Cited by 3,039Inflammatory Bowel DiseaseGenetic Associations and EpidemiologyOcular Diseases and Behçet’s Syndrome

The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.

A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene

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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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Authors
Duerr, R. H., Taylor, K. D., Brant, S. R., Rioux, J. D., Silverberg, M. S., Daly, M. J., Steinhart, A. H., Abraham, C., Regueiro, M., Griffiths, A., Dassopoulos, T., Bitton, A., Yang, H., Targan, S., Datta, L. W., Kistner, E. O., Schumm, L. P., Lee, A. T., Gregersen, P. K., Barmada, M. M., Rotter, J. I., Nicolae, D. L., & Cho, J. H.
Affiliations
Cedars-Sinai Medical Center (US)
Corresponding author
Cho, Judy H.
Venue
Science
Published
2006-12
Volume
314
Issue
5804
Pages
1461-1463
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W1981714996
Cited by
3,039
References
30
Citations by year
2026: 53 · 2025: 74 · 2024: 89 · 2023: 100 · 2022: 85 · 2021: 91 · 2020: 81 · 2019: 120 · 2018: 92 · 2017: 115 · 2016: 126 · 2015: 132 · 2014: 154 · 2013: 177 · 2012: 189
FWCI
164.71
Type
journal article
Language
en
Open access
Locations
  • Science (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • Rutgers University Community Repository (Rutgers University) (submittedVersion)
  • UCL Discovery (University College London) (submittedVersion)
Funders
National Institute of Diabetes and Digestive and Kidney Diseases (DK62432, DK62431, DK62423, DK62413, DK62422, DK62420, DK62429, U01DK062420, U01DK062429, U24DK062429, U01DK062413, U01DK062422, P30DK063491, U01DK062432, U01DK062431, U01DK062423)
Topics
  • Health Sciences › Medicine › Gastroenterology › Inflammatory Bowel Disease
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Health Sciences › Medicine › Ophthalmology › Ocular Diseases and Behçet’s Syndrome
Keywords
IL23R, Crohn's disease, ulcerative colitis, inflammatory bowel disease, genetic susceptibility, rs11209026, protective genetic variants, non-coding variants, therapeutic target
MeSH terms
Alleles, Chromosomes, Human, Pair 1, Colitis, Ulcerative, Crohn Disease, Genetic Markers, Genetic Testing, Haplotypes, Humans, Jews, Cohort Studies, Signal Transduction, Linkage Disequilibrium, Genome, Human, Case-Control Studies, Receptors, Interleukin, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Interleukin-23

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