Expressive

rs11739663 - CEP72-DT

Magnitude 2.2 · 4 studies on file

Reported associations

  • Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance - Unknown journal (n.d.) · Unknown authors · PubMed 31882771

    ABSTRACT: Genetic research of elite athletic performance has been hindered by the complex phenotype and the relatively small effect size of the identified genetic variants. The aims of this study were to identify genetic predisposition to elite athletic performance by investigating genetically-influenced metabolites that discriminate elite athletes from non-elite athletes and to identify those associated with endurance sports. By conducting a genome wide association study with high-resolution metabolomics profiling in 490 elite athletes, common variant metabolic quantitative trait loci (mQTLs) were identified and compared with previously identified mQTLs in non-elite athletes. Among the identified mQTLs, those associated with endurance metabolites were determined. Two novel genetic loci in

  • Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 - Unknown journal (n.d.) · Unknown authors · PubMed 21297633

    ABSTRACT: Genome-wide association studies (GWAS) and candidate gene studies in ulcerative colitis (UC) have identified 18 susceptibility loci. We conducted a meta-analysis of 6 UC GWAS, comprising 6,687 cases and 19,718 controls, and followed-up the top association signals in 9,628 cases and 12,917 controls. We identified 29 additional risk loci (P<5×10-8), increasing the number of UC associated loci to 47. After annotating associated regions using GRAIL, eQTL data and correlations with non-synonymous SNPs, we identified many candidate genes providing potentially important insights into disease pathogenesis, including IL1R2, IL8RA/B, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1. The total number of confirmed inflammatory bowel disease (IBD) risk loci is now 99, including a minimum

  • Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease - Unknown journal (n.d.) · Unknown authors · PubMed 23128233

    ABSTRACT: Crohn's disease (CD) and ulcerative colitis (UC), the two common forms of inflammatory bowel disease (IBD), affect over 2.5 million people of European ancestry with rising prevalence in other populations. Genome-wide association studies (GWAS) and subsequent meta-analyses of CD and UC as separate phenotypes implicated previously unsuspected mechanisms, such as autophagy, in pathogenesis and showed that some IBD loci are shared with other inflammatory diseases. Here we expand knowledge of relevant pathways by undertaking a meta-analysis of CD and UC genome-wide association scans, with validation of significant findings in more than 75,000 cases and controls. We identify 71 new associations, for a total of 163 IBD loci that meet genome-wide significance thresholds. Most loci cont

  • Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations - Unknown journal (n.d.) · Unknown authors · PubMed 26192919

    ABSTRACT: Ulcerative colitis and Crohn's disease are the two main forms of inflammatory bowel disease (IBD). Here, we report the first trans-ethnic association study of IBD, with genome-wide or Immunochip genotype data from an extended cohort of 86,640 European individuals and Immunochip data from 9,846 individuals of East-Asian, Indian or Iranian descent. We implicate 38 loci in IBD risk for the first time. For the majority of IBD risk loci, the direction and magnitude of effect is consistent in European and non-European cohorts. Nevertheless, we observe genetic heterogeneity between divergent populations at several established risk loci driven by a combination of differences in allele frequencies (NOD2), effect sizes (TNFSF15, ATG16L1) or a combination of both (IL23R, IRGM). Our result

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