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inflammatory bowel diseases

Wednesday 24 September 2003

IBDs; inflammatory bowel diseases (IBDs )


- Crohn disease

- ulcerative colitis (hemorragic rectoloitis )
- undeterminate colitis


Genetic association studies have identified 210 risk loci for inflammatory bowel disease, which have revealed fundamental aspects of the molecular biology of the disease, including the roles of autophagy and Th17 cell signaling and development.

A study identified 26 new genome-wide significant loci, three of which contain integrin genes that encode molecules in pathways identified as important therapeutic targets in inflammatory bowel disease.

The associated variants are also correlated with expression changes in response to immune stimulus at two of these genes (ITGA4 , ITGB8 ) and at two previously implicated integrin loci (ITGAL , ICAM1 ).

In all four cases, the stimulus-dependent expression increasing allele also increases disease risk. It identified likely causal missense variants in the primary immune deficiency gene PLCG2 and the negative regulator of inflammation, SLAMF8 .

- Locus IBD1
- Locus IBD2
- Locus IBD3
- Locus IBD4
- Locus IBD5 - 5q31 cytokine gene cluster
- Locus IBD6
- Locus CARD15
- MDR1 Ala893 polymorphism (7q) (14610718)
- variation in DLG5 gene (10q23) encoding a scaffolding protein involved in the maintenance of epithelial integrity (15107852)


- Colonoscopy of ulcerative colitis

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Open references

- Understanding inflammatory bowel disease via immunogenetics. de Lange KM, Barrett JC. J Autoimmun. 2015 Nov;64:91-100. doi : 10.1016/j.jaut.2015.07.013 PMID: 26257098 (Free)


- Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 2016.
doi : 10 1101/058255

- Inflammatory bowel disease biopsies: updated British Society of Gastroenterology reporting guidelines. Roger M Feakins. J Clin Pathol doi : 10 1136/jclinpath-2013-201885

- Ivanov AI, Nusrat A, Parkos CA. The epithelium in inflammatory bowel disease: potential role of endocytosis of junctional proteins in barrier disruption. Novartis Found Symp. 2004;263:115-24; discussion 124-32, 211-8. PMID: 15669638

- Mathew CG, Lewis CM. Genetics of inflammatory bowel disease: progress and prospects. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R161-8. PMID: 14764625

- Podolsky DK. Inflammatory bowel disease. N Engl J Med. 2002 Aug 8;347(6):417-29. PMID: 12167685