The genetics of inflammatory bowel disease

Kim C. Lu, David W. Dietz

Research output: Contribution to journalArticlepeer-review


Genome-wide scanning has revealed at least seven inflammatory bowel disease (IBD) Crohn's disease (CD) susceptibility loci and one confirmed susceptibility gene, NOD2/CARD15. Within the first susceptibility locus, IBD1, three NOD/CARD15 alleles confer decreased immune responsiveness to intraluminal microbes. These alleles are associated with ileal involvement and an earlier age of onset. The IBD2 locus is associated with ulcerative colitis (UC) susceptibility. Within the IBD3 locus, HLA DRB1*0103 is associated with colonic Crohn's disease, UC pancolitis, and an earlier requirement for surgery in UC patients. Both IBD4 and -5 are associated with CD. IBD5 is associated with earlier onset CD. IBD5, IBD6, IBD7, and DLG5 interact with the NOD2/CARD15 mutations. Although significant progress has been made, researchers have just begun to unravel these complex genetic relationships. Further studies of the genetics of IBD will bring us closer to understanding the etiology of these diseases and will lead to more effective treatment of our patients.

Original languageEnglish (US)
Pages (from-to)171-177
Number of pages7
JournalSeminars in Colon and Rectal Surgery
Issue number3
StatePublished - Sep 2004
Externally publishedYes


  • CARD15
  • Crohn's disease
  • DLG5
  • Genetic susceptibility
  • IBD1
  • IBD2
  • IBD3
  • IBD4
  • IBD5
  • IBD6
  • IBD7
  • Inflammatory bowel disease
  • Ulcerative colitis

ASJC Scopus subject areas

  • Surgery
  • Gastroenterology


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