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  • SNPs
  • In INTERHEART, 4 SNPs (rs10757274, rs2383206, rs10757278, rs1333049) from the Chromosome 9p21 region were selected on the basis of previous results from genome-wide association studies for coronary heart disease/MI. (ahajournals.org)
  • In INTERHEART, the authors tested for interactions between 9p21 SNPs and physical activity, smoking, and previously defined diet variables by including the main effects of the SNP and the environmental variable (physical activity, smoking, or diet) in addition to the interaction term in the model. (ahajournals.org)
  • The authors found that the 4 9p21 SNPs were associated with MI in the combined sample that included all ethnicities, with odds ratios (Ors) ranging from 1.18-1.20 and probability values ranging from 1.85×10 to 8-5.21×10-7. (ahajournals.org)
  • All three SNPs are located within a 190-kb linkage disequilibrium (LD) block on chromosome 9p21 (fig. S2). (sciencemag.org)
  • Large-scale GWAS have been conducted and reported common single nucleotide polymorphisms (SNPs) on chromosome 9p21.3for MI and coronary artery disease in European ancestry [ 2 , 3 ]. (mdpi.com)
  • Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression. (snpedia.com)
  • The deCODE MI™ test detects two SNPs located on chromosome 9p21, discovered by deCODE and which various genome-wide association studies have confirmed as the highest impact genetic risk factor for heart attack and coronary artery disease identified to date. (decode.com)
  • The deCODE AF™ test identifies two SNPs discovered by deCODE on chromosome 4, which are associated with a predisposition to atrial fibrillation (AF), the most common cardiac arrhythmia and the leading cause of cardiogenic stroke. (decode.com)
  • rs1333049
  • Inclusion of rs1333049 into the GRACE risk score significantly improved classification for recurrent MI or cardiac death (P = 0.040), as calculated by the integrated discrimination improvement method.In this large observational study, the 9p21 variant was independently associated with adverse cardiac outcome after ACS. (ugent.be)
  • single nucleotide p
  • PMID 20395613 ] Confirmation of an association of single-nucleotide polymorphism rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients. (snpedia.com)
  • sequence
  • Initial studies into lncRNA conservation noted that as a class, they were enriched for conserved sequence elements, depleted in substitution and insertion/deletion rates and depleted in rare frequency variants, indicative of purifying selection maintaining lncRNA function. (wikipedia.org)
  • Sequence variants associating with urinary biomarkers. (decode.com)
  • chromosomal
  • Chromosomal inversions allow genetic divergence of locally adapted populations by reducing recombination between chromosomes with different arrangements. (biomedsearch.com)
  • 3-6 To further elucidate the role of this chromosomal locus in the molecular genetics of CAD, we investigated variants at this locus in 7 additional European studies and undertook a meta-analysis of all studies published to date. (ahajournals.org)
  • common
  • The authors state that observed variation in the effect of genetic factors in different populations may be partly attributed to varying levels of environmental exposures (eg, physical activity, smoking, and diet) and that gene-environment interaction studies may contribute to explaining some of the phenotypic variance that is not accounted for by common variants. (ahajournals.org)
  • A common variant of the p16(INK4a) genetic region is associated with physical function in older people. (snpedia.com)
  • The development of high-density genotyping arrays now provides improved resolution for an unbiased genome-wide assessment of common variants associated with common diseases. (ahajournals.org)
  • Orlando, Florida, November 4-7, 2007 - At this year's Scientific Sessions of the American Heart Association, deCODE genetics (Nasdaq:DCGN) is presenting its newly launched DNA-based risk diagnostic tests deCODE MI™ and deCODEAF™ -which measure common genetic variants associated with clinically relevant increases in risk of heart attack and atrial fibrillation/stroke, respectively. (decode.com)
  • DNA sequencing will meet the challenge of elucidating the genetic predisposition for common polygenic diseases, especially in determining the function of the novel common genetic risk variants and identifying the rare variants, which may also partially ascertain the source of the missing heritability. (onlinejacc.org)
  • Genetic variants that are associated with common human diseases do not lead directly to disease, but instead act on intermediate, molecular phenotypes that in turn induce changes in higher-order disease traits. (pubmedcentralcanada.ca)
  • populations
  • 1 They further state that the interaction of the 9p21 locus with environmental factors has not been extensively explored and that prior studies have been plagued by small sample sizes and limited to single environmentally homogenous populations of European origin. (ahajournals.org)
  • Gene
  • Therefore, they hypothesized that testing the effects of 9p21 and environmental factors related to MI in individuals of different ethnicities may increase the ability to discover gene-environment interactions. (ahajournals.org)
  • indicative
  • Published studies by independent researchers have demonstrated that the variant tested by deCODE T2™ is also indicative of responsiveness to certain drugs. (decode.com)
  • previously
  • For example, 3012 out of 8961 cDNAs previously annotated as truncated coding sequences within FANTOM2 were later designated as genuine ncRNA variants of protein-coding cDNAs. (wikipedia.org)
  • studies
  • In these studies, the variant is associated with a poor response to treatment with sulfony lureas, while metformin was shown to be effective both for the treatment of diabetes and for reducing conversion rate from prediabetes to diabetes 5,6. (decode.com)