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

The genetics and immunopathogenesis of inflammatory bowel disease

Cho, Judy H.·2008·Nature Reviews Immunology

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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Crossref · 10.1038/nri2340

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  • The expansion of Proteobacteria could facilitate a mucosal immune response in genetically predisposed individuals, leading to the development and continuation of chronic intestinal inflammation.

    “Moreover, the expansion of Proteobacteria could facilitate a mucosal immune response in genetically predisposed individuals, leading to the development and continuation of chronic intestinal inflammation[133,142,143].”

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Authors
Cho, J. H.
Affiliations
Yale University (US)
Corresponding author
Cho, Judy H.
Venue
Nature Reviews Immunology
Published
2008-06
Volume
8
Issue
6
Pages
458-466
ISSN
  • 1474-1733 (ISSN-L)
  • 1474-1741
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
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
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › 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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