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. 2002 Apr;122(4):854-66.
doi: 10.1053/gast.2002.32413.

The molecular classification of the clinical manifestations of Crohn's disease

Tariq Ahmad  1 , Alessandro Armuzzi, Mike Bunce, Kim Mulcahy-Hawes, Sara E Marshall, Timothy R Orchard, Jonathan Crawshaw, Oliver Large, Arjuna de Silva, Julia T Cook, Martin Barnardo, Sue Cullen, Ken I Welsh, Derek P Jewell
Affiliations

The molecular classification of the clinical manifestations of Crohn's disease

Tariq Ahmad et al. Gastroenterology. 2002 Apr.

Erratum in

  • Gastroenterology. 2003 Jul;125(1):281

Abstract

Background & aims: Crohn's disease is a common inflammatory disorder of the gut characterized by variation in both location and behavior. Chromosome 16 and the HLA region on chromosome 6 have been implicated in susceptibility to disease. Mutations in the NOD2/CARD15 gene, recently identified on chromosome 16, have been associated with disease overall but are found in only 25% of patients. No data regarding their contribution to specific disease subtypes exist. Here we report a detailed genotype-phenotype analysis of 244 accurately characterized patients.

Methods: A total of 244 white patients with Crohn's disease recruited from a single center in the United Kingdom were studied. All patients were rigorously phenotyped and followed-up for a median time of 16 years. By using linkage disequilibrium mapping we studied 340 polymorphisms in 24 HLA genes and 3 NOD2/CARD15 polymorphisms.

Results: We show that NOD2/CARD15 mutations determine ileal disease only. We confirm that alleles on specific long-range HLA haplotypes determine overall susceptibility and describe novel genetic associations with susceptibility, location, and behavior of Crohn's disease.

Conclusions: The clinical pattern of Crohn's disease may be defined by specific genotypes. This study may provide the basis for a future molecular classification of disease.

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Comment in

  • Genomics and phenomics in Crohn's disease.
    Sachar DB. Sachar DB. Gastroenterology. 2002 Apr;122(4):1161-2. doi: 10.1053/gast.2002.32754. Gastroenterology. 2002. PMID: 11910366 Review. No abstract available.
  • NOD2 insertion mutation in a Cretan Crohn's disease population.
    Roussomoustakaki M, Koutroubakis I, Vardas EM, Dimoulios P, Kouroumalis EA, Baritaki S, Koutsoudakis G, Krambovitis E. Roussomoustakaki M, et al. Gastroenterology. 2003 Jan;124(1):272-3; author reply 273-4. doi: 10.1053/gast.2003.50036. Gastroenterology. 2003. PMID: 12512064 No abstract available.

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