem to lack a close genotype-testicular phenotype correlation. Although many genetic and non-genetic factors may contribute to this outcome, it was thought that a spontaneous regression of testicular germ cells might also play a relevant role. The opportunity for carrying out two different testicular biopsies one year apart in an AZFc-microdeleted patient enabled corroboration of this possibility. Indeed, the first biopsy showed a spermatocyte maturation arrest with mean Johnsen scores of 4 and 3.9 in the right and left testes respectively. One year later, the right testicular biopsy showed a picture of Sertoli cell-only syndrome in 90% of the tubules examined, and of spermatogonial maturation arrest in the remaining tubules, with a mean Johnsen score of 2.1. The almost complete absence of germinal cells was confirmed by four left testicular sperm aspirations (TESA), conducted at the same time as the biopsy during an intracytoplasmic sperm injection cycle, which showed the almost exclusive presence of Sertoli cells (85% of the whole cell population). No spermatozoa could be retrieved by TESA or testicular biopsy. To our knowledge, this is the first case of a spontaneous regression of the germinal cell epithelium over time in a patient with a Yq microdeletion without the apparent intervention of any cause known to affect the germinal epithelium.  (+info)

High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. (2/3144)

We have developed a rapid screening protocol for deletion analysis of the complete AZFa sequence (i.e. 792 kb) on the Y chromosome of patients with idiopathic Sertoli-cell-only (SCO) syndrome. This Y deletion was mapped earlier in proximal Yq11 and first found in the Y chromosome of the SCO patient JOLAR, now designated as the AZFa reference patient. We now show that similar AZFa deletions occur with a frequency of 9% in the SCO patient group. In two multiplex polymerase chain reaction experiments, deletions of the complete AZFa sequence were identified by a typical deletion pattern of four new sequence-tagged sites (STS): AZFa-prox1, positive; AZFa-prox2, negative; AZFa-dist1, negative; AZFa-dist2, positive. The STS were established in the proximal and distal neighbourhoods of the two retroviral sequence blocks (HERV15yq1 and HERV15yq2) which encompass the break-point sites for AZFa deletions of the human Y chromosome. We have found deletions of the complete AZFa sequence always associated with a uniform SCO pattern on testicular biopsies. Patients with other testicular histologies as described in the literature and in this paper have only partial AZFa deletions. The current AZFa screening protocols can therefore be improved by analysing the extension of AZFa deletions. This may provide a valuable prognostic tool for infertility clinics performing testicular sperm extraction, as it would enable the exclusion of AZFa patients with a complete SCO syndrome.  (+info)

Y-chromosome microdeletions and cytogenetic findings in unselected ICSI candidates at a Danish fertility clinic. (3/3144)

PURPOSE: To determine the frequency and type of microdeletions on the Y chromosome, and to evaluate cytogenetic findings in unselected ICSI candidates at a Danish Fertility Clinic. METHODS: Genomic DNA was extracted from blood samples, which were collected prospectively from 400 ICSI candidates attending the Fertility Clinic at Aarhus University Hospital, Denmark. Twenty-five sequence tagged sites (STSs) spanning the azoospermia factor (AZF) regions of the Y chromosome were amplified in 5 multiplex sets to investigate Y microdeletions. Semen analysis, karyotype analysis, and histological evaluation of testicular biopsies were also performed. RESULTS: Y microdeletions were detected in 3 (0.75%) of 400 unselected ICSI candidates. The frequency of Y microdeletions was found higher in azoospermic men (2%) than in oligozoospermic men (0.6%). Two patients having oligozoospermia had Y microdeletions in the AZFc region only, whereas the patient having azoospermia had Y microdeletions spanning the AZFb and AZFc regions. No microdeletion was detected in the AZFa region. Chromosomal anomalies were found in 6.1% of azoospermic men and in 2.7% of oligozoospermic men. A high frequency of cytogenetic abnormalities was found in normozoospermic men with fertilization failure (7.4%). CONCLUSIONS: The frequency of Y microdeletions both in the unselected ICSI candidates and subgroups classified as azoospermic and oligozoospermic seems rather low compared to results of previous studies, which have been quite varying. It is possible that in addition to patient selection criteria, ethnical and geographical differences may contribute to these variations. Cytogenetic evaluation of normozoospermic men with fertilization failure seems indicated because of a high frequency of cytogenetic abnormalities.  (+info)

Absence of anti-Mullerian hormone (AMH) and M2A immunoreactivities in Sertoli cell-only syndrome and maturation arrest with and without AZF microdeletions. (4/3144)

BACKGROUND: Some genes identified in the AZF locus are expressed only in germinal cells; others are ubiquitous. AZF microdeletions seem to occur at the earliest stages of ontogenetic development, and one might therefore assume that Sertoli cells preserve some immature characteristics and that their immunophenotype may be modified by the existence of a molecular defect. MATERIALS AND METHODS: Two immunohistological markers of Sertoli cell immaturity [anti-Mullerian hormone (AMH) and M2A] were tested in two histopathological groups (maturation arrest at spermatocyte I stage and Sertoli cell-only syndrome). We analysed 68 testicular samples obtained from 39 patients with non-obstructive azoospermia associated or not with AZF microdeletions. RESULTS: The absence of M2A and AMH immunoreactivity in adult gonads was observed without any correlation to spermatogenetic impairment or molecular deficit in the AZF region. In the samples of these two series, Sertoli cells showed a mature phenotype for AMH and M2A markers. CONCLUSIONS: In patients with AZF microdeletions, the genotype-phenotype correlations seem to be more complex than has been suggested previously; more detailed characterization of the immunohistochemical phenotype associated with the molecular defect may be useful in understanding the spermatogenic failure mechanism.  (+info)

Natural transmission of a partial AZFb deletion of the Y chromosome over three generations: case report. (5/3144)

The natural transmission of microdeletions of the Y chromosome is occasionally reported in the literature. Here we describe the natural transmission of a partial AZFb deletion over three generations. PCR amplification of several sequence tagged site markers in the three AZF regions of the Y chromosome was carried out in a patient with oligoasthenoteratozoospermia, his father and his naturally conceived son. The deletion was confirmed by Southern blotting. The propositum, his father and his son showed a probably identical, partial deletion of the distal part of the AZFb region, involving sY130 and sY143. The deletion was confirmed by Southern blotting using the sY130 probe. Partial AZFb microdeletions can be associated with moderate oligozoospermia allowing natural conception and therefore natural transmission of this genetic anomaly. Further studies are needed to define the pathogenetic significance of microdeletions involving sY130 and sY143.  (+info)

Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. (6/3144)

BACKGROUND: Severe spermatogenic compromise may be the result of a Y-chromosomal deletion of the AZFc region. Prior studies are limited to relatively small numbers of AZFc-deleted men. In this study, we have fully characterized 42 infertile men with a Y chromosome microdeletion strictly confined to the AZFc region, and we report on 18 children conceived through the use of ICSI. METHODS: A total of 42 oligospermic or azoospermic men had AZFc deletions. History, physical examination, karyotype, FSH, LH, testosterone, testis histology and results of ICSI using ejaculated or testis sperm were retrospectively accumulated in two academic clinical practices. RESULTS: All men were somatically healthy. Karyotypes were 46,XY in all but two men. FSH, LH, testosterone and testis histology could not differentiate those with oligospermia or azoospermia, nor could they predict whether sperm could be found in harvested testis tissue. Paternal age was not increased. Sperm production appeared stable over time. The results of ICSI were not affected by the AZFc deletion. All but one of the offspring were healthy. The sons inherited the AZFc deletion with no increase in length. CONCLUSIONS: AZFc-deleted men are somatically healthy, will most likely have useable sperm, will have stable sperm production over time and will have a good chance to experience biological paternity, but their sons will also be AZFc-deleted.  (+info)

AZF microdeletions associated with idiopathic and non-idiopathic cases with cryptorchidism and varicocele. (7/3144)

AIM: To identify submicroscopic interstitial deletions in azoospermia factor (AZF) loci in idiopathic and non-idiopathic cases of male infertility in Indians. METHODS: One hundred and twenty two infertile males with oligozoospermia or azoospermia were included in this study. Semen analysis was done to determine the sperm density, i.e., normospermia (>20 million/mL), oligozoospermia (<20 million/mL) or azoospermia. They were subjected to detailed clinical examination and endocrinological and cytogenetic study. Thirty G-banded metaphases were analyzed in the 122 cases and polymerase chain reaction (PCR) microdeletion analysis was done in 70 cytogenetically normal subjects. For this genomic DNA was extracted using peripheral blood. The STS primers tested in each case were sY84, sY86 (AZFa); sY127, sY134 (AZFb); sY254, sY255 (AZFc). PCR amplifications found to be negative were repeated at least 3 times to confirm the deletion of a given marker. The PCR products were analyzed on a 1.8 % agarose gel. RESULTS: Eight of the 70 cases (11.4 %) showed deletion of at least one of the STS markers. Deletions were detected in cases with known and unknown aetiology with bilateral severe testiculopathy and also in cryptorchid and varicocele subjects. CONCLUSION: AZF microdeletions were seen in both idiopathic and non-idiopathic cases with cryptorchidism and varicocele. The finding of a genetic aetiology in infertile men with varicocele and cryptorchidism suggests the need for molecular screening in non-idiopathic cases.  (+info)

PCR analysis of Yq microdeletions in infertile males, a study from South India. (8/3144)

AIM: To estimate the frequency of microdeletions in the long arm of Y-chromosome of 20 infertile males from South India. METHODS: Polymerase chain reaction (PCR) amplification using Y-specific STS of azoospermia factor (AZF) regions i.e., SY 84 for AZFa, SY 127 for AZFb and SY 254 for AZFc. RESULTS: Of the 20 infertile subjects 3 (15 %), one azoospermic and two oligozoospermic, showed microdeletions in the AZF region of Y-chromosome. CONCLUSION: The frequency of deletions involving AZF region of the Y-chromosome is 15 % in azoospermic and severely oligozoospermic infertile men. PCR amplification of AZF locus is useful for the diagnosis of microdeletions in the Y-chromosome.  (+info)

TY - JOUR. T1 - A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. AU - Olama, Ali Amin Al. AU - Kote-Jarai, Zsofia. AU - Berndt, Sonja I.. AU - Conti, David V.. AU - Schumacher, Fredrick. AU - Han, Ying. AU - Benlloch, Sara. AU - Hazelett, Dennis J.. AU - Wang, Zhaoming. AU - Saunders, Ed. AU - Leongamornlert, Daniel. AU - Lindstrom, Sara. AU - Jugurnauth-Little, Sara. AU - Dadaev, Tokhir. AU - Tymrakiewicz, Malgorzata. AU - Stram, Daniel O.. AU - Rand, Kristin. AU - Wan, Peggy. AU - Stram, Alex. AU - Sheng, Xin. AU - Pooler, Loreall C.. AU - Park, Karen. AU - Xia, Lucy. AU - Tyrer, Jonathan. AU - Kolonel, Laurence N.. AU - Marchand, Loic Le. AU - Hoover, Robert N.. AU - Machiela, Mitchell J.. AU - Yeager, Merideth. AU - Burdette, Laurie. AU - Chung, Charles C.. AU - Hutchinson, Amy. AU - Yu, Kai. AU - Goh, Chee. AU - Ahmed, Mahbubl. AU - Govindasami, Koveela. AU - Guy, Michelle. AU - Tammela, Teuvo L.J.. AU - Auvinen, Anssi. AU - Wahlfors, ...
Complete information for BMIQ14 gene (Genetic Locus), Body Mass Index QTL14, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Complete information for CMR1A gene (Genetic Locus), Cardiomyopathy, Restrictive 1A (Autosomal Dominant), including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
[Identification of changes in gene loci potentially associated with cervical cancer using NotI microarrays].: The investigation of the cancer-associated structu
TY - JOUR. T1 - 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population. AU - Takata, Ryo. AU - Takahashi, Atsushi. AU - Fujita, Masashi. AU - Momozawa, Yukihide. AU - Saunders, Edward J.. AU - Yamada, Hiroki. AU - Maejima, Kazuhiro. AU - Nakano, Kaoru. AU - Nishida, Yuichiro. AU - Hishida, Asahi. AU - Matsuo, Keitaro. AU - Wakai, Kenji. AU - Yamaji, Taiki. AU - Sawada, Norie. AU - Iwasaki, Motoki. AU - Tsugane, Shoichiro. AU - Sasaki, Makoto. AU - Shimizu, Atsushi. AU - Tanno, Kozo. AU - Minegishi, Naoko. AU - Suzuki, Kichiya. AU - Matsuda, Koichi. AU - Kubo, Michiaki. AU - Inazawa, Johji. AU - Egawa, Shin. AU - Haiman, Christopher A.. AU - Ogawa, Osamu. AU - Obara, Wataru. AU - Kamatani, Yoichiro. AU - Akamatsu, Shusuke. AU - Nakagawa, Hidewaki. PY - 2019/12/1. Y1 - 2019/12/1. N2 - Genome-wide association studies (GWAS) have identified ~170 genetic loci associated with prostate cancer (PCa) risk, but most of them were identified in ...
Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining similar to 14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P , 5 x 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid ...
The present study aimed to discover novel susceptibility loci associated with risk of rheumatoid arthritis (RA).We performed a new genome-wide association study (GWAS) in Chinese subjects (1027 RA cases and 2879 controls) and further conducted an expanded meta-analysis with previous GWAS summary data and replication studies. The functional roles of the associated loci were interrogated using publicly available databases. Dual-luciferase reporter and cytokine assay were also used for exploring variant function.We identified five new susceptibility loci (IL12RB2, BOLL-PLCL1, CCR2, TCF7 and IQGAP1; pmeta ,5.00E-08) with same effect direction in each study cohort. The sensitivity analyses showed that the genetic association of at least three loci was reliable and robust. All these lead variants are expression quantitative trait loci and overlapped with epigenetic marks in immune cells. Furthermore, genes within the five loci are genetically associated with risk of other autoimmune diseases, and ...
GWAS has enormously contributed to the identification of susceptibility genes for T2D and many other complex disorders. The discovery of new susceptibility loci in GWAS of different ethnic groups emphasizes the need for conducting more GWAS in populations of diverse ethnic groups. Our study also shows the potential of identifying new signals through GWAS in population of different ethnicity. In this study, we performed a GWAS in Indians and identified a new signal for T2D on chromosome 2q21.. The strongest signal on newly identified locus 2q21 mapped to TMEM163. The association of TMEM163 variants (rs6723108 and rs998451) with reduced fasting plasma insulin levels and HOMA-IR indicates that it might modulate susceptibility to T2D by affecting insulin secretion. Previously, rs6723108 has also been suggested to be associated with waist circumference. These data indicate the biological relevance of the identified locus with T2D. TMEM163 encodes a synaptic vesicle membrane protein with six putative ...
Bei, J.-X., Jia, W.-H., Feng, B.-J., Chen, L.-Z., Feng, Q.-S., Kang, T., Liu, J., Zeng, Y.-X., Li, Y., Low, H.-Q., Zhou, G., Zhang, H., He, F., Tai, E.S., Liu, E.T. (2010). A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. Nature Genetics 42 (7) : 599-603. [email protected] Repository. https://doi.org/10.1038/ng. ...
Genome-wide association studies (GWAS) have identified approximately 100 breast cancer risk loci. Translating these findings into a greater understanding of the mechanisms that influence disease risk requires identification of the genes or non-coding RNAs that mediate these associations. Here, we use Capture Hi-C (CHi-C) to annotate 63 loci; we identify 110 putative target genes at 33 loci. To assess the support for these target genes in other data sources we test for associations between levels of expression and SNP genotype (eQTLs), disease-specific survival (DSS), and compare them with somatically mutated cancer genes. 22 putative target genes are eQTLs, 32 are associated with DSS and 14 are somatically mutated in breast, or other, cancers. Identifying the target genes at GWAS risk loci will lead to a greater understanding of the mechanisms that influence breast cancer risk and prognosis ...
by Barbara Stranger, Qiyuan Li, Ji-Heui Seo, Aaron McKenna, Itsik Peer, Thomas LaFramboise, Myles Brown, Svitlana Tyekucheva, Matthew L. Freedman Germline determinants of gene expression in tumors are infrequently studied due to the complexity of transcript regulation caused by somatically acquired alterations. We performed expression quantitative trait locus (eQTL)-based analyses using the multi-level information provided in The Cancer Genome Atlas (TCGA). Of the factors we measured, cis-acting eQTLs accounted for 1.2% of the total variation of tumor gene expression, while somatic copy-number alteration and CpG methylation accounted for 7.3% and 3.3%, respectively. eQTL analyses of 15 previously reported breast cancer risk loci resulted in the discovery of three variants that are significantly associated with transcript levels (false discovery rate [FDR] < 0.1). Our trans-based analysis identified an additional three risk loci to act through ESR1, MYC, and KLF4. These findings provide a more ...
Erdmann J, Grosshennig A, Braund PS, König IR, Hengstenberg C, Hall AS, Linsel-Nitschke P, Kathiresan S, Wright B, Trégouët DA, Cambien F, Bruse P, Aherrahrou Z, Wagner AK, Stark K, Schwartz SM, Salomaa V, Elosua R, Melander O, Voight BF, ODonnell CJ, Peltonen L, Siscovick DS, Altshuler D, Merlini PA, Peyvandi F, Bernardinelli L, Ardissino D, Schillert A, Blankenberg S, Zeller T, Wild P, Schwarz DF, Tiret L, Perret C, Schreiber S, El Mokhtari NE, Schäfer A, März W, Renner W, Bugert P, Klüter H, Schrezenmeir J, Rubin D, Ball SG, Balmforth AJ, Wichmann HE, Meitinger T, Fischer M, Meisinger C, Baumert J, Peters A, Ouwehand WH, Deloukas P, Thompson JR, Ziegler A, Samani NJ, Schunkert H, ...
Lambert, Jean-Charles, Ibrahim-Verbaas, Carla A., Harold, Denise, Naj, Adam C., Sims, Rebecca, Bellenguez, Céline, Jun, Gyungah, DeStefano, Anita L., Bis, Joshua C., Beecham, Gary W., Grenier-Boley, Benjamin, Russo, Giancarlo, Thornton-Wells, Tricia A., Denning, Nicola, Smith, Albert V., Chouraki, Vincent, Thomas, Charlene, Ikram, M. Arfan, Zelenika, Diana, Vardarajan, Badri N., Kamatani, Yoichiro, Lin, Chiao-Feng, Gerrish, Amy, Schmidt, Helena, Kunkle, Brian, Dunstan, Melanie, Ruiz, Agustin, Bihoreau, Marie-Thérèse, Choi, Seung-Hoan, Reitz, Christiane, Pasquier, Florence, Hollingworth, Paul, Ramirez, Alfredo, Hanon, Olivier, Fitzpatrick, Annette L., Buxbaum, Joseph D., Campion, Dominique, Crane, Paul K, Baldwin, Clinton, Becker, Tim, Gudnason, Vilmundur, Cruchaga, Carlos, Craig, David, Amin, Najaf, Berr, Claudine, Lopez, Oscar L., De Jager, Philip L., Deramecourt, Vincent, Johnston, Janet A., Evans, Denis, Lovestone, Simon, Letenneur, Luc, Morón, Francisco J., Rubinsztein, David C., ...
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|p|Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P | 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wi|/p| …
There is mounting evidence that endometriosis is inherited as a complex trait, like diabetes or asthma. This implies there are environmental factors, such as dioxin, that are interacting with multiple genetic susceptibility loci to produce the phenotype. The Oxford Endometriosis Gene OXEGENE study, an international collaborative project seeks...
Like GRCh37, the updated reference assembly provides alternate sequence representation for variant regions in the form of alternate loci (alt loci) scaffolds. The alt loci are stand-alone, accessioned sequences for which chromosomal context is provided via alignment to the reference chromosomes. All alternate loci include at least one anchor sequence, a component also found on the reference chromosomes, to ensure these alignments are of high quality. Alt loci belong to alternate loci assembly units: the assembly unit ALT_REF_LOCI_1 contains the first alternate sequence representation for any genomic locus, ALT_REF_LOCI_2 contains the second alternate sequence representation and so forth. GRCh38 contains 261 alt loci scaffolds, in 35 alternate assembly units. 72 of these alternate loci were previously available as NOVEL patches to GRCh37. The LRC/KIR complex on chr. 19 has the largest number of alternate sequence representations (35), followed by the MHC on chr. 6 (7 ...
Researchers unearthed 75 risk loci, 42 of them new, and nominated candidate genes for each. A polygenic risk score based on all variants predicted AD risk with high accuracy.. ...
This article, which contained no data, represents a departure from McClintocks previous published work, which had been based primarily on empirical data collected during research. It demonstrated again her fascination with the fundamental theoretical and philosophical problems of genetics ...
Using the Immunochip custom SNP array, which was designed for dense genotyping of 186 loci identified through genome-wide association studies (GWAS), we analyzed 11,475 individuals with rheumatoid arthritis (cases) of European ancestry and 15,870 controls for 129,464 markers. We combined these data in a meta-analysis with GWAS data from additional independent cases (n = 2,363) and controls (n = 17,872). We identified 14 new susceptibility loci, 9 of which were associated with rheumatoid arthritis overall and five of which were specifically associated with disease that was positive for anticitrullinated peptide antibodies, bringing the number of confirmed rheumatoid arthritis risk loci in individuals of European ancestry to 46. We refined the peak of association to a single gene for 19 loci, identified secondary independent effects at 6 loci and identified association to low-frequency variants at 4 loci. Bioinformatic analyses generated strong hypotheses for the causal SNP at seven loci. This ...
TY - JOUR. T1 - Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. AU - Forstbauer, Lina M. AU - Brockschmidt, Felix F. AU - Moskvina, Valentina. AU - Herold, Christine. AU - Redler, Silke. AU - Herzog, Alexandra. AU - Hillmer, Axel M. AU - Meesters, Christian. AU - Heilmann, Stefanie. AU - Albert, Florian. AU - Alblas, Margrieta. AU - Hanneken, Sandra. AU - Eigelshoven, Sibylle. AU - Giehl, Kathrin A. AU - Jagielska, Dagny. AU - Blume-Peytavi, Ulrike. AU - Garcia Bartels, Natalie. AU - Kuhn, Jennifer. AU - Hennies, Hans Christian. AU - Goebeler, Matthias. AU - Jung, Andreas. AU - Peitsch, Wiebke K. AU - Kortüm, Anne-Katrin. AU - Moll, Ingrid. AU - Kruse, Roland. AU - Lutz, Gerhard. AU - Wolff, Hans. AU - Blaumeiser, Bettina. AU - Böhm, Markus. AU - Kirov, George. AU - Becker, Tim. AU - Nöthen, Markus M. AU - Betz, Regina C. PY - 2012/3. Y1 - 2012/3. N2 - Alopecia areata (AA) is a common hair loss disorder, which is thought to be a ...
Dendrobium huoshanense (Orchidaceae) is a perennial herb and a widely used medicinal plant in Traditional Chinese medicine (TCM) endemic to Huoshan County town in Anhui province in Southeast China. A microsatellite-enriched genomic DNA library of D. huoshanense was developed and screened to identify marker loci. Eleven polymorphic loci were isolated and analyzed by screening 25 individuals collected from a natural population. The number of alleles per locus ranged from 2 to 5. The observed and expected heterozygosities ranged from 0.227 to 0.818 and from 0.317 to 0.757, respectively. Two loci showed significant deviations from Hardy-Weinberg equilibrium and four of the pairwise comparisons of loci revealed linkage disequilibrium (p < 0.05). These microsatellite loci were cross-amplified for five congeneric species and seven loci can be amplified in all species. These simple sequence repeats (SSR) markers are useful in genetic studies of D. huoshanense and other related species and in conservation
Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohns disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we performed a cross-disease meta-analysis including GWAS data from 5,734 SSc patients, 4,588 CD patients and 14,568 controls of European origin. We identified 4 new loci shared between SSc and CD, IL12RB2, IRF1/SLC22A5, STAT3 and an intergenic locus at 6p21.31. Pleiotropic variants within these loci showed opposite allelic effects in the two analysed diseases and all of them showed a significant effect on gene expression. In addition, an enrichment in the IL-12 family and type I interferon signaling pathways was observed among the set of SSc-CD common genetic risk loci. In conclusion, through the first cross-disease meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two ...
Background:Crohns disease (CD) is an intractable inflammatory bowel disease of unknown cause. Recent genome-wide association studies of CD in Korean and Japanese populations suggested marginal sharing of susceptibility loci between Caucasian and Asian populations. As the 7 identified loci altogethe
Read Isolation and characterization of twelve polymorphic microsatellite loci in the buff-throated partridge (Tetraophasis szechenyii), Russian Journal of Genetics on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium and 8,514 UK population controls across 196,524 variants within 186 known autoimmune risk loci. We identified 3 loci newly associated with PBC (at P|5×10(-8)), increasing the number of known susceptibility loci …
Levine DM., Ek WE., Zhang R., Liu X., Onstad L., Sather C., Lao-Sirieix P., Gammon MD., Corley DA., Shaheen NJ., Bird NC., Hardie LJ., Murray LJ., Reid BJ., Chow W-H., Risch HA., Nyrén O., Ye W., Liu G., Romero Y., Bernstein L., Wu AH., Casson AG., Chanock SJ., Harrington P., Caldas I., Debiram-Beecham I., Caldas C., Hayward NK., Pharoah PD., Fitzgerald RC., Macgregor S., Whiteman DC., Vaughan TL ...
TY - JOUR. T1 - Association analysis identifies 65 new breast cancer risk loci. AU - Michailidou, Kyriaki. AU - Lindström, Sara. AU - Dennis, Joe. AU - Beesley, Jonathan. AU - Hui, Shirley. AU - Kar, Siddhartha. AU - Lemaçon, Audrey. AU - Soucy, Penny. AU - Glubb, Dylan. AU - Rostamianfar, Asha. AU - Bolla, Manjeet K. AU - Wang, Qin. AU - Tyrer, Jonathan. AU - Dicks, Ed. AU - Lee, Andrew. AU - Wang, Zhaoming. AU - Allen, Jamie. AU - Keeman, Renske. AU - Eilber, Ursula. AU - French, Juliet D. AU - Qing Chen, Xiao. AU - Fachal, Laura. AU - McCue, Karen. AU - McCart Reed, Amy E. AU - Ghoussaini, Maya. AU - Carroll, Jason S. AU - Jiang, Xia. AU - Finucane, Hilary. AU - Adams, Marcia. AU - Adank, Muriel A. AU - Ahsan, Habibul. AU - Aittomäki, Kristiina. AU - Anton-Culver, Hoda. AU - Antonenkova, Natalia N. AU - Arndt, Volker. AU - Aronson, Kristan J. AU - Arun, Banu. AU - Auer, Paul L. AU - Bacot, François. AU - Barrdahl, Myrto. AU - Baynes, Caroline. AU - Beckmann, Matthias W. AU - Behrens, ...
Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic ...
TY - JOUR. T1 - Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. AU - Estrada, K.. AU - Styrkarsdottir, U.. AU - Evangelou, E.. AU - Hsu, Y.H.. AU - Duncan, E.L.. AU - Ntzani, E.E.. AU - Oei, L.. AU - Albagha, O.M.E.. AU - Amin, N.. AU - Kemp, J.P.. AU - Koller, D.L.. AU - Li, G.. AU - Liu, C.T.. AU - Minster, R.L.. AU - Moayyeri, A.. AU - Vandenput, L.. AU - Willner, D.. AU - Xiao, S.M.. AU - Yerges-Armstrong, L.M.. AU - Zheng, H.F.. AU - Alonso, N.. AU - Eriksson, J.. AU - Kammerer, C.M.. AU - Kaptoge, S.K.. AU - Leo, P.J.. AU - Thorleifsson, G.. AU - Wilson, S.G.. AU - Wilson, J.F.. AU - Aalto, V.. AU - Alen, M.. AU - Aragaki, A.K.. AU - Aspelund, T.. AU - Center, J.R.. AU - Dailiana, Z.. AU - Duggan, DJ. AU - Garcia, M.. AU - Garcia-Giralt, N.. AU - Giroux, S.. AU - Hallmans, G.. AU - Hocking, L.J.. AU - Husted, L.B.. AU - Jameson, K.A.. AU - Khusainova, R.. AU - Kim, G.S.. AU - Kooperberg, C.. AU - Koromila, T.. AU - ...
Kar, SP, Beesley, J, Al Olama, AA, Michailidou, K, Tyrer, J, Kote-Jarai, ZA, Lawrenson, K, Lindstrom, S, Ramus, SJ, Thompson, DJ et al, Kibel, AS, Dansonka-Mieszkowska, A, Michael, A, Dieffenbach, AK, Gentry-Maharaj, A, Whittemore, AS, Wolk, A, Monteiro, A, Peixoto, A, Kierzek, A, Cox, A, Rudolph, A, Gonzalez-Neira, A, Wu, AH, Lindblom, A, Swerdlow, A, Ziogas, A, Ekici, AB, Burwinkel, B, Karlan, BY, Nordestgaard, BG, Blomqvist, C, Phelan, C, McLean, C, Pearce, CL, Vachon, C, Cybulski, C, Slavov, C, Stegmaier, C, Maier, C, Ambrosone, CB, Hogdall, CK, Teerlink, CC, Kang, D, Tessier, DC, Schaid, DJ, Stram, DO, Cramer, DW, Neal, DE, Eccles, D, Flesch-Janys, D, Edwards, DRV, Wokozorczyk, D, Levine, DA, Yannoukakos, D, Sawyer, EJ, Bandera, EV, Poole, EM, Goode, EL, Khusnutdinova, E, Hogdall, E, Song, F, Bruinsma, F, Heitz, F, Modugno, F, Hamdy, FC, Wiklund, F, Giles, GG, Olsson, H, Wildiers, H, Ulmer, H-U, Pandha, H, Risch, HA, Darabi, H, Salvesen, HB, Nevanlinna, H, Gronberg, H, Brenner, H, Brauch, ...
Patterns of biodiversity and evolutionary processes controlling them are still poorly studied in desert biomes. Fine-scale markers could help answer some of the pressing research questions for desert biomes and Sahara in particular. Such markers are available for some large mammals and crocodiles, but not for small vertebrates. Here we present a battery of microsatellite loci developed for Agama boulengeri, a promising model to study evolutionary and demographic processes in the Sahara-Sahel. Loci were selected by sequencing enriched DNA libraries with 454 pyrosequencing. A total of 23 polymorphic loci were successfully amplified in four multiplex reactions. Cross-amplification of the microsatellite loci in A. agama and A. boueti was partially successful. These markers are a promising tool for assessing genetic diversity, gene-flow dynamics and demographic patterns in this group. Given the genus Agama is distributed throughout Africa, results presented here might also facilitate studies in other ...
Figure 2 The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions Terms and Conditions
NIH Funding Opportunities and Notices in the NIH Guide for Grants and Contracts: Genome-Wide Association Analysis of Existing Data Sets for Arthritis and Musculoskeletal and Skin Diseases (R01) PAR-08-123. NIAMS
Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer. AP Klein;B Wolpin;H Risch;R Stolzenberg-Solomon;E Mocci;M Zhang;O Obazee;E Childs;J Hoskins;A Jermusyk;J Zhong;F Chen;D Albanes;G Andreotti;A Arslan;A Babic;W Bamlet;L Beane-Freeman;S Berndt;A Blackford;M Borges;A Borgida;P Bracci;L Brais;P Brennan;H Brenner;B Bueno-de-Mesquita;J Buring;D Campa;G Capurso;G Cavestro;K Chaffee;C Chung;S Cleary;M Cotterchio;F Dijk;E Duell;L Foretova;C Fuchs;N Funel;S Gallinger;JM Gaziano;M Gazouli;G Giles;E Giovannucci;M Goggins;G Goodman;P Goodman;T Hackert;P Hartge;M Hasan;P Hegyi;K Helzlsouer;J Herman;I Holcatova;E Holly;R Hoover;R Hung;E Jacobs;K Jamroziak;V Janout;R Kaaks;K-T Khaw;EA Klein;M Kogevinas;C Kooperberg;M Kulke;J Kupcinskas;R Kurtz;D Laheru;S Landi;R Lawlor;I-M Lee;L LeMarchand;L Lu;N Malats;A Mambrini;S Mannisto;R Milne;B Mohelnikova-Duchonova;R Neale;J Neoptolemos;A Oberg;S Olson;I Orlow;C Pasquali;A Patel;U Peters;R Pezzilli;M Porta;F Real;N Rothman;G Scelo;H ...
Given the anthropometric differences between men and women and previous evidence of sex-difference in genetic effects, we conducted a genome-wide search for sexually dimorphic associations with height, weight, body mass index, waist circumference, hip circumference, and waist-to-hip-ratio (133,723 individuals) and took forward 348 SNPs into follow-up (additional 137,052 individuals) in a total of 94 studies. Seven loci displayed significant sex-difference ( ...
SwePub titelinformation: Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk
In jlim-1.0.2/examples, we provide the following dataset: - MS/MS-indexSNP.tsv Master file containing the list of index SNPs of known GWAS hits to run JLIM. As an example, we include two GWAS hits and ImmunoChip intervals covering them (chr1:160697074-160933065 and chr12:57626582-58488667). The GWAS hits are originally from IMSGC. Nature Genetics 2013. - MS/ Summary statistics of association to Multiple Sclerosis as primary trait. A separate summary statistic file is provided for each interval listed in the indexSNP file. The data are originally from IMSGC. Nature Genetics 2013. - LCL/ eQTLs in Lymphoblastoid cell lines (LCL) as secondary trait. A separate directory is provided for each interval listed in the indexSNP file. For each interval, two files are provided for each gene to be analyzed: summary association file (.assoc.linear.gz) and permutation file (.mperm.dump.all.gz), which are both generated by plink. In addition, plink ped file (LCL.ped.gz) is provided to calculate in-sample LD ...
The deeper understanding of non-coding RNAs has recently changed the dogma of molecular biology assuming protein-coding genes as unique functional …
Warren, H. R., E. Evangelou, C. P. Cabrera, H. Gao, M. Ren, B. Mifsud, I. Ntalla, et al. 2017. Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. Nature genetics 49 (3): 403-415. doi:10.1038/ng.3768. http://dx.doi.org/10.1038/ng.3768 ...
Oncotarget | https://doi.org/10.18632/oncotarget.14200 Jianjun Yu, Yan Liu, Zhaojian Gong, Shanshan Zhang, Can Guo, Xiayu Li, Yanyan Tang, Liting Yang, Yi He, Fang Wei, Yumin Wang, Qianjin Liao, Wenling Zhang,...
Later, a systematic search of the 65,000 felons in the Arizona database revealed that there were 122 pairs that matched at 9 of 13 loci. Twenty pairs matched at 10 loci. When I heard about this, I wondered if the F.B.I. is totally off its rocker when it comes to the probabilities it gives about DNA matches. Is it possible that the F.B.I. is right about the statistics it cites, and that there could be 122 nine-out-of-13 matches in Arizonas database? Perhaps surprisingly, the answer turns out to be yes. Lets say that the chance of any two individuals matching at any one locus is 7.5 percent. In reality, the frequency of a match varies from locus to locus, but I think 7.5 percent is pretty reasonable. For instance, with a 7.5 percent chance of matching at each locus, the chance that any 2 random people would match at all 13 loci is about 1 in 400 trillion. If you choose exactly 9 loci for 2 random people, the chance that they will match all 9 is 1 in 13 billion. Those are the sorts of numbers the ...
Characterization of the Duplex-comb locus by genetic mapping and whole genome sequencing.(A) The genomic region to which the Duplex-comb locus was mapped to; ad
Average locus differences in mutability related to protein class: a hypothesis.: Substantially less genetic variation has been recognized in studies of the pr
Unusual comQXPA-like loci.(A) Non-canonical unusual com system is present in B. cereus VD102, B. cereus BAG4X12 1, B. cereus MSX A1 and L. fusiformis ZC1. Note
TY - JOUR. T1 - Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. AU - Rioux, John D.. AU - Xavier, Ramnik J.. AU - Taylor, Kent D.. AU - Silverberg, Mark S.. AU - Goyette, Philippe. AU - Huett, Alan. AU - Green, Todd. AU - Kuballa, Petric. AU - Barmada, M. Michael. AU - Datta, Lisa. AU - Shugart, Yin Yao. AU - Griffiths, Anne M.. AU - Targan, Stephan R.. AU - Ippoliti, Andrew F.. AU - Bernard, Edmond Jean. AU - Mei, Ling. AU - Nicolae, Dan L.. AU - Regueiro, Miguel. AU - Schumm, L. Philip. AU - Steinhart, A. Hillary. AU - Rotter, Jerome I.. AU - Duerr, Richard H.. AU - Cho, Judy H.. AU - Daly, Mark J.. AU - Brant, Steven R.. PY - 2007/5. Y1 - 2007/5. N2 - We present a genome-wide association study of ileal Crohn disease and two independent replication studies that identify several new regions of association to Crohn disease. Specifically, in addition to the previously established CARD15 and IL23R associations, we ...
TY - JOUR. T1 - A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia. AU - Zhao, Han. AU - Xu, Jianfeng. AU - Zhang, Haobo. AU - Sun, Jielin. AU - Sun, Yingpu. AU - Wang, Zhong. AU - Liu, Jiayin. AU - Ding, Qiang. AU - Lu, Shaoming. AU - Shi, Rong. AU - You, Li. AU - Qin, Yingying. AU - Zhao, Xiaoming. AU - Lin, Xiaoling. AU - Li, Xiao. AU - Feng, Junjie. AU - Wang, Li. AU - Trent, Jeffrey M.. AU - Xu, Chengyan. AU - Gao, Ying. AU - Zhang, Bo. AU - Gao, Xuan. AU - Hu, Jingmei. AU - Chen, Hong. AU - Li, Guangyu. AU - Zhao, Junzhao. AU - Zou, Shuhua. AU - Jiang, Hong. AU - Hao, Cuifang. AU - Zhao, Yueran. AU - Ma, Jinglong. AU - Zheng, S. Lilly. AU - Chen, Zi Jiang. PY - 2012/5/4. Y1 - 2012/5/4. N2 - A genome-wide association study of Han Chinese subjects was conducted to identify genetic susceptibility loci for nonobstructive azoospermia (NOA). In the discovery stage, 802 azoospermia cases and 1,863 controls were ...
Montserrat Garcia-Closas and colleagues report a genome-wide association study for bladder cancer. They identify three new susceptibility loci on chromosomes 22q13.1, 19q12 and 2q37.1. We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10−12) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10−11) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10−7) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10
We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium and 8,514 UK population controls across 196,524 variants within 186 known autoimmune risk loci. We identified 3 loci newly associated with PBC (at P|5×10(-8)), increasing the number of known susceptibility loci to 25. The most associated variant at 19p12 is a low-frequency nonsynonymous SNP in TYK2, further implicating JAK-STAT and cytokine signaling in disease pathogenesis. An additional five loci contained nonsynonymous variants in high linkage disequilibrium (LD; r2|0.8) with the most associated variant at the locus. We found multiple independent common, low-frequency and rare variant association signals at five loci. Of the 26 independent non-human leukocyte antigen (HLA) signals tagged on the Immunochip, 15 have SNPs in B-lymphoblastoid open chromatin regions in high LD (r2|0.8) with the most associated variant. This study shows how data from dense fine-mapping arrays coupled with functional genomic data can be
The oval squid Sepioteuthis lessoniana is one of the most economically important squid species in Japan; however, its population structure is poorly understood due to the lack of hypervariable markers. Such information is critical for managing sustainable fisheries, as well as for ensuring the existence of wild S. lessoniana stocks. Eleven candidate microsatellite loci were isolated from a small insert genomic DNA library. Polymorphisms in these 11 loci were screened in 24 wild individuals. The number of alleles per locus was found to range from 5 to 19 alleles, and the observed heterozygosity ranged from 0.292 to 0.958. No evidence for linkage disequilibrium was detected among all the loci. The genotypic proportions conformed to Hardy-Weinberg equilibrium, except at one locus. In conclusion, these polymorphic microsatellite loci may be used to develop a genetic framework to manage S. lessoniana in the future.
Indians undergoing socioeconomic and lifestyle transitions will be maximally affected by epidemic of type 2 diabetes (T2D). We conducted a two-stage genome-wide association study of T2D in 12,535 Indians, a less explored but high-risk group. We identified a new type 2 diabetes-associated locus at 2q21, with the lead signal being rs6723108 (odds ratio 1.31; P = 3.32 × 10−9). Imputation analysis refined the signal to rs998451 (odds ratio 1.56; P = 6.3 × 10−12) within TMEM163 that encodes a probable vesicular transporter in nerve terminals. TMEM163 variants also showed association with decreased fasting plasma insulin and homeostatic model assessment of insulin resistance, indicating a plausible effect through impaired insulin secretion. The 2q21 region also harbors RAB3GAP1 and ACMSD; those are involved in neurologic disorders. Forty-nine of 56 previously reported signals showed consistency in direction with similar effect sizes in Indians and previous studies, and 25 of them were also ...
CiteSeerX - Document Details (Isaac Councill, Lee Giles, Pradeep Teregowda): Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial public health impact. We conducted a multi-stage genome-wide association study (GWAS) for schizophrenia beginning with a Swedish national sample (5,00 cases and 6,243 controls) followed by meta-analysis with previous schizophrenia GWAS (8,832 cases and 2,067 controls) and finally by replication of SNPs in 68 genomic regions in independent samples (7,43 cases, 9,762 controls and 58 parent-offspring trios). We identified 22 loci associated at genome-wide significance; 3 of these are new, and was previously implicated in bipolar disorder. Examination of candidate genes at these loci suggests the involvement of neuronal calcium signaling. We estimate that 8,300 independent, mostly common SNPs (95% credible interval of 6,300-0,200 SNPs) contribute to risk for schizophrenia and that these collectively account for at least 32% of the variance
Purpose: Refractive error is the most common eye disorder worldwide, and a prominent cause of blindness. Myopia affects over 30% of Caucasian populations, and up to 80% of Asians. We aimed to identify multiple genetic loci that explain the genetic architecture of refractive error.. Methods: The Consortium for Refractive Error and Myopia (CREAM) conducted genome-wide meta-analyses including 37,382 individuals from 27 Caucasian studies, and 8,376 from 5 Asian cohorts. Identified variants were used for genetic risk score assessment.. Results: We identified 16 new loci for refractive error in Caucasians, of which 10 were shared with Asians. Combined analysis revealed 8 additional new loci. The new loci include genes with function in neurotransmission (GRIA4), ion channels (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2, BMP2), and eye development (SIX6, PRSS56). We also confirmed previously reported associations with GJD2 (top SNP rs524952; Pcombined=1.44x10-15) and ...
Image_6_Genome-Wide Association Studies Reveal Genomic Regions Associated With the Response of Wheat (Triticum aestivum L.) to Mycorrhizae Under Drought Stress Conditions.pdf
Seagrasses are one of the most productive and economically important habitats in the coastal zone, but they are disappearing at an alarming rate, with more than half the worlds seagrass area lost since the 1990s. They now face serious threat from climate change, and there is much current speculation over whether they will survive the coming decades. The future of seagrasses depends on their ability to recover and adapt to environmental change-i.e. their resilience. Key to this, is understanding the role that genetic diversity plays in the resilience of this highly clonal group of species. To investigate population structure, genetic diversity, mating system (sexual versus asexual reproduction) and patterns of connectivity, we isolated and characterised 23 microsatellite loci using next generation sequencing for the Australian seagrass species, Zostera muelleri (syn. Z. capricorni), which is regarded as a globally significant congeneric species. Loci were tested for levels of variation based ...
An experimental procedure using biotin-labelled probes and streptavidin-bound magnetic beads (FIASCO) was used to produce a microsatellite-enriched library for the collembolan Orchesella villosa. PCR primers were successfully constructed for seven loci containing, respectively, five pure, one interrupted, and one compound dinucleotide microsatellite repeats. As a preliminary test of their variability, we investigated 15 individuals from 5 locations inside a dismissed mining area in southern Tuscany. All microsatellite loci showed high levels of polymorphism. The mean number of different alleles at each locus across populations was 10.1 and observed heterozygosity per locus was 0.13-0.86. Only 2 out of the 7 loci appeared to be in Hardy-Weinberg equilibrium. The potential application of these loci to test the effects of environmental contamination on the genetic structure of exposed populations is discussed.. ...
More than 20 genetic loci have been associated with risk for Alzheimers disease (AD), but reported genome-wide significant loci do not account for all the estimated heritability and provide little information about underlying biological mechanisms. Genetic studies using intermediate quantitative traits such as biomarkers, or endophenotypes, benefit from increased statistical power to identify variants that may not pass the stringent multiple test correction in case-control studies. Endophenotypes also contain additional information helpful for identifying variants and genes associated with other aspects of disease, such as rate of progression or onset, and provide context to interpret the results from genome-wide association studies (GWAS). We conducted GWAS of amyloid beta (Aβ42), tau, and phosphorylated tau (ptau181) levels in cerebrospinal fluid (CSF) from 3146 participants across nine studies to identify novel variants associated with AD. Five genome-wide significant loci (two novel) were ...
The genome-wide association study (GWAS) publications listed here include a primary GWAS analysis, defined as array-based genotyping and analysis of 100,000+ pre-QC SNPs selected to tag variation across the genome and without regard to gene content. GWAS data from published studies which are incorporated into new GWAS analyses are eligible, provided they meet the other criteria. Studies imputing sequencing data to genotyping arrays are eligible as long as the arrays include sufficient genome-wide coverage so that the post-imputation analysis meets the definition of a GWAS analysis, as described above. Customized gene-based arrays without a clearly described GWAS backbone, including those selected to replicate published GWAS findings (e.g., Metabochip, Immunochip, etc.) are not eligible. Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies are identified through weekly PubMed literature searches, daily NIH-distributed ...
The genome-wide association study (GWAS) publications listed here include a primary GWAS analysis, defined as array-based genotyping and analysis of 100,000+ pre-QC SNPs selected to tag variation across the genome and without regard to gene content. GWAS data from published studies which are incorporated into new GWAS analyses are eligible, provided they meet the other criteria. Studies imputing sequencing data to genotyping arrays are eligible as long as the arrays include sufficient genome-wide coverage so that the post-imputation analysis meets the definition of a GWAS analysis, as described above. Customized gene-based arrays without a clearly described GWAS backbone, including those selected to replicate published GWAS findings (e.g., Metabochip, Immunochip, etc.) are not eligible. Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies are identified through weekly PubMed literature searches, daily NIH-distributed ...
Candidate gene and genome-wide association studies (GWAS) have identified 15 independent genomic regions associated with bladder cancer risk. In search for additional susceptibility variants, we followed up on four promising single-nucleotide polymorphisms (SNPs) that had not achieved genome-wide significance in 6911 cases and 11 814 controls (rs6104690, rs4510656, rs5003154 and rs4907479, P | 1 × 10(-6)), using additional data from existing GWAS datasets and targeted genotyping for studies that did not have GWAS data. In a combined analysis, which included data on up to 15 058 cases and 286 270 controls, two SNPs achieved genome-wide statistical significance: rs6104690 in a gene desert at 20p12.2 (P = 2.19 × 10(-11)) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 × 10(-10)). Imputation and fine-mapping analyses were performed in these two regions for a subset of 5551 bladder cancer cases and 10 242 controls. Analyses at the 13q34 region suggest a single signal marked by rs4907479. In contrast
The shrimp Nematocarcinus lanceopes Bate, 1888 is found in the deep sea around Antarctica and sub-Antarctic islands. Previous studies on mitochondrial data and species distribution models provided evidence for a homogenous circum-Antarctic population of N. lanceopes. However, to analyze the fine-scale population genetic structure and to examine influences of abiotic environmental conditions on population composition and genetic diversity, a set of fast evolving nuclear microsatellite markers is required. We report the isolation and characterization of nine polymorphic microsatellite markers from the Antarctic deep-sea shrimp species Nematocarcinus lanceopes (Crustacea: Decapoda: Caridea). Microsatellite markers were screened in 55 individuals from different locations around the Antarctic continent. All markers were polymorphic with 9 to 25 alleles per locus. The observed heterozygosity ranged from 0.545 to 0.927 and the expected heterozygosity from 0.549 to 0.934. The reported markers provide a novel
The SSR enriched library was constructed from the genotype TMV2 following by modified method of Fischer and Bachmann [23]. This library was enriched for CA and CT SSR repeat motifs. From this library, 3,072 clones were picked from 32 96-well plates. Hybridization of these clones with digoxigenin-labeled SSR probes (CA and CT) provided 720 (23.4%) putatively positive clones. Sequencing of these clones indicated the insert size in the range of 50 bp to 792 bp with an average size of 309 bp. Majority of clones (43.9%) contained the insert of moderate size (200 bp-400 bp) while 34.6% clones contained small inserts (50 bp-200 bp) and 21.5% clones contained inserts of , 500 bp.. Analysis of sequence data mentioned above with Tandem Repeat Finder (TRF) had 490 (68%) clones which contained one or more SSRs. The efficiency of the enrichment procedure for the constructed library was higher as compared to other SSR isolation studies of groundnut. Like the present study, 61% of clones were found to contain ...
Thirteen new microsatellite loci were isolated and tested on two land snail species, Trochulus villosus and T. sericeus (Pulmonata: Hygromiidae), resulting in a set of eight polymorphic markers for each species. The expected heterozygosity was high for all loci and species (between 0.616 and 0.944). Such levels of variability will allow detailed insights into the population genetic structure of some Trochulus species.
Only two genome-wide significant loci associated with longevity have been identified so far, probably because of insufficient sample sizes of centenarians, whose genomes may harbor genetic variants associated with health and longevity. Here we report a genome-wide association study (GWAS) of Han Chinese with a sample size 2.7 times the largest previously published GWAS on centenarians. We identified 11 independent loci associated with longevity replicated in Southern-Northern regions of China, including two novel loci (rs2069837-IL6; rs2440012-ANKRD20A9P) with genome-wide significance and the rest with suggestive significance (P | 3.65 × 10−5). Eight independent SNPs overlapped across Han Chinese, European and U.S. populations, and APOE and 5q33.3 were replicated as longevity loci. Integrated analysis indicates four pathways (starch, sucrose and xenobiotic metabolism; immune response and inflammation; MAPK; calcium signaling) highly associated with longevity (P ≤ 0.006) in Han Chinese. The
Microsatellite markers from a transcriptome sequence library were initially isolated, and their genetic variation was characterized in a wild population of the mud crab (Scylla paramamosain). We then tested the association between these microsatellite markers and the growth performance of S. paramamosain. A total of 129 polymorphic microsatellite markers were identified, with an observed heterozygosity ranging from 0.19 to 1.00 per locus, an expected heterozygosity ranging from 0.23 to 0.96 per locus, and a polymorphism information content (PIC) ranging from 0.21 to 0.95 per locus. Of these microsatellite markers, 30 showed polymorphism in 96 full-sib individuals of a first generation family. Statistical analysis indicated that three microsatellite markers were significantly associated with 12 growth traits of S. paramamosain. Of these three markers, locus Scpa36 was significantly associated with eight growth traits, namely, carapace length, abdomen width (AW), body height (BH), fixed finger length of
Through genome-wide association meta-analyses of up to 133,010 individuals of European ancestry without diabetes, including individuals newly genotyped using the Metabochip, we have increased the number of confirmed loci influencing glycemic traits to 53, of which 33 also increase type 2 diabetes risk (q , 0.05). Loci influencing fasting insulin concentration showed association with lipid levels and fat distribution, suggesting impact on insulin resistance. Gene-based analyses identified further biologically plausible loci, suggesting that additional loci beyond those reaching genome-wide significance are likely to represent real associations. This conclusion is supported by an excess of directionally consistent and nominally significant signals between discovery and follow-up studies. Functional analysis of these newly discovered loci will further improve our understanding of glycemic control ...
Most genome-wide association studies have been of European individuals, even though most genetic variation in humans is seen only in non-European samples. To search for novel loci associated with blood lipid levels and clarify the mechanism of action at previously identified lipid loci, we used an exome array to examine protein-coding genetic variants in 47,532 East Asian individuals. We identified 255 variants at 41 loci that reached chip-wide significance, including 3 novel loci and 14 East Asian-specific coding variant associations. After a meta-analysis including >300,000 European samples, we identified an additional nine novel loci. Sixteen genes were identified by protein-altering variants in both East Asians and Europeans, and thus are likely to be functional genes. Our data demonstrate that most of the low-frequency or rare coding variants associated with lipids are population specific, and that examining genomic data across diverse ancestries may facilitate the identification of ...
Author Summary We conducted a large genome-wide association study (GWAS) of Parkinsons disease (PD) with over 3,400 cases and 29,000 controls (the largest single PD GWAS cohort to date). We report two novel genetic associations and replicate a total of twenty previously described associations, showing that there are now many solid genetic factors underlying PD. We also estimate that genetic factors explain at least one-fourth of the variation in PD liability, of which currently discovered factors only explain a small fraction (6%-7%). Together, these results expand the set of genetic factors discovered to date and imply that many more associations remain to be found. Unlike traditional studies, participation in this study took place completely online, using a collection of cases recruited primarily via PD mailing lists and controls derived from the customer base of the personal genetics company 23andMe. Our study thus illustrates the ability of web-based methods for enrollment and data collection to
The vast majority of breast cancer-associated variants identified by genome-wide association studies (GWAS) are located to non-protein coding genomic regions. Although some have been shown to regulate the expression of specific genes, novel approaches to elucidate the in vivo mechanisms underlying such breast cancer susceptibility loci are needed. The gene desert located on human chromosomal band 8q24, proximal to MYC and PVT1, and distal to FAM84B, harbors 2 common, low-penetrance breast cancer variants. We generated a megadeletion mouse model lacking 430 Kb of sequence orthologous to the breast cancer-associated locus of the 8q24 gene desert. Homozygous megadeletion mice are viable, fertile, lactate sufficiently to nourish their pups, but maintain a 10% lower body weight mainly due to decreased adiposity. We found that the mutation altered mammary gland development, resulting in less branch points, terminal end buds and altered luminal/basal ratio. Using a reciprocal mammary gland ...
Access to high-quality and safe food is a basic need in our community and, consequently, the European Union has defined maximum residue levels (MRLs) for a number of antibacterial compounds. However, despite the obvious demand for quantitative multi-residue detection methods that can be carried out on a rout
With the detailed genomic information that is now becoming available, we have a plethora of data that allows researchers to address questions in a variety of areas. Genome-wide association studies (GWAS) have become a vital approach to identify candidate regions associated with complex diseases in
The present study deals with the assessment of genetic diversity using microsatellite marker in the fish Labeo gonius from Nanak Sagar and Dhaura reservoirs of Uttarakhand having different morpho-edhaphic features and self- recruiting populations of this fish. These reservoirs are distantly located and distinctly separated without any connection having negligible possibility of gene exchange with each other. Total 12 cross amplified microsatellite primers after using software Primer-BLAST and Primer-3 were screened in all 100 DNA samples of fish collected from both the reservoirs. 12 cross amplified microsatellite primers were screened and successfully amplified. After PCR amplification of microsatellite loci and performing native PAGE using amplified DNA samples as above, POP GENE Version 1.32 was used to calculate Neis observed heterozygosity, expected heterozygosity, Neis genetic diversity, Fixation index (Fis) and Shannons information index (SI) and genetic variability indices viz. Gene flow(Nm),
Skol, A. D., Scott, L. J., Abecasis, G. R. and Boehnke, M. (2007), Optimal designs for two-stage genome-wide association studies. Genet. Epidemiol., 31: 776-788. doi: 10.1002/gepi.20240 ...
The igvR package provides easy programmic access in R to the web-based javascript library igv.js in order to create and display genome tracks in its richly interactive web browser visual interface. I am grateful to Jim Robinson, Douglass Turner and colleagues for their fine work.. We introduce igvR via a case study of genetic variants associated with Alzheimers Disease as described in the 2014 Nature Genetics paper. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimers disease1. Theses 11 loci bring the total susceptibility loci count to 20, of which MEF2C is one. We focus on a 1 megabase region surrounding the MEF2C gene which contains 208 variants whose presence is associated with the expression of MEF2C in 17,008 Alzheimers disease cases and 37,154 controls. Interestingly, these variants do not occur in coding regions of the gene. Some possible insight into their function - of a highly speculative and preliminary sort - is provided by this case study. We ...
SHETE, SANJAY... A Genome-Wide Association Study Identifies Two Novel Susceptible Regions for Squamous Cell Carcinoma of the Head and Neck. Cancer Research 80 n.12 p. 2451-2460 JUN 15 2020. Journal article.
Genome-wide meta-analyses of breast, ovarian, and prostate cancer association studies identify multiple new susceptibility loci shared by at least two cancer types
Zeng, C., Guo, X., Long, J., Kuchenbaecker, K.B., Droit, A., Michailidou, K., Ghoussaini, M., Kar, S., Freeman, A., Hopper, J.L., Milne, R.L., Bolla, M.K., Wang, Q., Dennis, J., Agata, S., Ahmed, S., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Arun, B.K., Arver, B., Bacot, F., Barrowdale, D., Baynes, C., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Blomqvist, C., Blot, W.J., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.-L., Brand, J.S., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldes, T., Campbell, I., Carpenter, J., Chang-Claude, J., Choi, J.Y., Claes, K.B.M., Clarke, C., Cox, A., Cross, S.S., Czene, K., Daly, M.B., de la Hoya, M., De Leeneer, K., Devilee, P., Diez, O., Domchek, S.M., Doody, M.M., Dorfling, C.M., Dörk, T., Dos Santos Silva, I., Dumont, M., Dwek, M., Dworniczak, B., Egan, K.M., Eilber, U., Einbeigi, Z., Ejlertsen, B., Ellis, S., Frost, D., Lalloo, F., ...
Authors: Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, ...
Chauhan G., Arnold CR., Chu AY., Fornage M., Reyahi A., Bis JC., Havulinna AS., Sargurupremraj M., Smith AV., Adams HHH., Choi SH., Pulit SL., Trompet S., Garcia ME., Manichaikul A., Teumer A., Gustafsson S., Bartz TM., Bellenguez C., Vidal JS., Jian X., Kjartansson O., Wiggins KL., Satizabal CL., Xue F., Ripatti S., Liu Y., Deelen J., den Hoed M., Bevan S., Hopewell JC., Malik R., Heckbert SR., Rice K., Smith NL., Levi C., Sharma P., Sudlow CLM., Nik AM., Cole JW., Schmidt R., Meschia J., Thijs V., Lindgren A., Melander O., Grewal RP., Sacco RL., Rundek T., Rothwell PM., Arnett DK., Jern C., Johnson JA., Benavente OR., Wassertheil-Smoller S., Lee J-M., Wong Q., Aparicio HJ., Engelter ST., Kloss M., Leys D., Pezzini A., Buring JE., Ridker PM., Berr C., Dartigues J-F., Hamsten A., Magnusson PK., Traylor M., Pedersen NL., Lannfelt L., Lindgren L., Lindgren CM., Morris AP., Jimenez-Conde J., Montaner J., Radmanesh F., Slowik A., Woo D., Hofman A., Koudstaal PJ., Portegies MLP., Uitterlinden AG., de ...
A genome-wide association study on hundreds of thousands of women with or without breast cancer implicated 32 new risk loci, including sites associated with specific subtypes.
Non-coding RNAs constitute almost 98% of the human genome. Long non-coding RNA (lnc RNA) is a large class of this family where the RNA sequences are more than 200 nucleotides long and do not encode for proteins.
TY - JOUR. T1 - IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes. AU - Momozawa, Yukihide. AU - Dmitrieva, Julia. AU - Theatre, Emilie. AU - Deffontaine, Valerie. AU - Rahmouni, Souad. AU - Charloteaux, Benoit. AU - Crins, Francois. AU - Docampo, Elisa. AU - Elansary, Mahmoud. AU - Gori, Ann-Stephan. AU - Lecut, Christelle. AU - Mariman, Rob. AU - Mni, Myriam. AU - Oury, Cecile. AU - Altukhov, Ilya. AU - Alexeev, Dmitry. AU - Aulchenko, Yuri. AU - Amininejad, Leila. AU - Bouma, Gerd. AU - Hoentjen, Frank. AU - Lowenberg, Mark. AU - Oldenburg, Bas. AU - Pierik, Marieke J.. AU - vander Meulen-de Jong, Andrea E.. AU - van der Woude, C. Janneke. AU - Visschedijk, Marijn C.. AU - Lathrop, Mark. AU - Hugot, Jean-Pierre. AU - Weersma, Rinse K.. AU - De Vos, Martine. AU - Franchimont, Denis. AU - Vermeire, Severine. AU - Kubo, Michiaki. AU - Louis, Edouard. AU - Georges, Michel. AU - Abraham, Clara. AU - Achkar, Jean-Paul. AU - Ahmad, Tariq. AU - ...
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Define locus of control. locus of control synonyms, locus of control pronunciation, locus of control translation, English dictionary definition of locus of control. n. pl. lo·ci 1. A locality; a place. 2. A center or focus of great activity or intense concentration: the cunning exploitation of loci of power; the...
Eesti Teadusinfosüsteem koondab informatsiooni teadus- ja arendusasutuste, teadlaste, teadusprojektide ning erinevate teadustegevuste tulemuste kohta.
Other genetic[edit]. OMIM Name Locus Gene 609638 epidermolysis bullosa, lethal acantholytic 6p24 DSP ... List of genetic disorders. References[edit]. *^ a b c d e f g h i j k "Epidermolysis bullosa". rarediseases.info.nih.gov. ... Epidermolysis bullosa (EB) is a group of genetic conditions that result in easy blistering of the skin and mucous membranes.[1] ... Skin biopsy, genetic testing[5]. Differential diagnosis. Bullous pemphigoid, pemphigus vulgaris, friction blisters, insect ...
Genetic forms of localized autosomal recessive hypotrichosis include: Type OMIM Gene Locus ... Many types of thinning have an underlying genetic or health-related cause, which a qualified professional will be able to ...
"Feline Genetic Loci Table , Cat-World". 4 August 2017. Archived from the original on 15 June 2006. CS1 maint: discouraged ... Regardless of the genetic and historical reality, there are various fanciful Lamarckian folktales that seek to explain why the ... More will be clear about tail genetics as more genetic studies are done on cat populations and as DNA testing improves; most ... In 2013, prior to initiation of the Manx Cat Genome Project (below), genetic mutations in the brachyury gene were shown to be ...
Genetic associations for selective tooth agenesis ("STHAG") include: Type OMIM Gene Locus ... Nieminen P (June 2009). "Genetic basis of tooth agenesis". Journal of Experimental Zoology. Part B, Molecular and Developmental ... Genetic causes also involve the genes MSX1 and PAX9.[32][33] ... Among the possible causes are mentioned genetic, hormonal, ... Hypodontia is often familial, and can also be associated with genetic disorders such as ectodermal dysplasia or Down syndrome. ...
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. doi:10.1038/nature13595. ISSN ... Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M (Sep 2009). "The genetic basis ... Large-scale genetic analyses have shown the possibility that CACNA1C is associated with bipolar disorder [21] and subsequently ...
... by quantifying the total contribution of common genetic variants. Furthermore an increasing number of specific genetic loci are ... "Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. doi:10.1038/nature13595. PMC ... These studies began in the 70's and studied the impact of perinatal problems, genetic variants, sexual abuse and other adverse ... Twin studies estimate the influences of all genetic variants and effects, but, due to relying purely on relatedness information ...
With the discovery of causative genes, genetic sequencing can also be used to verify diagnosis (though not all genetic loci are ... Three genetic loci for FHM are known. FHM1, which accounts for about 50% of FHM patients, is caused by mutations in a gene ... The final known locus FHM3 is the SCN1A gene, which encodes a sodium channel α subunit. The only study so far that has found ... These three subtypes do not account for all cases of FHM, suggesting the existence of at least one other locus (FHM4). Also, ...
"THE LOCI OF EVOLUTION: HOW PREDICTABLE IS GENETIC EVOLUTION?". Evolution. 62 (9): 2155-2177. doi:10.1111/j.1558-5646.2008. ... Gompel, Nicolas; Prud'homme, Benjamin (August 2009). "The causes of repeated genetic evolution". Developmental Biology. 332 (1 ... "Is Genetic Evolution Predictable?". Science. 323 (5915): 746-751. doi:10.1126/science.1158997. PMC 3184636. PMID 19197055.. ...
Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014 Jul 24;511(7510):421-7. doi: 10.1038/ ... Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014 Jul 24;511(7510):421-7. doi: 10.1038/ ... The center later launched efforts to collect and sequence genetic samples for such conditions as bipolar disorder, autism ... that identified over 100 regions in the human genome associated with schizophrenia through the genetic analysis of 110,000 ...
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. doi:10.1038/nature13595. ISSN ...
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. doi:10.1038/nature13595. ISSN ... Large-scale genetic analyses have shown the possibility that CACNA1C is associated with bipolar disorder and subsequently also ... "The genetic basis of Brugada syndrome: a mutation update". Human Mutation. 30 (9): 1256-66. doi:10.1002/humu.21066. PMID ...
Bennett, Dorothy C.; M. Lynn Lamoreux (August 2003). "The Color Loci of Mice - A Genetic Century". Pigment Cell Research. 16 (4 ... Genetic science in the 1970s could not provide a clear answer, as methods of molecular analysis had not yet been developed. The ... The progressive loss of colour in the hair of grey horses is controlled by a dominantly inherited allele at the Grey locus (G^G ... Andersson, L; Sandberg, K (Mar-Apr 1982). "A linkage group composed of three coat color genes and three serum protein loci in ...
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. doi:10.1038/nature13595. PMC ... "Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. doi:10.1038/nature13595. ISSN ... He moved back to London as successor to Prof Sir Michael Rutter as Director of the MRC Social, Genetic and Developmental ... He completed a PhD with a thesis describing one of the first multi marker genetic linkage studies in schizophrenia. He ...
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. doi:10.1038/nature13595. ISSN ... The genetic basis of chronic pain. Darvasi, in collaboration with Marshall Devor, studied the genetic basis of chronic pain. ... The Genetic basis of schizophrenia. Adopting experimental strategies he developed, Darvasi discovered one of the strongest ... Along with teaching and research, Darvasi also founded IDgene, a biotechnology company that studied the genetic basis of common ...
He was lead author of a 2014 study in Nature which identified over 100 genetic loci associated with an increased risk of ... "Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. Bibcode:2014Natur.511..421S. ... Borenstein, Seth (2014-07-22). "Genetic mapping triggers new hope on schizophrenia". The News-Herald. Retrieved 2018-12-14. ... O'Donovan, Michael (2015-08-05). "Novel genetic advances in schizophrenia: an interview with Michael O'Donovan". BMC Medicine. ...
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-7. Bibcode:2014Natur.511..421S. ... The largest meta-analysis on copy-number variations (CNVs), structural abnormalities in the form of genetic deletions or ... Oxidative stress has also been indicated through genetic studies into schizophrenia. Oxidative stress has been shown to affect ... Stedehouder J, Kushner SA (January 2017). "Myelination of parvalbumin interneurons: a parsimonious locus of pathophysiological ...
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-7. doi:10.1038/nature13595. PMC ... June 2013). "Genetic association, mutation screening, and functional analysis of a Kozak sequence variant in the metabotropic ...
It was discovered in 1965 that a strain of C3H/HeJ mice were immune to the endotoxin-induced shock.[110] The genetic locus for ... September 1998). "Genetic and physical mapping of the Lps locus: Identification of the toll-4 receptor as a candidate gene in ... Genetic mapping work, performed over a period of five years, showed that TLR4 was the sole candidate locus within the Lps ... January 1980). "Genetic control of susceptibility to Salmonella typhimurium in mice: Role of the LPS gene". Journal of ...
Stern, D.L.; Orgogozo, V. (2008). "The Loci of Evolution: How Predictable is Genetic Evolution?". Evolution. 62 (9): 2155-2177 ... The M-matrix describes the potential effects of new mutations on the existing genetic variances and covariances, and these ... These strategically-positioned genes have the potential to filter random genetic variation and translate it to nonrandom ... Schluter, Dolph (1996). "Adaptive Radiation Along Genetic Lines of Least Resistance". Evolution. 50 (5): 1766-1774. doi:10.2307 ...
... increasing its number of genetic loci to five risk loci across the genome. About 200,000 genetic variants were genotyped in two ... and the intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)). The genetic susceptibility locus in ... A fifth genetic locus for the disease in an intergenic region on chromosome 21q22 downstream of PSMG1 was revealed (P=4.39X10-7 ... a genetic association was identified and confirmed between Takayasu's arteritis and the FCGR2A/FCGR3A locus on chromosome 1 ( ...
2010). "A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in ... 2009). Marchini J (ed.). "Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis ... "Identification of 12 genetic loci associated with human healthspan". Commun. Biol. 2: 41. doi:10.1038/s42003-019-0290-0. PMC ... CDKN2B-AS, also known as ANRIL (antisense non-coding RNA in the INK4 locus) is a long non-coding RNA consisting of 19 exons, ...
2014). "Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. Bibcode:2014Natur.511 ... Experimental and quasi-experimental behavioral genetic research uses genetic methodologies to disentangle this confound and ... In contrast, human environments and genetic backgrounds vary so widely, and depend upon so many factors, that it is difficult ... One major result of genetic association studies is the general finding that psychological traits and psychopathology, as well ...
Genetic Testing. 4 (2): 207-212. doi:10.1089/10906570050114920. PMID 10953961. James E. Bowman (Autumn 2001). "Genetic Medicine ... ISBN 978-0-8018-5884-0. James E. Bowman (1983). Distribution and Evolution of Hemoglobin and Globin Loci. Proceedings of the ... Bowman published numerous articles and books, including: Books James E. Bowman; Robert F. Murray (1998). Genetic Variation and ... Shaw, Richard F.; Ruth Winter Bloom; James E. Bowman (September 1977). "Hemoglobin and the genetic code: Evolution of ...
There is evidence of genetic risk of SPS. The HLA class II locus makes patients susceptible to the condition. Most SPS patients ...
"Genetic variability at the PARK16 locus". European Journal of Human Genetics. 18 (12): 1356-1359. doi:10.1038/ejhg.2010.125. ...
500000-599999: Mitochondrial loci or phenotypes. *600000 and above: Autosomal loci or phenotypes (entries created after May 15 ... Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, ... A Catalog of Human Genes and Genetic Disorders. Baltimore, MD: Johns Hopkins University Press, 11th ed, 1994; 12th ed, 1998. ... "Hemoglobin beta locus or HBB (141900): Allelic variants". Online Mendelian Inheritance in Man. Baltimore, MD: McKusick-Nathans ...
2014). "Biological insights from 108 schizophrenia-associated genetic loci" (PDF). Nature. 511 (7510): 421-7. Bibcode:2014Natur ... Several studies have suggested a genetic overlap and possible genetic correlation between schizophrenia and other psychiatric ... indicating 108 schizophrenia-associated genetic loci, of which 83 have not been previously described. Together, these candidate ... The combination of genetic and environmental factors leads to deficits in the neural circuits that affect sensory input and ...
"Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci". Nat. Genet. 27 (4): 372-3. doi:10.1038/86867 ...
While schizophrenia is widely believed to be multifactorially genetic by biopsychiatrists, no characteristic genetic markers ... DNA locus associated with variation in a quantitative trait. A quantitative trait locus (QTL) is a locus (section of DNA) that ... For example, they may be interested in knowing whether a phenotype is shaped by many independent loci, or by a few loci, and do ... then there is a strong chance that the disease is genetic[citation needed] and that the patient will also be a genetic carrier ...
Lang, M.A. and Nebert, D.W. (1981). "Structural gene products of the Ah locus. Evidence for many unique P-450-mediated ... Lang, M.A., Gielen, J.E. and Nebert, D.W. (1981). "Genetic evidence for many unique liver microsomal P-450-mediated ...
There is a school of thought that believes that there are different genetic loci for different ethnicities for the same ... a b Croner S (1992). "Prediction and detection of allergy development: influence of genetic and environmental factors". J. ... Barnes KC, Grant AV, Hansel NN, Gao P, Dunston GM (2007). "African Americans with asthma: genetic insights". Proc Am Thorac Soc ... Moreover, there is increasing evidence that, despite a range of genetic risks for addiction across the population, exposure to ...
Matching is performed on the basis of variability at three or more loci of the HLA gene, and a perfect match at these loci is ... Δ32 homozygous individual with two genetic copies of a rare variant of a cell surface receptor. This genetic trait confers ... In addition, a genetic mismatch as small as a single DNA base pair is significant so perfect matches require knowledge of the ... G-CSF has also been described to induce genetic changes in mononuclear cells of normal donors.[44] There is evidence that ...
In cultured mammalian cells, such as the Chinese hamster ovary cell line, a number of genetic loci are present in a functional ... at the target locus. Expected. H. e. =. 1. −. ∑. i. =. 1. m. (. f. i. ). 2. {\displaystyle H_{e}=1-\sum \limits _{i=1}^{m}{(f_{ ... As discussed above, "zygosity" can be used in the context of a specific genetic locus (example[5]). In addition, the word " ... is the number of alleles at the target locus, and f. i. {\displaystyle f_{i}}. is the allele frequency of the i. t. h. {\ ...
The genetic network logic responds to signals received from the environment and from internal cell status sensors to adapt the ... and insertion/deletion polymorphisms at five chromosomal loci.[6] C. crescentus is synonymous with Caulobacter vibrioides.[1] ... The central feature of the cell cycle regulation is a cyclical genetic circuit-a cell cycle engine-that is centered around the ... The genetic basis of the phenotypic differences between the two strains results from coding, regulatory, ...
... extend from HLA-A1 locus to DQ2 locus. This compares with 25% of Cw7-B7 that extend to A3::DQ6 [4] Of 25 potential genetic ... genetic) linkage between A1 and B1, this was extended to Cw7 locus.[6] ... Linkage could not be extended to HLA-DPB1 locus.[34] Outside of Europe the DRB1*0301 and DR3-DQ2 loci have been linked to ... In these studies link with B8 was greater than DR3, so that susceptibility moves from class II to Class III or Class I loci.[3] ...
"Genetic Evaluation Results". Archived from the original on August 27, 2001.. *^ S1008: Genetic Selection and Crossbreeding to ... A measure of inbreeding of an individual A is the probability F(A) that both alleles in one locus are derived from the same ... "Genetic diversity and population genetic structure in the South American sea lion (Otaria flavescens)" (PDF). Department of ... There are genetic assays being scheduled for lions to determine their genetic diversity. The preliminary studies show results ...
The locus affects the expressed trait only through changing the expression of other loci. Over time, that locus would affect ... Pleiotropy describes the genetic effect of a single gene on multiple phenotypic traits. The underlying mechanism is genes that ... Sickle cell anemia is a genetic disease that causes deformed red blood cells with a rigid, crescent shape instead of the normal ... "Genuine" pleiotropy is when two distinct primary products arise from one locus. "Spurious" pleiotropy, on the other hand, is ...
Locus-specific probes are made for one side of the breakpoint and the other intact chromosome. In normal cells, the secondary ... FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification.[2] ... Special locus-specific probe mixtures are often used to count chromosomes, by binding to the centromeric regions of chromosomes ... However, it is possible to create a mixture of smaller probes that are specific to a particular region (locus) of DNA; these ...
"Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome". Movement Disorders 21 (1 ... 2007). "A Genetic Risk Factor for Periodic Limb Movements in Sleep". New England Journal of Medicine 357 (7): 639-47. doi: ...
1992). "A Platform for Evolving Genetic Automata for Text Segmentation (GNATS)". Science of Artificial Neural Networks. Science ... it is plausible that the central loci of our responsibility are our choices, or "willings".. ... and desires are fixed by our genetic endowment and our biochemical makeup, the latter of which is affected by both genes and ... it is not certain that environmental determination is any less threatening to free will than genetic determination.[164] ...
1999). "Evidence for an interaction between adducin and Na(+)-K(+)-ATPase: relation to genetic hypertension". Am. J. Physiol. ... "Transcript map of the human chromosome 4p16.3 consisting of 627 cDNA clones derived from 1 Mb of the Huntington's disease locus ...
"Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... These rare genetic variants are autosomal dominant.[26] Cancer[edit]. In addition to its role in Alzheimer's disease, ...
Detailed genetic and physiological studies on these foxes have been done by Trut and colleagues. For example, the "star-shaped ... "Mapping loci for fox domestication: deconstruction/reconstruction of a behavioral phenotype". Behavior Genetics. 41: 593-606.. ... "A marker set for construction of a genetic map of the silver fox (Vulpes vulpes)". Journal of Heredity. 95: 185-194.. ... is associated with at least two loci.[12] ...
For cytogenetic banding nomenclature, see article locus. *^ a b These values (ISCN start/stop) are based on the length of bands ... Maillard, A M (25 November 2014). "The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity". ...
Genetic engineering[edit]. TATA box modification[edit]. Evolutionary changes have pushed plants to adapt to the changing ... In the 1980s, while investigating nucleotide sequences in mouse genome loci, the Hogness box sequence was found and "boxed in" ... "Nucleotide sequences of mouse genomic loci including a gene or pseudogene for U6 (4.8S) nuclear RNA". Nucleic Acids Research ...
"Extremely conserved histone H4 N terminus is dispensable for growth but essential for repressing the silent mating loci in ... histone gene expression outside of S phases is dependent on Hir proteins which form inactive chromatin structure at the locus ...
Locus. Chr. MT [1]. Mitochondrially encoded tRNA isoleucine also known as MT-TI is a transfer RNA which in humans is encoded by ... Cytochrome c oxidase deficiency is a rare genetic condition that can affect multiple parts of the body, including skeletal ...
Genetic diagnostic[edit]. Genetic tests may be useful in assessing whether a person has primary lactose intolerance. Lactase ... The locus can be expressed as 2q21.[20] The lactase deficiency also could be linked to certain heritages and varies widely. A ... This genetic defect is characterized by a complete lack of lactase (alactasia). About 40 cases have been reported worldwide, ... Genetic analysis shows lactase persistence has developed several times in different places independently in an example of ...
遺傳重組會交換不同染色體或同一染色體的不同區域之間的基因,而打破遺傳連鎖,讓基因能夠自由組合,並降低遺傳便車效應(genetic hitchhiking)。這使得天擇更有效率,因此,重組率高的區域會保留較少有害突變、較多有利的等位基因、和較少DNA複製的 ... I. The Number of Alleles at
Locus. Chr. 20 p11.2-p11.1. The inhibition of glycogen phosphorylase has been proposed as one method for treating type 2 ... "McArdle disease: molecular genetic update". Acta Myol. 26 (1): 53-7. PMC 2949323 . PMID 17915571 ...
Dehio C. and Schell J. (1994). „Identification of plant genetic loci involved in a post transcriptional mechanism for ... Fire A., Xu S., Montgomery M.K., Kostas S.A., Driver S.E., Mello C.C. (1998). „Potent and specific genetic interference by ...
Jacob F; Monod J (June 1961). "Genetic regulatory mechanisms in the synthesis of proteins". J Mol Biol. 3 (3): 318-56. doi: ... "Interchromosomal associations between alternatively expressed loci". Nature 435 (7042): 637-45. Bibcode:2005Natur.435..637S. ... Andrews, Christine A. (2010). "Natural Selection, Genetic Drift, and Gene Flow Do Not Act in Isolation in Natural Populations ... April 2010). "Analysis of genetic inheritance in a family quartet by whole-genome sequencing". Science 328 (5978): 636-9. ...
H மரபணு இருக்கையானது (locus) 19 வது நிறப்புரியில் அமைந்துள்ளது. இது மரபு டி.என்.ஏ வில் 5 kb க்கும் அதிகமான நீளத்துக்கு உள்ள, 3 ... யமட்டோட்டோ, et al., ABO இரத்த வகையில் உள்ள மூலக்கூறு நிலை மரபியல் அடிப்படைகள் (Molecular genetic basis of the histo-blood group ... Seltsam A, Hallensleben M, Kollmann A, Blasczyk R (2003). "The nature of diversity and diversification at the ABO locus". Blood ... and genetic variability". Stroke 37 (11): 2672-7. doi:10.1161/01.STR.0000244767.39962.f7. பப்மெட்:16990571. ...
Quantitative genetics focuses on genetic variance due to genetic interactions. Any two locus interactions at a particular gene ... Additive A locus. Additive B locus. Dominance A locus. Dominance B locus ... In this regression, the observed two locus genetic effects are treated as dependent variables and the "pure" genetic effects ... Wade MJ, Goodnight CJ (April 2006). "Cyto-nuclear epistasis: two-locus random genetic drift in hermaphroditic and dioecious ...
... grounds and this may be enhanced with studies on surgically excised corneal tissue and in some cases with molecular genetic ... Gene locus. Gene. Superficial corneal dystrophies. Meesmann dystrophy. AD. 12q13, 17q12. KRT3, KRT12. ...
Locus Cr. 21 q21.2 Beta-amiloide ou amiloide-beta (Aβ ou Abeta) é o termo con que se designan os péptidos de 36 a 43 ... Hardy J, Duff K, Hardy KG, Perez-Tur J, Hutton M (September 1998). "Genetic dissection of Alzheimer's disease and related ... are dependent on stimulation-protocol and genetic background". Exp Brain Res 179 (4): 621-30. PMID 17171334. doi:10.1007/s00221 ...
"Our results mean that we can now target the remaining loci on the genetic maps with deep sequencing to try and find the causal ... Scientists are closer to understanding the genetic causes of type 2 diabetes by identifying 111 new chromosome locations (loci ... The team discovered that the additional 111 loci and previously known 76 loci regulate the expression of at least 266 genes ... we first need to identify as many plausible candidate loci as possible. Genetic maps are key to this task, by integrating the ...
... genetic loci associated with type 2 diabetes diet, cure type 1 diabetes 2014 06, best food to get rid of diabetes naturally, m ... Genetic loci associated with type 2 diabetes diet,diabetes mellitus type 2 uitleg youtube,how to manage type 2 diabetes with ... The findings indicate that the genetic architecture of T2D in SSA is characterized by several risk loci shared with non-African ... Two of the 106 loci, INS-IGF2 rs3842770, and HLA-B rs2244020, were reported by the only meta-analysis GWAS in an African ...
NEW YORK (GenomeWeb) - The genetic loci that influence age-related epigenetic marks in the human brain may overlap with parts ...
The loci of evolution: how predictable is genetic evolution?. Stern DL1, Orgogozo V. ... Predicting the genetic basis of evolution requires a comprehensive synthesis of molecular developmental biology and population ... Is genetic evolution predictable? Evolutionary developmental biologists have argued that, at least for morphological traits, ... Cis-regulatory mutations currently represent approximately 22% of 331 identified genetic changes although the number of cis- ...
... Nat Genet. 2010 May;42(5):373-5. doi: 10.1038/ng.566. Epub ...
Biological insights from 108 schizophrenia-associated genetic loci.. Schizophrenia Working Group of the Psychiatric Genomics ... X1 and X2 are genotypes at the two loci, X1*X2 is the interaction between the two genotypes modeled in a multiplicative fashion ... Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by ... Genes whose transcriptional start is nearest to the most associated SNP at each schizophrenia-associated locus were tested for ...
Here we aim to characterize the genetic mechanism by which genetic variants at these loci may affect nearby genes to result in ... Genetic analyses of hepatic steatosis GWAS associated loci. E. K. Speliotes, Y. Chen, A. W. Tai University of Michigan, Ann ... Using genome wide association analysis (GWAS) we identified genetic variants in PNPLA3 and GCKR, and near LYPLAL1 that ...
... we increased discovery of genetic loci and identified two loci shared between neuroticism and schizophrenia and six loci shared ... Here we aimed to identify specific genetic loci shared between schizophrenia and the Big Five personality traits using a ... The study provides new insights into the relationship between personality traits and schizophrenia by highlighting genetic loci ... we evaluated overlap in common genetic variants. The Big Five personality traits neuroticism, extraversion, openness, ...
Using the high-resolution 26 Y-STR loci system, we investigated genetic and phylogenetic relationship between the Uyghur ... A set of high-resolution genetic markers could be useful to infer the genetic relationships between the Uyghur population and ... We also demonstrated that the 26 Y-STR loci system was potentially useful in forensic sciences because it has a large power of ... We found that the Uyghur population exhibited a genetic admixture of Eastern Asian and European populations and had a slightly ...
... environment interactions can generate new hypotheses about the function of poorly characterized genetic variants and ... Genetic susceptibility loci, pesticide exposure and prostate cancer risk PLoS One. 2013 Apr 4;8(4):e58195. doi: 10.1371/journal ... this study suggests known genetic susceptibility loci may modify the risk between pesticide use and prostate cancer. ... We evaluated SNP-environment interactions between 30 confirmed prostate cancer susceptibility loci and 45 pesticides and ...
... 29.04.2008. Story appearing in May issue of JLR. Researchers have mapped out a ... While this genetic locus does contain 375 known genes, the researchers highlighted three genes that are especially promising ...
Molecular genetic identification using probes that recognize polymorphic loci. US5541065. 14 Feb 1994. 30 Jul 1996. Hoffmann-La ... Table 3 contains a comparative list of the values of nucleotide diversity for an assortment of genetic loci. ... Prospective examples of other technologies applicable to analysis of the relevant genetic locus are described below. ... Functional selection for variants counters the normal effect of genetic drift and results in the survival of genetic variants. ...
Genetic variation in the SIM1 locus is associated with erectile dysfunction. Eric Jorgenson, Navneet Matharu, Melody R. Palmer ... Genetic variation in the SIM1 locus is associated with erectile dysfunction. Eric Jorgenson, Navneet Matharu, Melody R. Palmer ... Genetic variation in the SIM1 locus is associated with erectile dysfunction Message Subject (Your Name) has sent you a message ... Genetic variation in the SIM1 locus is associated with erectile dysfunction. Eric Jorgenson, Navneet Matharu, Melody R. Palmer ...
A genetic locus of enterocyte effacement conserved among diverse enterobacterial pathogens.. T K McDaniel, K G Jarvis, M S ... A genetic locus of enterocyte effacement conserved among diverse enterobacterial pathogens.. T K McDaniel, K G Jarvis, M S ... A genetic locus of enterocyte effacement conserved among diverse enterobacterial pathogens.. T K McDaniel, K G Jarvis, M S ... A genetic locus of enterocyte effacement conserved among diverse enterobacterial pathogens. Message Subject (Your Name) has ...
Genetic Locus), Cat Eye Syndrome Chromosome Region, including: function, proteins, disorders, pathways, orthologs, and ... CECR (Cat Eye Syndrome Chromosome Region) is a Genetic Locus. Diseases associated with CECR include Cat Eye Syndrome. ...
Genetic Locus), Dystonia 21, Torsion (Autosomal Dominant), including: function, proteins, disorders, pathways, orthologs, and ... DYT21 (Dystonia 21, Torsion (Autosomal Dominant)) is a Genetic Locus. Diseases associated with DYT21 include Dystonia 21. ... A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3. (PMID: 21301909 ...
... called the Dlk1-Gtl2 locus, plays a critical role in protecting hematopoietic, or blood-forming, stem cells -- a discovery ... Stowers Investigator Linheng Li, Ph.D., and colleagues found that the genetic locus Dlk1-Gtl2 plays a critical role in ... How a genetic locus protects adult blood-forming stem cells. Stowers Institute for Medical Research ... The addition of a fluorescent tag to the Gtl2 locus could allow researchers to mark other adult stem cells in the gut, hair ...
... dc.date.accessioned. 2018-08-06T10:59:27Z. ... Novel genetic loci associated with hippocampal volume. Nature Communications. 2017, 8:13624, 1-12. ... Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology ... The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data  ...
"Genetic Loci" by people in Harvard Catalyst Profiles by year, and whether "Genetic Loci" was a major or minor topic of these ... 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 ... Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a ... "Genetic Loci" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ...
Association of Genetic Loci With Glucose Levels in Childhood and Adolescence. Adam Barker, Stephen J. Sharp, Nicholas J. ... Association of Genetic Loci With Glucose Levels in Childhood and Adolescence. Adam Barker, Stephen J. Sharp, Nicholas J. ... Association of Genetic Loci With Glucose Levels in Childhood and Adolescence Message Subject (Your Name) has forwarded a page ... Association of Genetic Loci With Glucose Levels in Childhood and Adolescence. A Meta-Analysis of Over 6,000 Children. ...
1995 Multiple trait analysis of genetic mapping for quantitative trait loci. Genetics 140: 1111-1127. ... Empirical Nonparametric Bootstrap Strategies in Quantitative Trait Loci Mapping: Conditioning on the Genetic Model. Claude M. ... Empirical Nonparametric Bootstrap Strategies in Quantitative Trait Loci Mapping: Conditioning on the Genetic Model. Claude M. ... Empirical Nonparametric Bootstrap Strategies in Quantitative Trait Loci Mapping: Conditioning on the Genetic Model. Claude M. ...
Genetic obesity unmasks nonlinear interactions between murine type 2 diabetes susceptibility loci.. ... Genetic obesity unmasks nonlinear interactions between murine type 2 diabetes susceptibility loci. ... Genetic obesity unmasks nonlinear interactions between murine type 2 diabetes susceptibility loci. ... Genetic obesity unmasks nonlinear interactions between murine type 2 diabetes susceptibility loci. ...
We developed a genetic risk score (GRS), based on the known glucose-raising loci, in order to investigate the cumulative effect ... Also, variants at the SLC30A8, PROX1, MTNR1B, ADRA2A, G6PC2, LPIN3 loci indicated nominal evidence for association with glucose ... The effect of the genetic risk score was also significant in the GOMAP study (β ± SE: 0.011 ± 0.005, P = 0.031). In the meta- ... We also demonstrate that the cumulative effect of the established glucose loci yielded a significant association with ...
PubMed journal article High-density genetic mapping identifies new susceptibility loci for rheumatoid arthriti were found in ... Genetic Loci. Genetic Predisposition to Disease. Genome-Wide Association Study. Humans. Male. Oligonucleotide Array Sequence ... "High-density Genetic Mapping Identifies New Susceptibility Loci for Rheumatoid Arthritis." Nature Genetics, vol. 44, no. 12, ... High-density Genetic Mapping Identifies New Susceptibility Loci for Rheumatoid Arthritis. Nat Genet. 2012;44(12):1336-40. ...
Genetic Mapping of Linked Antibiotic Resistance Loci in Neisseria gonorrhoeae. Felix A. Sarubbi Jr., Eleanor Blackman, P. ... Genetic Mapping of Linked Antibiotic Resistance Loci in Neisseria gonorrhoeae. Felix A. Sarubbi Jr., Eleanor Blackman, P. ... Genetic Mapping of Linked Antibiotic Resistance Loci in Neisseria gonorrhoeae. Felix A. Sarubbi Jr., Eleanor Blackman, P. ... Genetic Mapping of Linked Antibiotic Resistance Loci in Neisseria gonorrhoeae Message Subject (Your Name) has forwarded a page ...
Stowers Investigator Linheng Li, Ph.D., and colleagues found that the genetic locus Dlk1-Gtl2 plays a critical role in ... How a genetic locus protects adult blood-forming stem cells. 26.11.2015 ... The addition of a fluorescent tag to the Gtl2 locus could allow researchers to mark other adult stem cells in the gut, hair ... "Most of the non-coding RNAs at the Gtl2 locus have been documented to function as tumor suppressors to maintain normal cell ...
Genetic Interactions Between Selection Lines and Candidate Quantitative Trait Loci. Trudy F. C. Mackay and James D. Fry ... Genetic Interactions Between Selection Lines and Candidate Quantitative Trait Loci. Trudy F. C. Mackay and James D. Fry ... Genetic Interactions Between Selection Lines and Candidate Quantitative Trait Loci. Trudy F. C. Mackay and James D. Fry ... Genetic interactions between spontaneous mutations affecting bristle number and the candidate locus mutations were common, and ...
Rangewide Genetic Variation in Coast Redwood Populations at a Chloroplast Microsatellite Locus. In: Standiford, Richard B.; ... Rangewide Genetic Variation in Coast Redwood Populations at a Chloroplast Microsatellite Locus ... Genetic diversity was moderate to high in populations north of the San Francisco Bay but low to very low in more southerly ... chloroplast microsatellite, coast redwood, genetic drift, Sequoia sempervirens. Related Search. *Clonal Spread in Second Growth ...
"Alzheimers loci: epigenetic associations and interaction with genetic factors." Annals of Clinical and Translational Neurology ... Results: Six genes regions (17 CpGs) showed evidence of CpG associations with NP, independent of genetic variation - BIN1 (5), ... Interpretation These observations suggest that, within known AD susceptibility loci, methylation is related to pathologic ... processes of AD and may play a largely independent role by influencing gene expression in AD susceptibility loci. ...
  • Scientists are closer to understanding the genetic causes of type 2 diabetes by identifying 111 new chromosome locations ('loci') on the human genome that indicate susceptibility to the disease, according to a UCL-led study in collaboration with Imperial College London. (ucl.ac.uk)
  • We looked for evidence of transferability of established T2D susceptibility loci reported in the literature from GWAS and meta-analysis of GWAS (n = 106 loci-Supplementary Table 2). (amazonaws.com)
  • These findings indicate that personality traits and schizophrenia exist on a continuum in genomic space, and that some genetic variants associated with personality traits also affect susceptibility to schizophrenia 10 , 12 . (nature.com)
  • Despite the assembly of very large GWAS cohorts (over tens of thousands of participants) much of the genetic architecture underlying susceptibility to schizophrenia and personality traits remains to be defined, and their biological underpinnings are still largely unknown. (nature.com)
  • We evaluated SNP-environment interactions between 30 confirmed prostate cancer susceptibility loci and 45 pesticides and prostate cancer risk in 776 cases and 1,444 controls in the Agricultural Health Study. (nih.gov)
  • Although additional studies are needed and the exact mechanisms are unknown, this study suggests known genetic susceptibility loci may modify the risk between pesticide use and prostate cancer. (nih.gov)
  • Genetic obesity unmasks nonlinear interactions between murine type 2 diabetes susceptibility loci. (diabetesjournals.org)
  • Nonlinear interactions between obesity and genetic risk factors are thought to determine susceptibility to type 2 diabetes. (diabetesjournals.org)
  • We used genetic obesity as a tool to uncover latent differences in diabetes susceptibility between two mouse strains, C57BL/6J (B6) and BTBR. (diabetesjournals.org)
  • Amplification of the genetic signal from these latent diabetes susceptibility alleles in F2-ob/ob mice permitted discovery of an interaction between the two loci that substantially increased the risk of severe type 2 diabetes. (diabetesjournals.org)
  • We identified 14 new susceptibility loci, 9 of which were associated with rheumatoid arthritis overall and five of which were specifically associated with disease that was positive for anticitrullinated peptide antibodies, bringing the number of confirmed rheumatoid arthritis risk loci in individuals of European ancestry to 46. (unboundmedicine.com)
  • Interpretation These observations suggest that, within known AD susceptibility loci, methylation is related to pathologic processes of AD and may play a largely independent role by influencing gene expression in AD susceptibility loci. (harvard.edu)
  • CONCLUSIONS: Sex differences and other demographic differences in cancer susceptibility can provide important clues to etiology, and these differences can be leveraged for discovery in genetic association studies. (aacrjournals.org)
  • While the role of genetic risk factors in the etiology of uveal melanoma (UM) has been strongly suggested, the genetic susceptibility to UM is currently vastly unexplored. (osu.edu)
  • Our data provides first evidence that the genetic factors associated with pigmentation traits are risk loci of UM susceptibility. (osu.edu)
  • The study identified several promising susceptibility loci and showed the cumulative effect of multiple risk loci in HNSCC SPT/recurrence. (aacrjournals.org)
  • LD Score is the sum of the r 2 values between a variant and all other known variants within a 1 cM window, and quantifies the amount of genetic variation tagged by that variant. (nih.gov)
  • Using genome wide association analysis (GWAS) we identified genetic variants in PNPLA3 and GCKR, and near LYPLAL1 that associate with population based hepatic steatosis. (ashg.org)
  • Here we aim to characterize the genetic mechanism by which genetic variants at these loci may affect nearby genes to result in hepatic triglyceride accumulation. (ashg.org)
  • Using summary statistics from genome-wide association studies (GWAS) on personality traits in the 23andMe cohort (n = 59,225) and schizophrenia in the Psychiatric Genomics Consortium cohort (n = 82,315), we evaluated overlap in common genetic variants. (nature.com)
  • Uncovering SNP (single nucleotide polymorphisms)-environment interactions can generate new hypotheses about the function of poorly characterized genetic variants and environmental factors, like pesticides. (nih.gov)
  • Twin studies support the role of genetic risk factors underlying erectile dysfunction, but no specific genetic variants have been identified. (pnas.org)
  • OBJECTIVE To investigate whether associations of common genetic variants recently identified for fasting glucose or insulin levels in nondiabetic adults are detectable in healthy children and adolescents. (diabetesjournals.org)
  • We refined the peak of association to a single gene for 19 loci, identified secondary independent effects at 6 loci and identified association to low-frequency variants at 4 loci. (unboundmedicine.com)
  • The object of the study was to study gene variants, which is to say individual differences in genetic code. (healthcanal.com)
  • There are several millions of common variants distributed throughout the entire genome, but since many of these variants are located between two genes rather than within one gene, scientists usually talk about genetic loci rather than genes. (healthcanal.com)
  • The researchers then carried out a targeted follow-up of the 42 gene variants with the strongest BMI correlation in an additional 125,931 individuals, from which they were able to confirm the 14 previously known gene loci and identify 18 new loci associated with BMI. (healthcanal.com)
  • Eight common genetic variants showed a significant association with T2D in our study population. (wiley.com)
  • Therefore, in this study, we made use of integrative approaches to prioritize genes and pathways affected by sepsis associated genetic variants. (frontiersin.org)
  • Taken together, our study suggests that in addition to immune pathways, genetic variants may also affect non-immune related pathways. (frontiersin.org)
  • Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and psychiatric illnesses, and brain structure. (uio.no)
  • Until recently, attempts at identifying genetic variants that affect risk of these common diseases have been hampered by poor reproducibility of associations and limited coverage of the genome. (ahajournals.org)
  • A cross-trait analysis of AN and BMI loci revealed variants at three chromosomal loci with potential joint impact. (unc.edu)
  • Candidate causal variants from three independent genetic signals at the 5q11.2 breast cancer risk locus regulate MAP3K1 . (ashg.org)
  • To identify the causal variant(s) underlying this association, we analysed 909 genetic variants across 5q11.2 in 103,991 breast cancer cases and controls from 52 studies. (ashg.org)
  • Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR, and SPINK1 variants were associated with pancreatitis risk. (harvard.edu)
  • 13 ] confirmed the association of the PAX3 locus in European subjects, and further identified four novel genetic variants affecting face morphology close to the genes PRDM16, TP63, C5orf50 , and COL17A1 . (biomedcentral.com)
  • Individual and combined effects (genetic risk scores) of these variants on (subclinical) hypo- and hyperthyroidism, goiter and thyroid cancer were studied. (eur.nl)
  • Genetic variants with genome-wide significant eye color association were further tested in replication samples of 2,261 participants of the UK Twin Study (TwinsUK) and 1,282 participants of the Brisbane Twin Nevus Study (BTNS) Australia. (prolekare.cz)
  • Objective Genome-wide association studies (GWAS) have identified genetic variants within multiple risk loci as predisposing to intestinal inflammatory diseases, including Crohn's disease, ulcerative colitis and coeliac disease. (bmj.com)
  • GWAS studies have identified large numbers of genetic risk loci associated with increased risk of developing intestinal inflammatory disorders, but most risk variants are non-coding and are believed to act through regulation of gene expression in a cell-type specific manner. (bmj.com)
  • This is the first large-scale systematic evaluation of germ-line genetic variants for their roles in HNSCC SPT/recurrence. (aacrjournals.org)
  • Scottish populations also showed a deficit of rare nucleotide variants (multi-locus Tajima's D=0.316 vs D=−0.379) and differed significantly from mainland populations in allelic frequency and/or haplotype structure at several loci. (nerc.ac.uk)
  • Genome wide association studies (GWAS) for type 2 diabetes (T2D) undertaken in European and Asian ancestry populations have yielded dozens of robustly associated loci. (amazonaws.com)
  • Two of the 106 loci, INS-IGF2 rs3842770, and HLA-B rs2244020, were reported by the only meta-analysis GWAS in an African ancestry population [the MEta-analysis of T2D in African Americans (MEDIA) Consortium, Ng et al. (amazonaws.com)
  • Genetic analyses of hepatic steatosis GWAS associated loci. (ashg.org)
  • Using the Immunochip custom SNP array, which was designed for dense genotyping of 186 loci identified through genome-wide association studies (GWAS), we analyzed 11,475 individuals with rheumatoid arthritis (cases) of European ancestry and 15,870 controls for 129,464 markers. (unboundmedicine.com)
  • Another GWAS was conducted in a cohort of extremely premature infants to identify genetic loci associated with sepsis onset ( 6 ). (frontiersin.org)
  • Objective To carry out a Genome-Wide Association Study (GWAS) to investigate genetic determinants of circulating levels of these fatty acids. (ahajournals.org)
  • In conclusion, this meta-analysis of GWAS data from several of the largest AD GWAS studies to date confirms previously known and recently described associations (CLU and PICALM) and shows genome-wide significance and replication for 2 biologically plausible, novel loci on chromosomes 2 and 19. (natap.org)
  • Objectives - To identify and strengthen additional loci associated with AD and confirm these in an independent sample and to examine the contribution of recently identified genes to AD risk prediction in a 3-stage analysis of new and previously published GWAS on more than 35 000 persons (8371 AD cases). (natap.org)
  • We performed a 3-stage analysis of GWAS data to identify additional loci associated with late-onset AD. (natap.org)
  • On the contrary, the top locus in the GWAS study was associated with an increase in retinal thickness (b=0.036, p-value=0.001). (arvojournals.org)
  • 5 × 10 − 6 were selected to determine the replication of the associations, and meta-analysis of discovery GWAS and the replication analysis resulted in five genome-wide significant loci. (biomedcentral.com)
  • 12 ] conducted a genome-wide association study (GWAS) and found that a genetic variant of the PAX3 locus was associated with nose shape. (biomedcentral.com)
  • We tested the association of T1D and T2D GWAS-implicated loci in 978 LADA cases and 1057 non-diabetic controls of European ancestry using a linear mixed model. (biomedcentral.com)
  • This first GWAS meta-analysis for TPOAbs identified five newly associated loci, three of which were also associated with clinical thyroid disease. (eur.nl)
  • None of the other AlzGene and GWAS loci showed significant effects on CSF tau. (uta.fi)
  • We aimed to characterise whole transcriptomes for each common T lymphocyte subset resident within the gut mucosa, and use these to infer biological insights and highlight candidate genes of interest within GWAS risk loci. (bmj.com)
  • Intestinal-specific T cell transcripts were enriched in GWAS risk loci for Crohn's disease, ulcerative colitis and coeliac disease, but also specific extraintestinal immune-mediated diseases, allowing prediction of novel candidate genes. (bmj.com)
  • The team discovered that the additional 111 loci and previously known 76 loci regulate the expression of at least 266 genes that neighbour the identified disease loci. (ucl.ac.uk)
  • The vast majority of these loci were found outside of gene coding regions but coincided with regulatory 'hotspots' that alter the expression of these genes in body fat. (ucl.ac.uk)
  • They are currently investigating whether these loci alter the expression of the same genes in other tissues such as the pancreas, liver and skeletal muscle that are also relevant to type 2 diabetes. (ucl.ac.uk)
  • The approach of the quantitative geneticist does not allow the direct identification of the genes, but their positions can be estimated with the help of genetic markers. (genetics.org)
  • Results: Six genes regions (17 CpGs) showed evidence of CpG associations with NP, independent of genetic variation - BIN1 (5), CLU (5), MS4A6A (3), ABCA7 (2), CD2AP (1), and APOE (1). (harvard.edu)
  • Functional genetic approaches, which use large-scale mutagenesis screens to isolate mutant phenotypes, offer a powerful way to dissect, at the systems level, biological processes and to subsequently identify the genes involved by mapping and cloning the mutations. (jneurosci.org)
  • However, genes from such suggestive loci may also provide crucial information to unravel genetic mechanisms that determine sepsis heterogeneity. (frontiersin.org)
  • By integrating expression quantitative trait loci (eQTL) results from the largest whole-blood eQTL database, cytokine QTLs from pathogen-stimulated peripheral blood mononuclear cells (PBMCs), publicly available blood transcriptome data from pneumoniae-derived sepsis patients, and transcriptome data from pathogen-stimulated PBMCs, we identified 55 potential genes affected by 39 independent loci. (frontiersin.org)
  • By performing pathway enrichment analysis at these loci we found enrichment of genes for adherences-junction pathway. (frontiersin.org)
  • We also found that transient deficiency of FER and MAN2A1 affect endothelial response to stimulation, indicating that both FER and MAN2A1 could be the causal genes at this locus. (frontiersin.org)
  • Moreover, which genes and pathways in these loci affect sepsis survival remains to be studied. (frontiersin.org)
  • Remarkably, none of the genomic loci affecting mean shape contribute these networks despite their enrichment for genes involved in craniofacial variation and diseases. (frontiersin.org)
  • The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. (lu.se)
  • SNPs in GCKR ( P =9.8x10 -10 ) and HIF1AN ( P =5.7x10 -9 ) were associated with higher 16:1n-7, whereas those in PKD2L1 ( P =5.7x10 -15 ) and another locus on chromosome 2 (not near known genes) were associated with lower 16:1n-7. (ahajournals.org)
  • RefSeq NM_015638 ])4-6 and regions of interest (eg, on chromosomes 14q, 10q, and 12q),7-10 but no locus outside of the APOE region consistently reached genome-wide significance.4, 11-12 These disappointing results are most likely explained by the modest sample size and, hence, limited statistical power of early studies to detect genes with small effects. (natap.org)
  • Recently, expression quantitative loci (eQTL) mapping studies, where expression levels of thousands of genes are viewed as quantitative traits, have been used to provide greater insight into the biology of gene regulation. (gerad.ca)
  • Genetic Analysis Using an Isogenic Mating Pair of Aspergillus fumigatus Identifies Azole Resistance Genes and Lack of MAT Locus's Role in Virulence. (sigmaaldrich.com)
  • Sequence and transcriptional analyses of the region flanking the groEL and groES genes of various bifidobacteria revealed similar groEL - cspA and groES gene units, suggesting a novel genetic organization of these chaperones. (asm.org)
  • Detailed phenotypic characterization carried out in the present study showed that both the loci positively regulate various vegetative, reproductive and yield related traits across different growth stages strongly suggesting potential global regulatory role for the underlying genes. (edu.au)
  • These positions were significantly refined in the present study as LATE3 and LATE4 were mapped within a narrow genetic intervals in the syntenic regions of M. truncatula consisted of 62 (chromosome 3) and 54 (chromosome 7) genes respectively. (edu.au)
  • Genetic interaction and yeast two hybrid assay unveiled complementarity and strong physical interaction between LATE3 and LATE4 which strongly suggested that these two genes act in the same regulatory process in a likely inter-dependent manner. (edu.au)
  • Further genetic and regulatory interaction studies involving already known key pea flowering loci showed that LATE3 and LATE4 mediate flowering by regulating expression of known genes such as FTa1, FTc, PIM (PsAP1), VEG1(PsFULc), UNI (PsLFY)and VEG2 (PsFD) and LF (PsTF1c). (edu.au)
  • Of the remaining two mutants, one contained a transposon insertion in a locus involved in lipopolysaccharide core biosynthesis ( waaF ), while the other contained an insertion in an open reading frame homologous to UDP-glucose dehydrogenase genes. (pubmedcentralcanada.ca)
  • Purification of these proteins and cloning of the corresponding genes provided evidence for the presence of two loci. (asm.org)
  • The detection of causal genes for diseases impacted by locus heterogeneity is difficult with genetic analysis methods such as linkage analysis and genome sequencing. (wikipedia.org)
  • Several nonparametric bootstrap methods are tested to obtain better confidence intervals for the quantitative trait loci (QTL) positions, i.e. , with minimal width and unbiased coverage probability. (genetics.org)
  • These positions are termed quantitative trait loci (QTLs). (genetics.org)
  • We have investigated genetic interactions between spontaneous mutations affecting abdominal and sternopleural bristle number that have accumulated in 12 long-term selection lines derived from an inbred strain, and mutations at 14 candidate bristle number quantitative trait loci. (genetics.org)
  • The quantitative test for complementation was to cross the selection lines to an inbred wild-type strain (the control cross) and to a derivative of the control strain into which the mutant allele at the candidate locus to be tested was substituted (the tester strain). (genetics.org)
  • It is possible that much of the response to selection was from new mutations at candidate bristle number quantitative trait loci, and that for some of these loci, mutation rates were high. (genetics.org)
  • Quantitative trait loci and diferential gene expression analyses reveal the genetic basis for negatively associated beta‑carotene and starch content in hexaploid sweetpotato (Ipomoea batatas (L.) Lam). (cipotato.org)
  • Fifty-eight previously reported quantitative trait loci (QTL) for 12 traits in these populations were also integrated into the map. (ebscohost.com)
  • Identification of genetic markers for initial sensitivity and rapid tolerance to ethanol-induced ataxia using quantitative trait locus analysis in BXD recombinant inbred mice. (aspetjournals.org)
  • We then tested 25 recombinant inbred strains from among strains representing a cross between C57BL/6J and DBA/2J inbred strains, followed by a quantitative trait locus analysis with a database of 1522 markers to identify provisional loci. (aspetjournals.org)
  • In this research, two recombinant inbreed line (RIL) populations derived from CI13227 x Suwon (104 RILs) and CI13227 x Everest (184 RILs) and one doubled haploid (DH) population derived from CI13227 x Lakin with 181 lines were used to identify quantitative trait loci (QTLs) for slow leaf rusting resistance. (k-state.edu)
  • Our goal in this study was to fine map the chromosomal location of volumetric BMD (vBMD) quantitative trait loci (QTLs) in mouse distal chromosome 1 (Chr 1). (galileo-training.com)
  • Replication timing quantitative trait loci (or rtQTL) are genetic variations that lead to a differential use of replication origins, exhibiting allele-specific effects on replication timing. (wikipedia.org)
  • The team found that all three loci overlapped with areas of the chromosome containing multiple regulatory elements and epigenetic markers along with candidate causal mutations for type 2 diabetes that can be further investigated. (ucl.ac.uk)
  • In the discovery cohort, we identified a single locus (rs17185536-T) on chromosome 6 near the single-minded family basic helix-loop-helix transcription factor 1 ( SIM1 ) gene that was significantly associated with the risk of erectile dysfunction (odds ratio = 1.26, P = 3.4 × 10 −25 ). (pnas.org)
  • The EPEC locus and a different virulence locus of uropathogenic E. coli insert into the E. coli chromosome at the identical site and share highly similar sequences near the point of insertion. (pnas.org)
  • CECR (Cat Eye Syndrome Chromosome Region) is a Genetic Locus. (genecards.org)
  • Abnormalities in the Gtl2 locus on human chromosome 14q32.2 are associated with uniparental disomy in which an individual receives two copies of a chromosome from one parent and no copy from the other parent. (eurekalert.org)
  • In particular, when these additional markers are situated on the chromosome being scanned, one can observe sharp falls in the likelihood ratio curve at some marker loci. (genetics.org)
  • For example, the locus of the gene OCA1 (or Oculocutaneous Albinism Type 1, the gene associated with albinism) is on 11q1.4-a2.1, which means it is on the long arm of chromosome 11, between sub-band 4 of band 1 to sub-band 1 of band 2. (biology-online.org)
  • The locus on chromosome 9 corresponds to the dilute locus, and may be explained by reduced pigmentation and thus altered laser energy absorption. (arvojournals.org)
  • The locus observed on chromosome 10 is consistent with the VEGF-response locus AngVq1 previously mapped by our group. (arvojournals.org)
  • 5 The locus on chromosome 9p21.3 was also identified in 2 other GWA studies 3,4 and has since been associated with CAD, stroke, as well as abdominal aortic and intracranial aneurysms in several other cohorts. (ahajournals.org)
  • 6-8 The locus on chromosome 1p13.3 was recently shown to also be strongly associated with LDL cholesterol concentration, 9-13 reinforcing the close mechanistic association between the variability in LDL levels and CAD risk. (ahajournals.org)
  • The chromosome 10 locus is particularly promising given that the association with obesity was primarily driven by females. (unc.edu)
  • Triticeae species contain syntenic loci with single-copy orthologs of Sr22 on chromosome 7, except Hordeum vulgare, which has experienced major expansions and rearrangements at the locus. (jic.ac.uk)
  • Locus heterogeneity should not be confused with allelic heterogeneity, in which a single phenotype can be produced by multiple mutations, all of which are at the same locus on a chromosome. (wikipedia.org)
  • Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. (nih.gov)
  • ospA alleles ( 7 ) and IGS2 loci were likewise the rrs and rrlA rDNA, here called IGS1. (cdc.gov)
  • Differentiation of these two groups is consistent with the loss of rare alleles in the smaller, more fragmented southern populations by genetic drift. (usda.gov)
  • Genetic risk scores (GRSs) were calculated as the sum of the weighted effect of HbA1c-increasing alleles. (wiley.com)
  • 0.05) for nine SNP alleles at three independent loci. (unc.edu)
  • Natural mutations have repeatedly generated loss-of-function alleles at the E4 locus, and these have accumulated in local populations. (mdpi.com)
  • Genetic complementation analysis of all mutations at the vnd locus, with lethal alleles at adjacent loci, indicates that all lesions at the locus vnd affect only one vital gene function in the region. (deepdyve.com)
  • LADA is genetically closer to T1D than T2D, although the genetic load of T1D risk alleles is less than childhood-onset T1D, particularly at the major histocompatibility complex region, potentially accounting for the later disease onset. (biomedcentral.com)
  • At the 17q21.31 locus, stepwise regression analysis confirmed the presence of multiple independent loci (localized near MAPT and KANSL1 ). (springer.com)
  • Due to limited sepsis patient cohort size and extreme heterogeneity, only one significant locus and suggestive associations at several independent loci were implicated by three genome-wide association studies. (frontiersin.org)
  • It is becoming increasingly clear that the heterogeneity is determined by impact of multiple risk factors including host genetic variation and pathogens ( 2 ). (frontiersin.org)
  • and (2) Do canalization and developmental stability rely on the same loci and genetic architecture and do they involve the same patterns of shape variation? (frontiersin.org)
  • We also found that the patterns of shape FA and individual variation are largely similar and rely on similar multilocus epistatic genetic networks, suggesting that the processes channeling variation within and among individuals are largely common. (frontiersin.org)
  • Phenotypic robustness can be defined as the ability of an organism to buffer the impact of internal (e.g., genetic variation) and external factors (e.g., environmental effects) on the phenotype. (frontiersin.org)
  • In this article, the genetic control and variation in the steady-state quantum yield of PSII (Φ PSII ) is analyzed for diploid potato plants. (wur.nl)
  • We analyzed the variation of eighteen miniSTR loci in 411 randomly chosen individuals from Korea to increase the probability that a degraded sample can be typed, as well as to provide an expanded and reliable population database. (biomedsearch.com)
  • Here, I use the Sadhu family of non-LTR retroposons in Arabidopsis thaliana as models to understand the connection between genetic and epigenetic variation. (cornell.edu)
  • We analyzed both genetic and epigenetic variation in two different Sadhu elements, the heterochromatic Sadhu1-1 and the euchromatic Sadhu6-1. (cornell.edu)
  • To test the source of variation in epigenetic state at these loci, we crossed two strains with differentially methylated Sadhu elements and observed no trans-activation of the silenced allele, nor repression of the transcribed element in the hybrids. (cornell.edu)
  • We report results of an international 3-stage genome-wide analysis to study genetic variation underlying late-onset, sporadic AD. (natap.org)
  • Extensive Genetic Variation at the Sr22 Wheat Stem Rust Resistance Gene Locus in the Grasses Revealed Through Evolutionary Genomics and Functional Analyses. (jic.ac.uk)
  • Furthermore, this study underscores the importance of incorporating germ-line genetic variation data with clinical and risk factor data in constructing prediction models for clinical outcomes. (aacrjournals.org)
  • The Loci of Evolution catalogData from: The loci of repeated evolution: a catalogue of genetic hotspots of phenotypic variation. (datadryad.org)
  • The mutations uncovered by our behavioral assays provide distinct entry points for the study of visual pathways and set the stage for a genetic dissection of vertebrate vision. (jneurosci.org)
  • In conclusion we identify novel genetic loci and pathways contributing to the heritability of general cognitive function. (uio.no)
  • These loci belong to multiple biological pathways, with the top locus previously associated to retinal vasculature calibre and the other four with the glycine/serine metabolism pathway. (arvojournals.org)
  • Our findings emphasize the importance of detailed physiological characterization of such loci for improved understanding of pathways associated with alterations in glucose homeostasis and eventually type 2 diabetes. (lu.se)
  • Heterogenous loci involved in formation of the same phenotype often contribute to similar biological pathways. (wikipedia.org)
  • Schizophrenia is associated with differences in personality traits, and recent studies suggest that personality traits and schizophrenia share a genetic basis. (nature.com)
  • Here we aimed to identify specific genetic loci shared between schizophrenia and the Big Five personality traits using a Bayesian statistical framework. (nature.com)
  • The study provides new insights into the relationship between personality traits and schizophrenia by highlighting genetic loci involved in their common genetic etiology. (nature.com)
  • In order to increase the understanding of the specific molecular genetic mechanisms jointly influencing personality traits and schizophrenia, and inform the underlying biology linking these normal and pathological mental phenotypes, we here aimed to identify genetic loci shared between schizophrenia and personality traits. (nature.com)
  • Whether comparing the QTLs for several traits or using the candidate gene approach, we have to contend with the uncertainty attached to the estimate of a locus position, and so, the comparison between the different models becomes a statistical test. (genetics.org)
  • The present study was conducted within the GIANT (Genetic Investigation of ANthropometric Traits) Consortium and comprises almost 100 studies with some 400 co-authors. (healthcanal.com)
  • Our screen showed that a significant fraction (∼5%) of the essential loci also participate in visual functions but did not reveal any systematic genetic linkage to particular morphological traits. (jneurosci.org)
  • To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. (lu.se)
  • The merger involves sexual recombination, selection of desired traits, and genomics to identify any associated loci. (sigmaaldrich.com)
  • The heritability of craniofacial traits has been reported to be 0.8 based on analysis of the lateral cephalogram from X-ray profiles of parents and their offspring [ 8 ] or 0.41-0.86 based on twin studies [ 9 ], suggesting that face morphology is more strongly determined by genetic factors than environmental factors. (biomedcentral.com)
  • OBJECTIVE-Recent genome-wide association studies have revealed loci associated with glucose and insulin-related traits. (lu.se)
  • RESEARCH DESIGN AND METHODS-We investigated associations of loci identified by the Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) with circulating proinsulin, measures of insulin secretion and sensitivity from oral glucose tolerance tests (OGTTs), euglycemic clamps, insulin suppression tests, or frequently sampled intravenous glucose tolerance tests in nondiabetic humans (n = 29,084). (lu.se)
  • Some QTL associated with economically important traits detected in different genetic backgrounds mapped to similar genomic regions of the integrated map, suggesting that such QTL are responsible for the phenotypic variability observed in a broad array of watermelon germplasm. (ebscohost.com)
  • Background: Cross-sectional genome-wide association studies have identified hundreds of loci associated with blood lipids and related cardiovascular traits, but few genetic association studies have focused on long-term changes in blood lipids. (diva-portal.org)
  • CONCLUSIONS: Genetic analysis using congenic sublines revealed that the initial BMD QTL on Chr 1 is a complex site with multiple loci affecting bone phenotypes, showing the value of the congenic approach in clearly identifying loci that control specific traits. (galileo-training.com)
  • We tested each of these SNPs, and SNPs in linkage disequilibrium (LD) with these index SNPs, for an association with T2D in order to assess transferability and to fine map the loci leveraging the generally reduced LD of African genomes. (amazonaws.com)
  • Short tandem repeats (STRs) are genetic markers that are more informative than single nucleotide polymorphisms (SNPs) and reveal more recent events in population history, because of its high mutability and high degree of allelic polymorphism. (nature.com)
  • We performed meta-analyses to test associations of individual SNPs and a weighted risk score of the 16 loci with fasting glucose. (diabetesjournals.org)
  • Results:Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT rs10069690 in 5p15.33, rs704010 in 10q22.3, and rs8170 in 19p13.11): per allele odds ratios were 1.29 (95% confidence interval (CI) 1.04-1.59), p=0.02, 1.52 (95% CI 1.12-2.08), p=0.01, and 1.30 (95% CI 1.01-1.68), p=0.04, respectively. (aacrjournals.org)
  • Index SNPs in five loci were replicated, including three associated with ER−/PR− breast cancer ( TERT rs10069690 in 5p15.33, rs704010 in 10q22.3, and rs8170 in 19p13.11): per allele ORs were 1.29 [95% confidence interval (CI) 1.04-1.59], P = 0.02, 1.52 (95% CI 1.12-2.08), P = 0.01, and 1.30 (95% CI 1.01-1.68), P = 0.04, respectively. (aacrjournals.org)
  • Results We found SNPs at 7 novel loci linked at GWA significance to levels of one or more of these fatty acids ( Figure ). (ahajournals.org)
  • Interestingly, four SNPs within these five face morphology-related loci showed discrepancies in allele frequencies among ethnic groups. (biomedcentral.com)
  • We tested 25 SNPs for genetic association with clinical AD in our cohort comprised of 890 AD patients and 701-age matched healthy controls using logistic regression. (uta.fi)
  • Before we can conduct the functional studies required in order to better understand the molecular basis of this disease, we first need to identify as many plausible candidate loci as possible. (ucl.ac.uk)
  • Analyses of variance of the (tester - control) differences among and within groups of replicate lines selected in the same direction for the same trait showed significant group effects for several candidate loci. (genetics.org)
  • Major candidate loci will be confirmed by genotyping B6D2F2 offspring that have been tested for initial sensitivity and tolerance. (aspetjournals.org)
  • MSI was detected in 1 of 37 lesions at a single locus, BAT-26, whereas heterozygosity at BMPR2 was retained at all informative loci. (ahajournals.org)
  • Genetic analysis revealed that AvrBs4 recognition in tomato is governed by a single locus, designated Bs4 (bacterial spot resistance locus no. 4). (apsnet.org)
  • We then employed a relatively inexpensive, yet highly powerful strategy to identify genomic loci associated with azole resistance. (sigmaaldrich.com)
  • Locus heterogeneity occurs when mutations at multiple genomic loci are capable of producing the same phenotype (ie. (wikipedia.org)
  • Old growth and second growth populations of coast redwood (Sequoia sempervirens) were sampled at 10 locations throughout its range and analyzed at a highly variable chloroplast microsatellite locus. (usda.gov)
  • With the help of computer simulations,we investigate to what extent genetic distancemeasures applied to microsatellite data can nevertheless yield useful estimators for phylogenetic relationships demographic parameters. (deepdyve.com)
  • We have isolated more than 50 microsatellite loci from the whooping crane (Grus americana ). (unl.edu)
  • DNA was analyzed for loss of heterozygosity at BMPR2 and for microsatellite instability (MSI) at 5 loci. (ahajournals.org)
  • Type 2 diabetes is the world's most widespread and devastating metabolic disorder and previously only 76 loci were known and studied. (ucl.ac.uk)
  • The study, published today in The American Journal of Human Genetics , used a method developed at UCL based on highly informative genetic maps to investigate complex disorders such as type 2 diabetes. (ucl.ac.uk)
  • European and African American sample populations comprising 5,800 type 2 diabetes case subjects and 9,691 control subjects were analysed, revealing multiple type 2 diabetes loci at regulatory hotspots across the genome. (ucl.ac.uk)
  • No disease with a genetic predisposition has been more intensely investigated than type 2 diabetes. (ucl.ac.uk)
  • This provides a larger number of characterised loci for scientists to study and will allow us to build a more detailed picture of the genetic architecture of type 2 diabetes," explained lead author, Dr Nikolas Maniatis (UCL Genetics, Evolution & Environment). (ucl.ac.uk)
  • Three loci present in African American and European populations were analysed further using deep sequencing in an independent sample of 94 European patients with type 2 diabetes and 94 control subjects in order to identify genetic mutations that cause the disease. (ucl.ac.uk)
  • Previous genome-wide association studies have identified multiple type 2 diabetes (T2D) genetic risk loci in many populations. (wiley.com)
  • In this study, we investigated established type 1 diabetes (T1D) and type 2 diabetes (T2D) genetic loci in a large cohort of LADA cases to assess where LADA is situated relative to these two well-characterized, classic forms of diabetes. (biomedcentral.com)
  • To shed light on the historical interactions of the Uyghurs with the Europeans and Eastern Asians, a high-resolution genetic dataset as well as detailed population genetics and phylogenetic analyses based on the dataset are needed. (nature.com)
  • Bioinformatic analyses generated strong hypotheses for the causal SNP at seven loci. (unboundmedicine.com)
  • Segregation analyses indicated that metalaxyl insensitivity was determined primarily by one locus in each isolate, and that two of the isolates were heterozygous and the other homozygous for the insensitive allele. (apsnet.org)
  • Forensic and population genetic analyses of eighteen non-CODIS miniSTR loci in the Korean population. (biomedsearch.com)
  • Thus, the 18 miniSTR loci can be suitable for recovering useful information for analyzing degraded forensic casework samples and for adding supplementary genetic information for a variety of analyses involving closely related individuals where there is a need for additional genetic information. (biomedsearch.com)
  • All analyses were adjusted for age, sex, site of recruitment, and principal components to account for possible population genetic substructure where appropriate. (ahajournals.org)
  • These repetitive elements are rapidly becoming the molecular genetic marker of choice for genetic mapping, parentage analyses, and fundamental popUlation genetics. (unl.edu)
  • Bioinformatic analyses implicated these loci functionally in dendritic cells and natural killer cells, both of which are involved in IFN-α production in SLE. (ovid.com)
  • The aim of this study was to investigate the effects of genetic loci and clinical and lifestyle parameters, and their interactions, on HbA1c in nondiabetic adults. (wiley.com)
  • The authors did not explain in detail how genetic loci and conventional risk factors were related or how the effects of genetic loci were adjusted by conventional risk factors. (annals.org)
  • Above all, they did not show how including body mass index (BMI) altered the effects of genetic loci. (annals.org)
  • Of the additional 111 loci identified by the team, 93 (84%) are found in both African American and European populations and only 18 are European-specific. (ucl.ac.uk)
  • We are also very excited that most of the identified disease loci appear to confer risk of disease in diverse populations such as African Americans, implying our findings are likely to be universally applicable and not just confined to Europeans," added Dr Winston Lau (UCL Genetics, Evolution & Environment). (ucl.ac.uk)
  • A set of high-resolution genetic markers could be useful to infer the genetic relationships between the Uyghur population and European and Asian populations. (nature.com)
  • Using the high-resolution 26 Y-STR loci system, we investigated genetic and phylogenetic relationship between the Uyghur population and 23 reference European or Asian populations. (nature.com)
  • We found that the Uyghur population exhibited a genetic admixture of Eastern Asian and European populations and had a slightly closer relationship with the selected European populations than the Eastern Asian populations. (nature.com)
  • In this study we studied the genetic diversity at 26 Y-STR loci of Uyghurs living in southern Xinjiang and used them to infer genetic relationships between the Uyghur population and different European and Asian populations. (nature.com)
  • Very low FST values indicated that there was no significant genetic differentiation between adjacent old growth and second growth populations at each location. (usda.gov)
  • Genetic diversity was moderate to high in populations north of the San Francisco Bay but low to very low in more southerly populations. (usda.gov)
  • However, the contribution of these loci to T2D in the Middle Eastern populations with high T2D prevalence is unknown. (wiley.com)
  • A multidimensional scaling plot based on allele frequencies of the six miniSTR loci (D1S1677, D2S441, D4S2364, D10S1248, D14S1434 and D22S1045) showed that Koreans appeared to have most genetic affinity with Chinese and Japanese than to other Eurasian populations compared here. (biomedsearch.com)
  • Cumulatively, these novel loci have a significant impact on risk of CAD at least in European populations. (ahajournals.org)
  • Nucleotide polymorphism at 12 nuclear loci was studied in Scots pine populations across an environmental gradient in Scotland, to evaluate the impacts of demographic history and selection on genetic diversity. (nerc.ac.uk)
  • At eight loci, diversity patterns were compared between Scottish and continental European populations. (nerc.ac.uk)
  • At these loci, a similar level of diversity (θsil=~0.01) was found in Scottish vs mainland European populations, contrary to expectations for recent colonization, however, less rapid decay of linkage disequilibrium was observed in the former (ρ=0.0086±0.0009, ρ=0.0245±0.0022, respectively). (nerc.ac.uk)
  • Predicting the genetic basis of evolution requires a comprehensive synthesis of molecular developmental biology and population genetics. (nih.gov)
  • In the same issue of Nature Genetics, GIANT scientists publish an article describing major sex differences in how genetic factors affect the distribution of body fat. (healthcanal.com)
  • Genetic Counseling Visit with a genetics expert to determine cancer risk for you and your loved ones. (osu.edu)
  • Twin studies suggest that about one-third of the risk is due to genetic factors, independent of other known erectile dysfunction risk factors. (pnas.org)
  • As a result, there are no confirmed genetic risk factors for erectile dysfunction. (pnas.org)
  • Here, we investigated the association of 38 T2D risk loci in the Saudi Arabian population (1166 patients with T2D and 1235 healthy controls), which has one of the world's highest prevalence of T2D. (wiley.com)
  • Genetic markers of pigmentation are novel risk loci for uveal melanoma. (osu.edu)
  • Background- Combined analysis of 2 genome-wide association studies in cases enriched for family history recently identified 7 loci (on 1p13.3, 1q41, 2q36.3, 6q25.1, 9p21, 10q11.21, and 15q22.33) that may affect risk of coronary artery disease (CAD). (ahajournals.org)
  • Furthermore, the effect of these loci on CAD risk in a broader range of individuals remains to be determined. (ahajournals.org)
  • Methods and Results- We undertook association analysis of single nucleotide polymorphisms at each locus with CAD risk in 11 550 cases and 11 205 controls from 9 European studies. (ahajournals.org)
  • There were no other strong interactions of any of the loci with other traditional risk factors. (ahajournals.org)
  • The loci at 9p21, 1p13.3, 2q36.3, and 10q11.21 acted independently and cumulatively increased CAD risk by 15% (12% to 18%), per additional risk allele. (ahajournals.org)
  • Conclusions The findings provide strong evidence for association between at least 4 genetic loci and CAD risk. (ahajournals.org)
  • 1 However, well-powered genome-wide association (GWA) studies have now identified several novel putative loci that increase risk of CAD and MI. (ahajournals.org)
  • Beyond these initial studies on the loci at 9p21.3 and 1p13.3, the reproducibility of the association with CAD risk of the other loci identified by GWA studies has not yet been studied systematically. (ahajournals.org)
  • 5 Here, in one of the largest molecular-genetic experiments on CAD, we report the replication analysis of the 7 principal loci for CAD identified thus far in GWA studies, 2-5 in a broader group of CAD patients, explore their interactions with traditional risk factors, and assess their cumulative impact on CAD risk. (ahajournals.org)
  • Studies have evaluated the risks for diabetes associated with comorbid conditions or behavioral factors (conventional risk factors) (2) and with some genetic loci (3, 4) . (annals.org)
  • Cornelis and colleagues presented combined effects of conventional risk factors and genetic loci for the first time. (annals.org)
  • These loci did not improve AD risk prediction. (natap.org)
  • Finally, we used 2 large, prospective, population-based studies to assess the improvement in incident AD risk prediction conferred by the recently described loci. (natap.org)
  • We investigated whether a multi-locus genetic risk score (GRS) for AAA was associated with presence and progression of AAA in a case-control study. (ahajournals.org)
  • Our analysis also suggests a relationship between genetic risk, visual acuity and vision health related quality of life. (arvojournals.org)
  • We quantified the difference in genetic risk between each given disease at each locus, and also calculated genetic risk scores to quantify how genetic liability to T1D and T2D distinguished LADA cases from controls. (biomedcentral.com)
  • Contrary to previous studies, the key T2D risk allele at TCF7L2 (rs7903146-T) had a significantly lower frequency in LADA cases, suggesting that this locus does not play a role in LADA etiology. (biomedcentral.com)
  • Furthermore, T2D genetic risk plays a small role in LADA, with a degree of evidence for the HNF1A locus, highlighting the potential for genetic risk scores to contribute towards defining diabetes subtypes. (biomedcentral.com)
  • Individuals with a high genetic risk score had, besides an increased risk of TPOAb-positivity (OR: 2.18, 95% CI 1.68-2.81, P = 8.1×10-8), a higher risk of increased thyroid-stimulating hormone levels (OR: 1.51, 95% CI 1.26-1.82, P = 2.9×10-6), as well as a decreased risk of goiter (OR: 0.77, 95% CI 0.66-0.89, P = 6.5×10-4). (eur.nl)
  • We previously reported that high mutagen sensitivity measured by an in vitro lymphocytic assay, reflecting constitutional genetic instability, was associated with increased risk of SPT/recurrence ( 10 , 11 ). (aacrjournals.org)
  • To investigate the genetic contribution to CNV, we have undertaken an interval mapping approach to identify QTLs that influence laser-induced CNV in the BXD mice. (arvojournals.org)
  • A multi-locus GRS was associated with presence of AAA and aneurysm growth, suggesting genetic predisposition to disease initiation and progression. (ahajournals.org)
  • 2-5 Specifically, combined analysis of the Wellcome Trust Case Control Consortium (WTCCC) and the German MI Family GWA studies identified 7 chromosomal loci (on 1p13.3, 1q41, 2q36.3, 6.q25.1, 9p21.3, 10q11.21, and 15q22.33), all of which showed highly significant associations with CAD. (ahajournals.org)
  • Jung JY, Kim EH, Oh Y-L, Park HC, Hwang JH, Lim SK (2017) Evaluation of forensic genetic parameters of 12 STR loci in the Korean population using the Investigator® HDplex kit. (springer.com)
  • In this study, we wanted to discover whether these genetic loci are associated with particular MacTel clinical phenotypes. (arvojournals.org)
  • Our results show that the set of complex phenotypes in MacTel can be dissected by the genetic loci, partitioning both the genetic and diagnostic aetiologies. (arvojournals.org)
  • As case-control studies of heterogeneous diseases reach a limit of feasibility with respect to subject number and detectable effect size, the study of informative pathogenic sub-phenotypes becomes an attractive strategy for genetic discovery in complex disease. (ovid.com)
  • The role and degree of locus heterogeneity is an important consideration in understanding disease phenotypes and in the development of therapeutic treatment for these diseases. (wikipedia.org)
  • Metalaxyl insensitivity was also affected by the segregation of additional loci of minor effect. (apsnet.org)
  • We reasoned that the inclusion of additional cases and controls could increase the statistical power for genome-wide association, potentially yielding novel loci that could provide insight into the molecular mechanisms of PSP and other more common tauopathies. (springer.com)
  • During the past few years there has been considerable progress in this regard, especially in the molecular, genetic and genomic aspects. (aber.ac.uk)
  • ORCID: 0000-0003-3201-395X 2019 , 'Genetic and molecular analysis of two new loci controlling flowering in garden pea', PhD thesis, University of Tasmania. (edu.au)
  • By studying the linkage relationships between these markers and the insensitivity in each cross by RAPD or restriction fragment length polymorphism analysis, it appeared that the same chromosomal locus conferred insensitivity in the Mexican and Dutch isolates. (apsnet.org)
  • The objective of this research was to use single-nucleotide polymorphism (SNP) anchor markers to construct an integrated genetic map for C. lanatus. (ebscohost.com)
  • Of these, 17 markers were in common, which suggests that initial sensitivity and tolerance share substantial genetic codetermination. (aspetjournals.org)
  • Furthermore, incorporation of these genetic markers into a multivariate model improved significantly the discriminatory ability over the models containing only clinical and epidemiologic variables. (aacrjournals.org)
  • Loci for resistance to several antibiotics in laboratory-derived strains of Neisseria gonorrhoeae were mapped by genetic transformation. (asm.org)
  • We constructed a highly fertile isogenic pair of A. fumigatus strains with opposite mating types and used them to investigate whether mating type is associated with virulence and to find the genetic loci involved in azole resistance. (sigmaaldrich.com)
  • Is the Subject Area "Genetic polymorphism" applicable to this article? (plos.org)
  • The combined probability of match calculated from the 18 miniSTR loci was 2.902 × 10(-17), indicating a high degree of polymorphism. (biomedsearch.com)
  • Derdakova M , Beati L , Pet'ko B , Stanko M , Fish D . Genetic variability within Borrelia burgdorferi sensu lato genospecies established by PCR-single-strand conformation polymorphism analysis of the rrfA-rrlB intergenic spacer in Ixodes ricinus ticks from the Czech Republic. (cdc.gov)
  • Amplified fragment length polymorphism and bulked DNA templates from resistant and susceptible plants were used to define a 2.6-cM interval containing the Bs4 locus. (apsnet.org)
  • Resistance to T. cruzi infection in humans as well as mice may vary according to the genetic background of the host and the virulence of the parasite strain [ 23 , 24 ]. (hindawi.com)
  • The current model predicts that phytopathogenic isolates require a cluster of three loci present on a linear plasmid, with the fas operon central to virulence. (oregonstate.edu)
  • Horizontal gene transfer was identified as critical but limited in the scale of virulence evolution, as few loci are conserved and exclusive to phytopathogenic isolates. (oregonstate.edu)
  • CONCLUSIONS Novel fasting glucose loci identified in genome-wide association studies of adults are associated with altered fasting glucose levels in healthy children and adolescents with effect sizes comparable to adults. (diabetesjournals.org)
  • Conclusions - Two genetic loci for AD were found for the first time to reach genome-wide statistical significance. (natap.org)
  • CONCLUSIONS-Genetic loci identified through their effect on hyperglycemia and/or hyperinsulinemia demonstrate considerable heterogeneity in associations with measures of insulin processing, secretion, and sensitivity. (lu.se)
  • Conclusions The integrated map described herein enhances the utility of genomic tools over previous watermelon genetic maps. (ebscohost.com)
  • NEW YORK (GenomeWeb) - The genetic loci that influence age-related epigenetic marks in the human brain may overlap with parts of the genome uncovered in several past disease studies, according to a new study. (genomeweb.com)
  • With the help of a diploid genetic mapping population two genetic loci that were strongly associated with differences in Φ PSII were identified. (wur.nl)
  • Results Under the framework of the high density genetic map, an integrated genetic map was constructed by merging data from four independent mapping experiments using a genetically diverse array of parental lines, which included three subspecies of watermelon. (ebscohost.com)
  • Genetic Mapping and Functional Analysis of the Tomato Bs4 Locus Governing Recognition of the Xanthomonas campestris pv. (apsnet.org)
  • 5 × 10 − 8 , including replication of 3 loci from previous studies and 2 novel loci at 6p21.1 and 12p12.1 (near RUNX2 and SLCO1A2 , respectively). (springer.com)
  • Apart from the 9p21 locus, the other loci await substantive replication. (ahajournals.org)
  • Cmv-1, a genetic locus that controls murine cytomegalovirus replication in the spleen. (rupress.org)
  • Although there is a similar hierarchy of resistance to MCMV and HSV-1 with respect to the C57BL and BALB genetic backgrounds, the strain distribution pattern of HSV-1 replication in recombinant inbred mice suggests that Cmv-1 is not involved in restricting the spread of this virus. (rupress.org)
  • To study genetic heterogeneity in SLE, we performed a case - case study comparing patients with high vs low IFN-α in over 1550 SLE cases, including genome-wide association study and replication cohorts. (ovid.com)
  • Except for dominantly based on DNA sequences of either of 2 ge- ospC D3 and Oa, novel polymorphisms were confi rmed in netic loci: 1) the plasmid-borne, highly polymorphic outer at least 1 other sample. (cdc.gov)
  • However, at least 13 of the 20 primer pairs developed amplify polymorphic loci. (unl.edu)
  • Paternity for 2 individuals sharing the same mother and 5 potential fathers was established by investigating 6 polymorphic loci. (unl.edu)
  • Our results mean that we can now target the remaining loci on the genetic maps with deep sequencing to try and find the causal mutations within them. (ucl.ac.uk)
  • We tested four causal models: (1) independent associations, (2) CpG mediating the association of a variant, (3) reverse causality, and (4) genetic variant by CpG interaction. (harvard.edu)
  • Two loci, associated with occipital (6q22.32) and temporal lobe volume (12q14.3), were previously reported to associate with intracranial and hippocampal volume, respectively. (eur.nl)
  • We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. (nih.gov)
  • We conducted a large-scale genome-wide association study of erectile dysfunction in 36,649 men in the multiethnic Kaiser Permanente Northern California Genetic Epidemiology Research in Adult Health and Aging cohort. (pnas.org)
  • Here we use outbred mice to investigate the genetic architecture of canalization of the skull shape by implementing a genome-wide marginal epistatic test on 3D geometric morphometric data. (frontiersin.org)
  • Moreover, we sought to replicate genome-wide significant loci, from both the current analysis and previous reports, in an independent case-control population. (natap.org)
  • Qiu WG , Schutzer SE , Bruno JF , Attie O , Xu Y , Dunn JJ , Genetic exchange and plasmid transfers in Borrelia burgdorferi sensu stricto revealed by three-way genome comparisons and multilocus sequence typing. (cdc.gov)
  • Historically, we carried out a genome-wide association study and discovered the first five genetic loci involved in this disease. (arvojournals.org)
  • Cis-regulatory mutations currently represent approximately 22% of 331 identified genetic changes although the number of cis-regulatory changes published annually is rapidly increasing. (nih.gov)
  • Genetic interactions between spontaneous mutations affecting bristle number and the candidate locus mutations were common, and in several cases the interaction effects were different in males and females. (genetics.org)
  • Genetically, the interactions could be caused by allelism of, and/or epistasis between, spontaneous mutations in the selection lines and the candidate locus mutations. (genetics.org)
  • Here we report finding in EPEC a 35-kbp locus containing several regions implicated in formation of these lesions. (pnas.org)
  • DNA probes throughout this locus hybridize to E. coli O157:H7 and other pathogens of three genera that cause similar lesions but do not hybridize to avirulent members of the same species. (pnas.org)
  • We hypothesized that the genetic determinants of the insulin resistance syndrome might also predispose genetically obese mice to severe diabetes. (diabetesjournals.org)
  • Also, a locus for high-level resistance to rifampin ( rif ) was linked to str and tet . (asm.org)
  • Loci for resistance to other antibiotics (penicillin, erythromycin) were transferred independently of each other and were not linked to the cluster around str . (asm.org)
  • In order to identify genetic loci that are associated with this particular resistance phenotype, we employed a Tn 5 -OT182 mutagenesis system in coordination with a replica plating screen to isolate polymyxin B-susceptible mutants. (pubmedcentralcanada.ca)
  • Isogenic mutants were also constructed via allelic exchange and used in complementation analysis studies to further characterize the relative importance of each of the various genetic loci with respect to the polymyxin B resistance phenotype exhibited by B. pseudomallei 1026b. (pubmedcentralcanada.ca)
  • Similar linkage relationships were found with str, tet, chl , and spc loci obtained from naturally occurring (clinical) isolates of N. gonorrhoeae . (asm.org)
  • Locus Biosciences is a clinical-stage pharmaceutical company, founded in 2015 and based in Research Triangle Park, North Carolina which to develop phage therapies based on CRISPR-Cas3 gene editing technology, as opposed to the more commonly used CRISPR-Case9, delivered by engineered bacteriophages. (wikipedia.org)
  • We estimate that the 32 loci that we've found, together account for two to four per cent of the genetic causes of obesity, so much remains to be discovered," says Professor Ingelsson. (healthcanal.com)
  • When we confi ned analysis to samples from northeast- the summers of 2004, 2005, 2006, and 2007, as described ern states, we confi rmed linkage disequilibrium between ospC and IGS1 loci ( 7 , 10 , 14 ). (cdc.gov)
  • This is a proof of principle that genetic analysis for Φ PSII can be done on potato. (wur.nl)
  • Each study conducted linear regression analysis using an additive genetic model. (ahajournals.org)
  • Enlow, Thomas C. 1983-07-01 00:00:00 GENETIC AND DEVELOPMENTAL ANALYSIS OF THE LOCUS vnd IN DROSOPHILA MELANOGASTER Kalpana White 1 , Normand L. DeCelles 1 , and Thomas C. Enlow 1 1 Department of Biology, Brandeis University, Waltham, Massachusetts 02254 Genetic and developmental analysis of an X-linked vital locus vnd was undertaken. (deepdyve.com)
  • The developmental analysis in gynandromorphic genetic mosaics shows that (1) vnd + gene function is not essential in most imaginal-disc cell derivatives, (2) only about 30% of the mosaic zygotes survive as adults, (3) mosaic zygotes with mutant tissue close to the head cuticle are least likely to survive, and (4) mutant tissue in the thoracic ganglion in the adult is not necessarily lethal. (deepdyve.com)
  • Differences in gene expression at the Gtl2 locus have also been linked to fetal alcohol exposure disorder. (eurekalert.org)
  • In nondiabetic adults, fasting glucose changes little over time, and our results suggest that age-independent effects of fasting glucose loci contribute to long-term interindividual differences in glucose levels from childhood onwards. (diabetesjournals.org)
  • To evaluate the contribution of genetic factors to population differences in breast cancer subtype, we also examined global percent African ancestry. (aacrjournals.org)
  • A total of 344 unrelated Japanese adults were genotyped to determine allele frequencies and evaluate forensic parameters for 10 autosomal supplementary non-CODIS loci and 2 autosomal CODIS loci using an Investigator® HDplex Kit for complex relationship testing. (springer.com)
  • RESULTS Nine loci were associated with glucose levels in healthy children and adolescents, with four of these associations reported in previous studies and five reported here for the first time ( GLIS3 , PROX1 , SLC2A2 , ADCY5 , and CRY2 ). (diabetesjournals.org)
  • The latter two loci were replicated in 2,261 individuals from the UK and in 1,282 from Australia. (prolekare.cz)
  • The discovery sample set included participants of three Rotterdam Study (RS) cohorts (RS1, RS2, and RS3) with a total of 5,951 Dutch European individuals after quality control of genetic and phenotypic data ( Table 1 ). (prolekare.cz)
  • Therefore, identifying the critical genetic factors that affect sepsis patient outcome will help us to unravel genetic mechanisms that determine sepsis heterogeneity. (frontiersin.org)
  • Number of tick extracts with the listed IGS1 locus (numerator)/number of extracts with the listed ospC allele (denominator). (cdc.gov)
  • Locus heterogeneity and allelic heterogeneity are the two components of genetic heterogeneity. (wikipedia.org)
  • Locus heterogeneity may have major implications for a number of human diseases. (wikipedia.org)