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
Open accessAbstract
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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“Early wins in acute macular degeneration38 and inflammatory bowel disease39 were encouraging”
From A brief history of human disease genetics (2020) · cites this paper as [39]
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“In addition to Th17 cells, dermal γδ T cells respond to IL-23 and are a major source of IL-17A, IL-17F, and IL-22 cytokines in psoriatic lesions, making them additional contributors to disease pathogenesis [120, 121].”
From TH17 cell heterogeneity and its role in tissue inflammation (2023) · cites this paper as [120]
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“The so-called “IL-23-IL-17 axis” was found to function as a critical driver of autoimmune disease”
From The IL-17 Family of Cytokines in Health and Disease (2019) · cites this paper as Duerr et al., 2006
In the citing paper
“4) Some regions contain expected associations across diseases and traits. Crohn’s disease, psoriasis, and ankylosing spondylitis have long been recognized to share clinical features; the association of the same common polymorphisms in IL23R in all three diseases points to a shared molecular cause (96, 109, 110).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [96]
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Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
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A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
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Self-citationIL-23 drives a pathogenic T cell population that induces autoimmune inflammation
Langrish, C. L., Chen, Y., Blumenschein, W. M., Mattson, J., Basham, B., Sedgwick, J. D., McClanahan, T., Kastelein, R. A., & Cua, D. J. (2005) · The Journal of Experimental Medicine · doi:10.1084/jem.20041257 · Cited by 4,099
Veldhoen, M., Hocking, R. J., Atkins, C. J., Locksley, R. M., & Stockinger, B. (2006) · Immunity · doi:10.1016/j.immuni.2006.01.001 · Cited by 3,605
Podolsky, D. K. (2002) · New England Journal of Medicine · doi:10.1056/nejmra020831 · Cited by 3,183
Loftus, E. V. (2004) · Gastroenterology · doi:10.1053/j.gastro.2004.01.063 · Cited by 3,106
Transforming growth factor-β induces development of the TH17 lineage
Mangan, P. R., Harrington, L. E., O'Quinn, D. B., Helms, W. S., Bullard, D. C., Elson, C. O., Hatton, R. D., Wahl, S. M., Schoeb, T. R., & Weaver, C. T. (2006) · Nature · doi:10.1038/nature04754 · Cited by 3,087
Cua, D. J., Sherlock, J., Chen, Y., Murphy, C. A., Joyce, B., Seymour, B., Lucian, L., To, W., Kwan, S., Churakova, T., et al. (2003) · Nature · doi:10.1038/nature01355 · Cited by 2,906
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Induction of a colitogenic phenotype in Th1-like cells depends on interleukin-23 receptor signaling
Pawlak, M., DeTomaso, D., Schnell, A., Meyer zu Horste, G., Lee, Y., Nyman, J., Dionne, D., Regan, B. M. L., Singh, V., Delorey, T., et al. (2022) · Immunity · doi:10.1016/j.immuni.2022.08.007 · Cited by 49
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Establishing the relationship between brain cellular senescence and brain structure
Lund, A. N., Kopell, B. H., Golestani, N., Vornholt, E., Thompson, R. C., Liharska, L. E., Luo, Y., Cheng, E., Park, Y. J., Fennessy, B., et al. (2026) · Cell · doi:10.1016/j.cell.2025.10.014 · Cited by 6
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Metadata
- 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.
- ORCID
- 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
- Schumm, L. Philip
- Gregersen, Peter K.
- Barmada, M. Michael
- Rotter, Jerome I.
- Nicolae, Dan L.
- Cho, Judy H.
- Venue
- Science
- Published
- 2006-12
- Volume
- 314
- Issue
- 5804
- Pages
- 1461-1463
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC4410764
- 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
- green
- www.ncbi.nlm.nih.gov
- 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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