Expressive

rs12199775 - PHACTR2

Magnitude 2.2 · 2 studies on file

Reported associations

  • 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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