A genome-wide association study identifies IL23R as an inflammatory bowel disease gene |
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| Authors: | Duerr Richard H Taylor Kent D Brant Steven R Rioux John D Silverberg Mark S Daly Mark J Steinhart A Hillary Abraham Clara Regueiro Miguel Griffiths Anne Dassopoulos Themistocles Bitton Alain Yang Huiying Targan Stephan Datta Lisa Wu Kistner Emily O Schumm L Philip Lee Annette T Gregersen Peter K Barmada M Michael Rotter Jerome I Nicolae Dan L Cho Judy H |
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| Institution: | Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, University of Pittsburgh Medical Center Presbyterian, Mezzanine Level, C-Wing, 200 Lothrop Street, Pittsburgh, PA 15213, USA. |
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| 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. |
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