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  • CDKN2B
  • We have previously demonstrated that loss of one candidate gene at this locus, cyclin-dependent kinase inhibitor 2B (Cdkn2b), in mice promotes vascular SMC apoptosis and aneurysm progression. (jci.org)
  • Furthermore, human carriers of the 9p21 risk allele had reduced expression of CDKN2B in atherosclerotic plaques, which was associated with impaired expression of calreticulin, a ligand required for activation of engulfment receptors on phagocytic cells. (jci.org)
  • genes
  • We compared expression quantitative trait loci (eQTL) associations for the genes with association findings for the same SNPs for CAD in the Wellcome Trust Case Control Consortium study. (bmj.com)
  • Conclusions Our findings in monocytes do not support the hypothesis that the chromosome 9p21 locus mediates CAD risk by affecting expression of the genes at the locus. (bmj.com)
  • Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus. (nih.gov)
  • More than 65 loci , encoding up to 500 different genes, have been implicated by genome-wide association studies (GWAS) as conferring an increased risk of developing type 2 diabetes (T2D). (hindawi.com)
  • Molecular techniques, including linkage and genome-wide analysis, have identified candidate genes located near known loci related to development and regulation of the female reproductive tract. (biomedcentral.com)
  • Of the 3 billion chemical bases comprising the 46 human chromosomes, approximately 30,000 genes have been mapped. (biomedcentral.com)
  • The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. (nih.gov)
  • strongest
  • Methods and Results- We genotyped 2277 individuals, age 24 to 39 years, from the Cardiovascular Risk in Young Finns Study with CIMT and FMD measurements and 1295 individuals, age 46 to 76 years, from the Health 2000 Survey with CIMT for rs1333049, the chromosome 9p21 variant showing the strongest association with CAD. (le.ac.uk)
  • Smoking modifies the effect of the top single-nucleotide polymorphism (SNP) rs4977574 at the chromosome 9p21 locus, which is the strongest CHD associated locus. (pace-cme.org)
  • novel
  • Although genetic factors underlying traditional risk factors are well known, 2 new data emerging from genome-wide association studies are revealing novel loci mediating disease susceptibility independent of traditional factors. (ahajournals.org)
  • We sought to confirm previously reported loci, to identify novel risk factors, and to evaluate the contribution of these factors to familial and sporadic IA. (pubmedcentralcanada.ca)
  • Conclusion- This initial multi-ethnic high-density association study of carotid IMT suggests some novel loci requiring further evaluation in follow-up studies. (ahajournals.org)
  • Cumulatively, these novel loci have a significant impact on risk of CAD at least in European populations. (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)
  • risk
  • Finally, there was no significant association between 9p21 and prevalent MI when both cases (n = 17,791) and control subjects (n = 15,882) had underlying CAD (OR: 0.99, 95% CI: 0.95 to 1.03)/risk allele. (ox.ac.uk)
  • Furthermore, the effect of these loci on CAD risk in a broader range of individuals remains to be determined. (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)
  • 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)
  • 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)
  • 1p13.3
  • 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)
  • association
  • RESULTS: We first confirmed an association between 9p21 and CAD with angiographically defined cases and control subjects (pooled odds ratio [OR]: 1.31, 95% confidence interval [CI]: 1.20 to 1.43). (ox.ac.uk)
  • Similarly, there was no association of the locus with variation in FMD in the Young Finns cohort (P=0.521). (le.ac.uk)
  • Gene Expression
  • We describe how circRNAs impact gene expression of their host gene locus by affecting transcriptional initiation and elongation or splicing, and how they partake in controlling the function of other molecules, for example by interacting with microRNAs and proteins. (springer.com)
  • unclear
  • however, it is unclear how or which proteins encoded at this locus contribute to disease. (jci.org)
  • genome-wide
  • Genome-wide significant loci: how important are they? (springer.com)
  • Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. (springer.com)
  • Human
  • Tylosis esophageal cancer locus on chromosome 17q25.1 is commonly deleted in sporadic human esophageal cancer. (nih.gov)
  • Infrequent mutation of the human envoplakin gene is closely linked to the tylosis oesophageal cancer locus in sporadic oesophageal squamous cell carcinomas. (nih.gov)
  • Here, we show that, in addition to INK4A, ARF strongly regulates melanocyte proliferation, underscoring the detrimental impact of loss of the INK4A-ARF locus so characteristic of human melanoma ( 1 ). (pnas.org)
  • proteins
  • Rapid evolution drives both INK4a and ARF proteins out of sync with other members of the RB and p53 tumor suppressor pathways, both of which are controlled by the locus. (nih.gov)
  • mice
  • One of the earliest examples is the sex determining region of Chr Y ( Sry ) gene in mice, the Y chromosome encoded master regulator of the testis-determining pathway 7 . (nature.com)
  • interaction
  • The 10q11.21 locus showed a possible sex interaction ( P =0.015), with a significant effect in women (OR=1.29 [1.15 to 1. P =1.86×10 −5 ) but not men (OR=1.03 [0.96 to 1. P =0.387). (ahajournals.org)