Cited by 940Inflammatory Bowel DiseaseGenetic Associations and EpidemiologyOcular Diseases and Behçet’s Syndrome

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The genetics and immunopathogenesis of inflammatory bowel disease

Cho, Judy H.·2008·Nature Reviews Immunology

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Abstract

Genome-wide association studies efficiently and powerfully assay common genetic variation. The application of these studies to Crohn's disease has provided insight into the immunopathogenesis of this disease, implicating a role for genes of the innate and adaptive immune systems. In this Review, I discuss our current understanding of the genetics and immunopathogenesis of Crohn's disease and ulcerative colitis. Crohn's disease, but not ulcerative colitis, is associated with genetic variation in NOD2 and an autophagy gene, ATG16L1, both of which affect the intracellular processing of bacterial components. By contrast, variation in the gene encoding the interleukin-23 (IL-23) receptor subunit, as well as in the IL12B, STAT3 and NKX2-3 gene regions, is associated with both Crohn's disease and ulcerative colitis. Comparative analyses of gene associations between these two inflammatory bowel diseases reveal common and unique mechanisms of their immunopathogenesis.

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Authors: Cho, J. H.
Affiliations: Yale University (US)
Corresponding author: Cho, Judy H.
ORCID: Cho, Judy H.
Venue: Nature Reviews Immunology
Publisher: Springer Science and Business Media LLC
Published: 2008-06
Volume: 8
Issue: 6
Pages: 458-466
ISSN: 1474-1733 (ISSN-L)
1474-1741
DOI: 10.1038/nri2340
OpenAlex: W2066203385
Cited by: 940
References: 99
Citations by year: 2026: 16 · 2025: 14 · 2024: 28 · 2023: 30 · 2022: 30 · 2021: 32 · 2020: 47 · 2019: 39 · 2018: 45 · 2017: 37 · 2016: 53 · 2015: 50 · 2014: 61 · 2013: 71 · 2012: 80
FWCI: 9.45
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature reviews. Immunology (publishedVersion)
PubMed (publishedVersion)
Funders: Georgia Clinical and Translational Science Alliance
National Institute of Diabetes and Digestive and Kidney Diseases (U01-DK62429, U01DK62422, R01DK072373, U01DK062429, U01DK062422)
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: inflammatory bowel disease, Crohn's disease, ulcerative colitis, genetic susceptibility, immunopathogenesis, NOD2, ATG16L1, autophagy, IL23R, IL12B, STAT3, NKX2-3, bacterial sensing, cytokine signaling, innate immunity, adaptive immunity, genome-wide association study
MeSH terms: Animals, Colitis, Ulcerative, Crohn Disease, Humans, Inflammatory Bowel Diseases, Genetic Predisposition to Disease

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