Expressive

rs11742570 - RNU1-150P - TTC33

Magnitude 2.2 · 5 studies on file

Reported associations

  • A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. - Gut (2013) · Julià A, Domènech E, Ricart E, Tortosa R, García-Sánchez V, Gisbert JP, Nos Mateu P, Gutiérrez A, Gomollón F, Mendoza JL, Garcia-Planella E, Barreiro-de Acosta M, Muñoz F, Vera M, Saro C, Esteve M, Andreu M, Alonso A, López-Lasanta M, Codó L, Gelpí JL, García-Montero AC, Bertranpetit J, Absher D, Panés J, Marsal S · PubMed 22936669

    Genome-wide association studies (GWAS) have identified multiple risk loci for Crohn's disease (CD). However, the cumulative risk exerted by these loci is low, and the likelihood that additional, as-yet undiscovered loci contribute to the risk of CD is very high. We performed a GWAS on a southern European population to identify new CD risk loci. We genotyped 620 901 genome markers on 1341 CD patients and 1518 controls from Spain. The top association signals representing new candidate risk loci were subsequently analysed in an independent replication cohort of 1365 CD patients and 1396 controls. We identified a genome-wide significant association on chromosome 22q13.2 in the intergenic region between the RBX1 and EP300 genes (single nucleotide polymorphism rs4820425, OR 1.27, 95% CI 1.17 to

  • 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

  • Meta-Analysis Increases to 71 the Tally of Confirmed Crohn's Disease Susceptibility Loci - Unknown journal (n.d.) · Unknown authors · PubMed 21102463

    [INTRO] We undertook a meta-analysis of six Crohn's disease (CD) genome-wide association studies (GWAS) comprising 6,333 cases and 15,056 controls, and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent/offspring trios. Thirty new susceptibility loci meeting genome-wide significance (P-value <5×10−8) were identified. A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3a, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, the results described here identify a total of 71 distinct loci with genome-wide significant evidence for association with Crohn's disease. [INTRO

  • 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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