The genetics of inflammatory bowel disease

Grace N. Gathungu, Judy H. Cho

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

1 Scopus citations


Through rapid advances, genome-wide association studies (GWAS) have identified almost 100 susceptibility genes which confer an increased risk of developing inflammatory bowel disorders (IBD). This review focuses on recent advances in our understanding of the genetics of IBD. We discuss the role of key loci or genes in IBD pathophysiology. Some of the genes implicated have highlighted key pathways including bacterial recognition (NOD2), autophagy (ATG16L1, IRGM) in Crohn's disease. Other loci including CDH, HNF4A, LAMB1, and ECM1 are significantly associated with ulcerative colitis (UC) and have been linked to modulating epithelial barrier function. Nearly one-third of the described loci or genes are common to both Crohn's disease and ulcerative colitis. Several of these are involved in the IL23 signaling pathway (IL23R, IL12B, JAK2, and STAT3). These findings highlight the importance of genetic variability and its interactions with the immune system, gut microbiota, and environmental factors in determining pathogenesis of IBD.

Original languageEnglish
Title of host publicationCrohn's Disease and Ulcerative Colitis
Subtitle of host publicationFrom Epidemiology and Immunobiology to a Rational Diagnostic and Therapeutic Approach
PublisherSpringer US
Number of pages16
ISBN (Electronic)9781461409984
ISBN (Print)9781461409977
StatePublished - 1 Jan 2012
Externally publishedYes


  • Autophagy
  • Crohn's disease
  • Epithelial defense
  • Innate immunity
  • Interleukin 23
  • Intestinal microbiome
  • Ulcerative colitis


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