A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene
Cedars-Sinai Medical Center · Johns Hopkins University · +2 more institutions
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…
Citation impact
- FWCI
- 93.65
- Percentile
- 100%
- References
- 30
Authors
23- RHRichard H. Duerr
Cedars-Sinai Medical Center, Johns Hopkins University, University of Pittsburgh, UPMC Presbyterian
- KDKent D. Taylor
Cedars-Sinai Medical Center, Johns Hopkins University, University of Pittsburgh, UPMC Presbyterian
- SRSteven R. Brant
Cedars-Sinai Medical Center, Johns Hopkins University, University of Pittsburgh, UPMC Presbyterian
- JDJohn D. Rioux
Cedars-Sinai Medical Center, Johns Hopkins University, University of Pittsburgh, UPMC Presbyterian
- MSMark S. Silverberg
Cedars-Sinai Medical Center, Johns Hopkins University, University of Pittsburgh, UPMC Presbyterian
Topics & keywords
- Inflammatory bowel disease
- Disease
- Genome-wide association study
- Gene
- Genome
- Genetics
- Genetic association
- Biology
- Good health and well-being