DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Inflammatory bowel disease. The EFO term inflammatory bowel disease was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: inflammatory bowel disease

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

RH Duerr, KD Taylor, SR Brant, JD Rioux, MS Silverberg, MJ Daly, AH Steinhart, C Abraham, M Regueiro, A Griffiths, T Dassopoulos, A Bitton, H Yang, S Targan, LW Datta, EO Kistner, LP Schumm, AT Lee, PK Gregersen, MM Barmada, JI Rotter, DL Nicolae, JH Cho

TITLE:

A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.

JOURNAL:

Science (New York, N.Y.) Dec 2006, Vol 314, pp. 1461-3

ABSTRACT:

The inflammatory bowel diseases Crohn's disease and ulcerative colitis are common, chronic disorders that cause abdominal pain, diarrhea, and gastrointestinal bleeding. To identify genetic factors that might contribute to these disorders, we performed a genome-wide association study. We found a highly significant association between Crohn's disease and the IL23R gene on chromosome 1p31, which encodes a subunit of the receptor for the proinflammatory cytokine interleukin-23. An uncommon coding variant (rs11209026, c.1142G>A, p.Arg381Gln) confers strong protection against Crohn's disease, and additional noncoding IL23R variants are independently associated. Replication studies confirmed IL23R associations in independent cohorts of patients with Crohn's disease or ulcerative colitis. These results and previous studies on the proinflammatory role of IL-23 prioritize this signaling pathway as a therapeutic target in inflammatory bowel disease. PUBMED: 17068223
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