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The genetics and immunopathogenesis of inflammatory bowel disease
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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“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].”
From Proton pump inhibitors and dysbiosis: current knowledge and aspects to be clarified (2019) · cites this paper as [143]
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Metadata
- Authors
- Cho, J. H.
- Affiliations
- Yale University (US)
- Corresponding author
- Cho, Judy H.
- ORCID
- 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
- 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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