期刊
SCIENCE
卷 314, 期 5804, 页码 1461-1463出版社
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1135245
关键词
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资金
- NIDDK NIH HHS [U01 DK062431, U01 DK062420, DK62423, DK62432, P30 DK063491-049004, U01 DK062423, P30 DK063491-019004, P30 DK063491-029004, DK62422, U01 DK062422, P30 DK063491, DK62420, DK62429, P30 DK063491-039004, U01 DK062429, U01 DK062413, DK62431, U01 DK062432, DK62413] Funding Source: Medline
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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