Genotype-phenotype correlations: how many disorders constitute inflammatory bowel disease?

Christoph Gasche, Behrooz Z. Alizadeh, A. Salvador Peña

Research output: Contribution to journalReview articlepeer-review

12 Citations (Scopus)


Various chromosomal loci transfer susceptibility to the development of Crohn's disease and/or ulcerative colitis. The disease-causing gene on one of these loci (IBD1) has been identified as CARD15/NOD2 and certain loss-of-function mutations were linked to the development of Crohn's disease. The recent data from association studies of CARD15/NOD2 mutations with certain phenotypes of Crohn's disease are reviewed. These mutations link to early onset ileal and fibrostenotic disease corresponding to the A1/L1 or L3/B2 subgroup of the Vienna classification. The present data on variations in HLA or cytokine genes suggest that these genes are disease modifying rather than disease predisposing. Certainly, inflammatory bowel diseases consist of more than two genotypes and phenotypes. At this stage, predictions on the number of disease causing genes, mutations or environmental factors are impossible. (C) 2003 Lippincott Williams Wilkins.

Original languageEnglish
Pages (from-to)599-606
Number of pages8
JournalEuropean journal of gastroenterology & hepatology
Issue number6
Publication statusPublished - 1-Jun-2003
Externally publishedYes


  • Carrier Proteins
  • Cytokines
  • Genotype
  • Humans
  • Inflammatory Bowel Diseases
  • Intracellular Signaling Peptides and Proteins
  • Mutation
  • Nod2 Signaling Adaptor Protein
  • Phenotype

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