Review article: the genetics of inflammatory bowel disease

Aliment Pharmacol Ther. 2001 Jun;15(6):731-48. doi: 10.1046/j.1365-2036.2001.00981.x.


Recent epidemiological, clinical and molecular studies have provided strong evidence that inherited predisposition is important in the pathogenesis of chronic inflammatory bowel diseases. The model most consistent with the epidemiological data suggests that Crohn's disease and ulcerative colitis are related polygenic diseases, sharing some but not all susceptibility genes. Investigators throughout the world have applied the complementary techniques of genome-wide scanning and candidate gene analysis. Four areas of linkage have been widely replicated on chromosomes 16 (IBD1), 12 (IBD2), 6 (IBD3-the HLA region), and most recently on chromosome 14. Fine mapping of these regions is underway. Of the 'positional' candidate genes, most attention has centred on the genes of the major histocompatibility complex. Genes within this region may determine disease susceptibility, behaviour, complications and response to therapy. Hope continues that studies of inflammatory bowel disease genetics will provide fresh insight into disease pathogenesis and soon deliver clinical applications.

Publication types

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

MeSH terms

  • Chromosomes, Human, Pair 12 / genetics*
  • Chromosomes, Human, Pair 14 / genetics*
  • Chromosomes, Human, Pair 16 / genetics*
  • Chromosomes, Human, Pair 6 / genetics*
  • Epidemiologic Studies
  • Ethnic Groups
  • Genetic Linkage
  • Genetic Predisposition to Disease*
  • Humans
  • Inflammatory Bowel Diseases / genetics*
  • Inflammatory Bowel Diseases / physiopathology*
  • Twin Studies as Topic