GenesSNPsVariants2023Identified a region on chromosomeIncrease the susceptibilityQuantitative traiType 1 diabetLinkageTumorGenotypeSingle nucleotide poGenome-wideMappingMammary cancerEvidenceResistanceAnthraceneAutoimmune DiseasesCancerAlzheimer'sPhenotypeAllelePutativeGenomewideHeterozygousRegionDiseaseIdentificationAllelicAllelesCharacterizePopulationsPolymorphismMutationRiskRegionsMolecularGenetic factorsAssociationInsulinMarkersCommon
Genes14
- It is now accepted that rare variants located in different genes could in fact play a more important role in disease susceptibility than common variants ( 4 ). (frontiersin.org)
- Genetic studies have repeatedly implicated the DYX2 locus, specifically the genes DCDC2 and KIAA0319 , in RD, with recent studies suggesting they also influence LI, verbal language, and cognition. (springer.com)
- Together, these data suggest that one or more breast cancer-related genes are located within the dominantly acting WKy allele at the Mcs7 locus. (mcw.edu)
- Understanding the host-parasite interactions between pathogen virulence/avirulence genes and the corresponding susceptibility/resistance genes in the host is important for the deployment of genetic resistance against SFNB. (usda.gov)
- The significant linkage of FEV(1)/FVC to chromosome 2q could reflect one or more genes influencing the development of airflow obstruction or dysanapsis. (nih.gov)
- We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
- In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
- Plant breeders typically focus on immune receptors or impaired susceptibility genes to develop resistant crops, but these can present challenges in terms of strength, durability or pleotropic effects. (elifesciences.org)
- Alternatively, susceptibility ( S ) genes provide recessive resistance that can be both broad-spectrum and durable ( 22 - 24 ). (elifesciences.org)
- Genes may influence susceptibility to MS, but results of association studies are inconsistent, aside from the identification of HLA class II haplotypes. (nih.gov)
- Whole-genome linkage screens in MS have both confirmed the importance of the HLA region and uncovered non-HLA loci that may harbor susceptibility genes. (nih.gov)
- In the search for such susceptibility genes, we have performed a genomewide scan in 58 multiplex families (comprising 440 individuals, 229 of whom were affected) from the Botnia region in Finland. (ox.ac.uk)
- Together with data from other published genomewide scans, these findings lend support to the hypothesis that regions on chromosome 9p13-q21 and 12q24 may harbor susceptibility genes for type 2 diabetes. (ox.ac.uk)
- Individual's susceptibility to cancer may be partly explained by variability in enzymatic activities of metabolic genes. (bvsalud.org)
SNPs3
- Here we show that three of these SNPs, mapping to chromosome 10p15 (rs4750316), 12q13 (rs1678542) and 22q13 (rs3218253), are also associated (trend P = 4 x 10(-5), P = 4 x 10(-4) and P = 4 x 10(-4), respectively) in a validation study of 4,106 individuals with rheumatoid arthritis and an expanded reference group of 11,238 subjects, confirming them as true susceptibility loci in individuals of European ancestry. (ox.ac.uk)
- 0.05) associated SNPs--conferred susceptibility to MS: LAG3 on chromosome 12p13, and IL7R on 5p13. (nih.gov)
- These studies are of particular studies aim to identify relevant genetic importance as the knowledge of the susceptibility variants by genotyping up etiology of cancers more prevalent in to 1 000 000 genetic variants (or SNPs). (who.int)
Variants7
- [ 29 ] These data suggest that genetic susceptibility to T2DM as determined by TCF7L2 variants might prove an actionable indicator for early intervention and disease prevention. (medscape.com)
- 240 putative risk variants from 10 chromosomes were subsequently genotyped in both the discovery and validation cohorts. (biomedcentral.com)
- After correction for population structure, gait (trot or pace) and sex, the variants most highly associated with OC status in both populations were located within the chromosome 14 regions of association. (biomedcentral.com)
- Further work is needed to identify the specific variants underlying OC risk within these loci. (biomedcentral.com)
- 10 Germline variants of IKZF1 are observed in familial B-ALL and immunodeficiency, 16 , 17 and somatic IKZF1 alterations are enriched in Philadelphia chromosome (Ph)-positive, Phlike, and DUX4 -rearranged B-ALL. (haematologica.org)
- Ten of sixteen variants previously associated with iron traits generalized to HCHS/SOL, including variants at the transferrin (TF), hemochromatosis (HFE), fatty acid desaturase 2 (FADS2)/myelin regulatory factor (MYRF), transmembrane protease, serine 6 (TMPRSS6), transferrin receptor (TFR2), N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), ABO blood group (ABO), and GRB2 associated binding protein 3 (GAB3) loci. (escholarship.org)
- These 12 variants account for ~25% of what can be currently explained of the familial risk of prostate cancer by known genetic risk factors. (ox.ac.uk)
20234
- 189: 109938, 2023 12. (bvsalud.org)
- 12(18): 19174-19187, 2023 Sep. (bvsalud.org)
- Sex Med 2023 Jan 12;11(1):qfac006. (cancercentrum.se)
- 2023 May;12(9):10840-10850. (cancercentrum.se)
Identified a region on chromosome1
- In the first study Alison Goate of Washington University and her colleagues identified a region on chromosome 10 that appears to contain a risk factor and concluded that the Alzheimer's susceptibility gene in this region could be as influential as the apolipoprotein E (APOE) gene on chromosome 19. (scientificamerican.com)
Increase the susceptibility2
- Fixation of oligosaccharides to a surface may increase the susceptibility to human parainfluenza virus 1, 2, or 3 hemagglutinin-neuraminidase. (ouhsc.edu)
- Adjusted for environmental exposure, including smoking, alcohol, and areca quid, a region in chromosome 12, related to alcohol metabolism, was found to independently increase the susceptibility to OPSCC. (bvsalud.org)
Quantitative trai1
- Previous genome-wide linkage studies in crosses of these strains identified three WKy resistance quantitative trait loci, Mcs5, Mcs6 and Mcs8, and one predicted to increase susceptibility, Mcs7. (mcw.edu)
Type 1 diabet1
- Such patients probably have the same disease process as patients with type 1 diabetes in that they have similar HLA genetic susceptibility as well as autoantibodies to islet antigens, low insulin secretion, and a higher rate of progression to insulin dependency. (diabetesjournals.org)
Linkage9
- TCF7L2 was discovered as a type 2 diabetes susceptibility gene after a strong linkage signal was mapped to chromosome 10q in a Mexican-American population. (medscape.com)
- In the initial genomewide scan, significant evidence for linkage to FEV(1)/FVC was demonstrated on chromosome 2q (LOD score 4.12 at 222 cM). (nih.gov)
- Suggestive evidence was found for linkage to FEV(1)/FVC on chromosomes 1 (LOD score 1.92 at 120 cM) and 17 (LOD score 2.03 at 67 cM) and to FVC on chromosome 1 (LOD score 2.05 at 13 cM). (nih.gov)
- After inclusion of 12 additional STR markers on chromosome 12p, which had been previously genotyped in this population, suggestive evidence for linkage of FEV(1) (LOD score 2.43 at 37 cM) to this region was demonstrated. (nih.gov)
- These observations provide both significant evidence for an early-onset COPD-susceptibility locus on chromosome 2 and suggestive evidence for linkage of spirometry-related phenotypes to several other genomic regions. (nih.gov)
- A linkage analysis with the assumption of an autosomal-dominant mode of inheritance has indicated a chromosome 9p24-22 (RLS-3) linkage to RLS in two large American families. (medscape.com)
- Bivariate linkage scan for reading disability and attention-deficit/hyperactivity disorder localizes pleiotropic loci. (colorado.edu)
- In 1987, a region of linkage with AD was reported on the long arm of chromosome 21, which encompassed a region harboring the β- APP gene, a compelling candidate for AD. (touchneurology.com)
- Initially, linkage between chromosome 12q24 and impaired insulin secretion had been reported, by Mahtani et al. (ox.ac.uk)
Tumor6
- En los casos, se recogió información clínica y se dispone de muestras de tumor fresco o parafinado a través de los biobancos de los hospitales. (isciii.es)
- Tumor multiplicity was significantly higher ( approximately 50%) in DMBA-treated congenics homozygous and heterozygous for the WKy allele at the Mcs7 locus, compared to controls. (mcw.edu)
- It has previously been shown that the Copenhagen (COP) rat contains several genetic loci that contribute to its mammary tumor-resistant phenotype after 7,12-dimethylbenz(a)anthracene (DMBA) administration. (geneweaver.org)
- Fine mapping of this congenic interval using several recombinant lines identified three genetic loci within the Mcs1 congenic region that independently supported a tumor resistance phenotype. (geneweaver.org)
- In rats for which each locus was homozygous for the COP allele, tumor development was reduced by approximately 60% compared with littermate controls. (geneweaver.org)
- Glycine N-methyltransferase tumor susceptibility gene in the benzo(a)pyrene-detoxification pathway. (shengsci.com)
Genotype1
- Genotype relative risk could be estimated to be between 2.4 and 4.8 for persons homozygous at these loci. (neurotransmitter.net)
Single nucleotide po1
- 200,000 single nucleotide polymorphisms, two regions on equine chromosome 14 were associated with OC in the discovery cohort. (biomedcentral.com)
Genome-wide5
- identified six AF susceptibility loci ( PRRX1 , CAV1 , C9orf3 , SYNPO2L , SYNE2 , and HCN4 ) in addition to three previously reported loci ( PITX2 , ZFHX3 , and KCNN3 ) by a genome-wide association study (GWAS) conducted in individuals of European ancestry. (nature.com)
- A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. (ox.ac.uk)
- To identify additional RCC common susceptibility loci, we conducted an independent genome-wide association study (GWAS). (ox.ac.uk)
- Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. (ouhsc.edu)
- We performed a genetic analysis of chromosome 21 exploiting the genome-wide association study data including 6,406 individuals hospitalized for COVID-19 and 902,088 controls with European genetic ancestry. (cdc.gov)
Mapping1
- A recombinant inbred mapping population derived from CIho5791 (S) × Tifang (R) was developed to characterize genetic resistance/susceptibility to the Ptm isolate 13IM8.3, which was collected from Idaho (ID). (usda.gov)
Mammary cancer2
- The Mcs7 quantitative trait locus is associated with an increased susceptibility to mammary cancer in congenic rats and an allele-specific imbalance. (mcw.edu)
- Congenic rats reveal three independent Copenhagen alleles within the Mcs1 quantitative trait locus that confer resistance to mammary cancer. (geneweaver.org)
Evidence5
- Although possession of the ε4 allele of the apolipoprotein E gene appears to be an important biological marker for Alzheimer's disease (AD) susceptibility, strong evidence indicates that at least one additional risk gene exists on chromosome 12. (bmj.com)
- Using either a single affected subject per family or all affected subjects, evidence for excess transmission was found by the Transmission Disequilibrium Test for rs2056202, rs2292813, and a two-locus G*G haplotype. (neurotransmitter.net)
- The third report, in contrast, provides evidence of an Alzheimer's locus in a different area of the chromosome. (scientificamerican.com)
- Confirmation of an association between rs6822844 at the Il2-Il21 region and multiple autoimmune diseases: evidence of a general susceptibility locus. (ouhsc.edu)
- These studies all provided strong evidence of a susceptibility region in chromosome 15, with an extremely consistent measure of effect between the studies (Fig 1). (who.int)
Resistance3
- Quantitative trait locus (QTL) analysis of an F6 recombinant inbred line (RILs) population identified one resistance or susceptibility locus each on chromosome 4H, 6H and 7H. (usda.gov)
- Loci identified in this study will help facilitate the deployment of resistance in barley to SFNB. (usda.gov)
- Wild relatives of crop species are promising sources of natural disease resistance ( 9 - 12 ). (elifesciences.org)
Anthracene1
- The Wistar Kyoto (WKy) rat is resistant to mammary carcinomas induced with 7,12-dimethybenz[a]anthracene (DMBA), whereas the Wistar Furth (WF) strain is susceptible. (mcw.edu)
Autoimmune Diseases1
- Autoimmune diseases tend to cluster in families and in individuals (a person with one autoimmune disease is more likely to get another), which indicates that common mechanisms are involved in disease susceptibility. (cdc.gov)
Cancer8
- The Mcs7 region on rat chromosome 10 (RNO10) is orthologous to human 17q, a common site of genetic aberrations in breast cancer. (mcw.edu)
- Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. (ox.ac.uk)
- Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ancestry to define the overall contribution of germline variation at 8q24 to prostate cancer risk. (ox.ac.uk)
- To our knowledge, this is the first genetic locus associated with both cancer risk and WHR. (ox.ac.uk)
- The identification of these independent loci within the Mcs1 COP allele provide a model of the genetic complexity of cancer. (geneweaver.org)
- As part of an NCI-led initiative to fol ow- chromosomes 5 and 15 up on results from GWA studies of cancer, the TRICL consortium was established and started work in 2010. (who.int)
- Carcinogenesis is a multistep process and individual risk to development of cancer depends not only on environmental factors or extrinsic exposure to carcinogens but also on genetic susceptibility of an individual. (bvsalud.org)
- Polymorphic genotypes of these enzymes may serve as genetic biomarkers for susceptibility to certain malignancies and therefore may help predict individual cancer risk 8 . (bvsalud.org)
Alzheimer's2
- So far, a gene on chromosome 19 and perhaps one on 12 appear to be risk factors for late-onset Alzheimer's. (scientificamerican.com)
- Now, following yesterday's announcement of a potential Alzheimer's vaccine, three separate studies described in the journal Science suggest that chromosome 10 may also house a risk factor. (scientificamerican.com)
Phenotype2
- C) on chromosome 4q25 with atrial fibrillation (AF), but phenotype alterations conferred by this SNP have not been described. (nature.com)
- Here, we establish the independent phenotype conferred by Mcs7 using congenic rats carrying the WKy Mcs7 locus on a WF background. (mcw.edu)
Allele3
- Concerning sporadic AD, it is known that the presence of the ε4 allele of the apolipoprotein E gene is a susceptibility factor. (touchneurology.com)
- To confirm the existence and independent action of this locus and also aid in the identification of the physical location of the Mcs1 gene, congenic lines were generated by transferring the Mcs1 COP allele onto a Wistar Furth (WF) genetic background. (geneweaver.org)
- One of the congenic lines minimally retained the COP allele at D2Mit29 on the centromeric end of chromosome 2 and extended distally to D2Rat201. (geneweaver.org)
Putative1
- The association of putative risk alleles from within the same regions with disease status in two independent populations of Standardbreds suggest that these are true risk loci in this breed, although population-specific risk factors may still exist. (biomedcentral.com)
Genomewide2
Heterozygous1
- PCR-GBS analysis of the F2 individuals revealed one heterozygous locus on the 5H chromosome correlated with high levels of susceptibility, indicating the susceptibility to Ptm isolate 13IM8.3 may be caused by an allelic interaction at this locus. (usda.gov)
Region4
- This region was later fine-mapped in the Icelandic population and confirmed in US and Danish cohorts, where the risk locus was found to be located in intron 3 of the TCF7L2 gene. (medscape.com)
- The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
- Another locus was found in the chromosome 14q13-21 region (RLS-2) in a 30-member, three-generation northern Italian family affected by RLS and PLMS. (medscape.com)
- Michael Hutton and Steven Younkin of the Mayo Clinic in Jacksonville, Fla., led the second study, which pinpointed the same region on chromosome 10. (scientificamerican.com)
Disease1
- This review emphasizes the potential of analysing chromosomal rearrangements as a means to rapidly define candidate disease loci for further investigation. (neurotransmitter.net)
Identification1
- Identification of multiple genetic susceptibility loci in Takayasu arteritis. (ouhsc.edu)
Allelic1
- The higher incidence of ccRCC in male patients may partially be accounted by mono-allelic inactivation of the chromatin remodelling gene, KDM5C on the X chromosome [ 6 ]. (springer.com)
Alleles1
- 0.001) compared with rats carrying zero COP alleles at this locus. (geneweaver.org)
Characterize1
- Here, we characterize the relationship of the DYX2 locus with RD, LI, and IQ. (springer.com)
Populations3
- Here, we describe an association of the 3′-UTR +1073 C/T polymorphism of the OLR1 (oxidised LDL receptor 1) on chromosome 12 with AD in French sporadic (589 cases and 663 controls) and American familial (230 affected sibs and 143 unaffected sibs) populations. (bmj.com)
- Evaluation of these loci in other populations will help determine if they are specific to the Standardbred breed, or to tarsal OC or are universal risk loci for OC. (biomedcentral.com)
- Although familial aggregation and heritability studies suggest a genetic basis, little is known about the genetic susceptibility to PAD, especially in non-European descent populations. (escholarship.org)
Polymorphism1
- A single-nucleotide polymorphism (SNP) array was used to determine genetic loci that increase susceptibility to OPSCC. (bvsalud.org)
Mutation1
- Although mutation- or pathway-directed targeted therapy (e.g., using tyrosine kinase inhibitors to treat Philadelphia chromosome [Ph]-positive and Phlike B-cell-ALL) is currently available for only a minority of children with ALL, many of the newly identified molecular alterations have led to the exploration of approaches targeting deregulated cell pathways. (haematologica.org)
Risk1
- However, the LD structure of the locus suggests that associations within TDP2 , ACOT13 , and C6orf62 are capturing a previously reported risk variant in KIAA0319 . (springer.com)
Regions1
- In OPSCCs (n = 331), two clustered regions in chromosomes 4 and 6 were significantly different from the controls. (bvsalud.org)
Molecular1
- Molecular genetic studies have identified at least three major susceptibility loci in large families from the United States, Canada, Germany, and Italy. (medscape.com)
Genetic factors1
- A number of additional genetic factors contribute to susceptibility for AD and FTLD. (touchneurology.com)
Association1
- To accomplish this, we developed a marker panel densely covering the 1.4 Mb DYX2 locus and assessed association with reading, language, and IQ measures in subjects from the Avon Longitudinal Study of Parents and Children. (springer.com)
Insulin1
- Rudoph E. Tanzi of Harvard Medical School and his colleagues concentrated on chromosome stretches near the gene that makes insulin degrading enzyme, which may also play a role in degrading so-called amyloid beta protein. (scientificamerican.com)
Markers2
- A locus-conferring susceptibility to RLS was mapped in a large French-Canadian family to chromosome 12q13-23 (RLS-1) and connected with a series of adjacent microsatellite markers with an autosomal recessive mode of inheritance. (medscape.com)
- Male carriers were genotyped using microsatellite markers spanning 20-30 cM of the Mcs1 locus. (geneweaver.org)
Common3
- Only two common susceptibility loci for RCC have been confirmed to date. (ox.ac.uk)
- Patients with PID have increased susceptibility to recurrent and persistent infections, but other symptoms are also common. (lu.se)
- However, increased susceptibility to infections is common to all immunodeficiencies. (lu.se)