The expanding universe of inflammatory bowel disease genetics

Curr Opin Gastroenterol. 2008 Jul;24(4):429-34. doi: 10.1097/MOG.0b013e3283009c92.


Purpose of review: Genetic factors play an important role in the pathogenesis of inflammatory bowel disease. In this review, we will provide an update on the rapid advances in the discovery of inflammatory bowel disease, primarily Crohn's disease, associated genes.

Recent findings: Seven recently published Crohn's disease genome-wide association studies have confirmed prior findings related to the nucleotide-binding oligomerization domain 2 (NOD2) gene and the IBD5 locus. In addition, 10 novel loci have been identified and well replicated.

Summary: Several promising associations between Crohn's disease and gene variants have been identified and replicated, the two most widely replicated being variants in the IL23R and ATG16L1 genes. These findings highlight and further support the importance of the immune system and its interactions with the intestinal microflora in the pathogenesis of inflammatory bowel disease.

Publication types

  • Review

MeSH terms

  • Crohn Disease / diagnosis
  • Crohn Disease / genetics*
  • Crohn Disease / therapy
  • Humans
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide / genetics*