Beyond gene discovery in inflammatory bowel disease: the emerging role of epigenetics

Gastroenterology. 2013 Aug;145(2):293-308. doi: 10.1053/j.gastro.2013.05.050. Epub 2013 Jun 8.


In the past decade, there have been fundamental advances in our understanding of genetic factors that contribute to the inflammatory bowel diseases (IBDs) Crohn's disease and ulcerative colitis. The latest international collaborative studies have brought the number of IBD susceptibility gene loci to 163. However, genetic factors account for only a portion of overall disease variance, indicating a need to better explore gene-environment interactions in the development of IBD. Epigenetic factors can mediate interactions between the environment and the genome; their study could provide new insight into the pathogenesis of IBD. We review recent progress in identification of genetic factors associated with IBD and discuss epigenetic mechanisms that could affect development and progression of IBD.

Keywords: CD; CpG; Crohn’s Disease; Crohn’s disease; DNA Methylation; DNA methyltransferase; DNMT; EWAS; Epigenetics; GWAS; HAT; HDAC; HDACi; IBD; IL; NF-κB; PBMC; SNP; T-helper; TNF; Th; UC; Ulcerative Colitis; cytosine-guanine dinucleotides; epigenome-wide methylation association studies; genome-wide association studies; histone acetyl transferase; histone deacetylase; histone deacetylatase inhibitors; inflammatory bowel disease; interleukin; mRNA; messenger RNA; miR; microRNA; nuclear factor κB; peripheral blood mononuclear cell; single nucleotide polymorphism; tumor necrosis factor; ulcerative colitis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Colitis, Ulcerative / genetics*
  • Crohn Disease / genetics*
  • Epigenesis, Genetic*
  • Epigenomics
  • Genetic Predisposition to Disease
  • Humans