Alterations of the CARD15/NOD2 gene and the impact on management and treatment of Crohn's disease patients

Dig Dis. 2003;21(4):339-45. doi: 10.1159/000075357.


The recent identification of the CARD15/NOD2 gene as a susceptibility locus for Crohn's disease represents an important step towards the delineation of the immunopathogenesis of inflammatory bowel disease. CARD15 functions as an intracellular receptor for bacterial components and thus represents an important link between inflammatory bowel disease and innate immunity. Three major CARD15/NOD2 gene mutations have been associated with Crohn's disease in Caucasians in several independent studies. Together, they explain about 20% of the genetic susceptibility for Crohn's disease. Genotype-phenotype analyses demonstrated an association of these mutations with ileum-specific disease, an increased incidence of the fibrostenotic phenotype and an earlier age of disease onset. Beside these associations, no other relationship between the CARD15/NOD2 genotype and disease behavior or response to treatment has been detailed so far. Thus, the clinical impact of knowing the patient's genotype is limited at this time. Screening for CARD15 mutations in order to identify high-risk individuals or to introduce an individualized disease management is therefore currently not recommended.

Publication types

  • Review

MeSH terms

  • Apoptosis
  • Carrier Proteins / genetics*
  • Crohn Disease / diagnosis
  • Crohn Disease / genetics*
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Intracellular Signaling Peptides and Proteins*
  • Nod2 Signaling Adaptor Protein


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