Impact of Genes and the Environment on the Pathogenesis and Disease Course of Inflammatory Bowel Disease

Dig Dis Sci. 2019 Jul;64(7):1759-1769. doi: 10.1007/s10620-019-05648-w.


Crohn's disease and ulcerative colitis constitute two major subgroups of inflammatory bowel diseases (IBD), a group of complex polygenic diseases characterized by chronic and progressive inflammation in the gastrointestinal tract. In recent years, methodological advances in genetic analysis have greatly expanded our understanding of the genetic background of IBD. So far, more than 240 genetic risk loci have been identified for IBD. However, these risk alleles explain less than 30% of the susceptibility to disease development, suggesting that environmental factors contribute considerably. The increasing occurrence of IBD in Eastern countries following their 'westernization', as well as the increased risk of disease among those who migrate to high-incidence regions, also suggest that the environment is key in the pathogenesis of IBD. In this review, we summarize the current evidence on the role of genetic and environmental factors in the susceptibility to, and disease course of, IBD, and we suggest how these findings might be applied to clinical practice.

Keywords: Crohn’s disease; Environment; Genetics; Inflammatory bowel disease; Pathogenesis; Risk factors; Ulcerative colitis.

Publication types

  • Review

MeSH terms

  • Adaptive Immunity / genetics
  • Animals
  • Colitis, Ulcerative / genetics*
  • Colitis, Ulcerative / immunology
  • Colitis, Ulcerative / pathology
  • Crohn Disease / genetics*
  • Crohn Disease / immunology
  • Crohn Disease / pathology
  • Gene-Environment Interaction*
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Humans
  • Immunity, Innate / genetics
  • Intestinal Mucosa / immunology
  • Intestinal Mucosa / pathology
  • Phenotype
  • Risk Factors