Genetics and epigenetics of IBD

Pharmacol Res. 2020 Sep:159:104892. doi: 10.1016/j.phrs.2020.104892. Epub 2020 May 25.


Inflammatory bowel diseases (IBD) are chronic intermittent inflammatory disorders of the gastrointestinal tract of unknown etiology but a clear genetic predisposition. Prompted by the first investigations on IBD families and twins, the genetic and epigenetic studies have produced an unprecedented amount of information in comparison with other immune-mediated or complex diseases. New inflammatory pathways and possible mechanisms of action have been disclosed, potentially leading to new-targeted therapy. However, the identification of genetic markers due to the great disease heterogeneity and the overwhelming contribution of environmental risk factors has not modified yet the disease management. The possibility for the future of a better prediction of disease course, response to therapy and therapy-related adverse events may allow a more efficient and personalized strategy. This review will focus on more recent discoveries that may potentially be of relevance in daily clinical practice.

Keywords: Crohn's disease (CD); Epigenetic; Genetic; Genome-wide association study (GWAS); Inflammatory bowel disease (IBD); Ulcerative colitis (UC).

Publication types

  • Review

MeSH terms

  • Animals
  • Anti-Inflammatory Agents / therapeutic use
  • Colitis, Ulcerative / drug therapy
  • Colitis, Ulcerative / genetics*
  • Colitis, Ulcerative / metabolism
  • Colitis, Ulcerative / pathology
  • Crohn Disease / drug therapy
  • Crohn Disease / genetics*
  • Crohn Disease / metabolism
  • Crohn Disease / pathology
  • Disease Models, Animal
  • Disease Progression
  • Epigenesis, Genetic*
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Humans
  • Pharmacogenomic Variants
  • Phenotype


  • Anti-Inflammatory Agents