Clinical relevance of advances in genetics and pharmacogenetics of IBD

Gastroenterology. 2004 May;126(6):1533-49. doi: 10.1053/j.gastro.2004.01.061.


Crohn's disease and ulcerative colitis result from an inappropriate response of the mucosal immune system to the normal enteric flora in a genetically susceptible individual. During the past decade, exciting progress has been made in our understanding of the contribution of genetics to inflammatory bowel disease susceptibility and phenotype. This article reviews recent advances in the genetics of inflammatory bowel disease and explores how they might impact on clinical practice. Current knowledge of the genetic basis for disease susceptibility, phenotype, and response to therapy is explored and the factors currently limiting the translation of this knowledge to clinical practice is discussed.

Publication types

  • Review

MeSH terms

  • Carrier Proteins / genetics
  • Gastrointestinal Agents / therapeutic use
  • Genetic Predisposition to Disease
  • Humans
  • Inflammatory Bowel Diseases / drug therapy*
  • Inflammatory Bowel Diseases / genetics*
  • Intracellular Signaling Peptides and Proteins*
  • Nod2 Signaling Adaptor Protein
  • Pharmacogenetics
  • Phenotype


  • Carrier Proteins
  • Gastrointestinal Agents
  • Intracellular Signaling Peptides and Proteins
  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein