Where are inflammatory bowel disease (IBD)-susceptibility genes?

Updated: Apr 10, 2020
  • Author: William A Rowe, MD; Chief Editor: BS Anand, MD  more...
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There is strong support for IBD-susceptibility genes on chromosome 5p13.1, which is a gene desert but does modulate expression of the PTGER4 gene. A murine PTGER4 knockout model has significant susceptibility to severe colitis. [23] A large genomic study of multiple diseases confirmed many of the findings that were found in earlier studies, as well as several additional loci of interest for Crohn disease. [24]

Disruption of a homologous gene in a murine model resulted in defective development of the intestine. [25] It was hypothesized that changes in the expression of this gene could alter the migration of lymphocytes in the intestine and change its inflammatory response. The last locus discussed in this model is immediately upstream of the PTPN2 on chromosome 18p11 and encodes a T cell protein tyrosine phosphatase, which is a negative regulator of inflammation. [25]

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