rs10797432 - TNFRSF14 - PRXL2B

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease - Unknown journal (n.d.) · Unknown authors · PubMed 28067908

    ABSTRACT: Genetic association studies have identified 215 risk loci for inflammatory bowel disease, which have revealed fundamental aspects of its molecular biology. We performed a genome-wide association study of 25,305 individuals, and meta-analyzed with published summary statistics, yielding a total sample size of 59,957 subjects. We identified 25 new loci, three of which contain integrin genes that encode proteins in pathways identified as important therapeutic targets in inflammatory bowel disease. The associated variants are correlated with expression changes in response to immune stimulus at two of these genes (ITGA4, ITGB8) and at previously implicated loci (ITGAL, ICAM1). In all four cases, the expression increasing allele also increases disease risk. We also identified likely cau

  • 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


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Screening

  • Ulcerative colitis genetic risk and screening strategy Moderate

    Variant rs10797432 in the TNFRSF14 locus is strongly associated with increased ulcerative colitis susceptibility in European ancestry populations, with each C risk allele increasing UC odds by approximately 7.8 percent

    Discuss personal and family history of inflammatory bowel disease and establish appropriate baseline evaluation and monitoring with healthcare provider