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Title: | The Molecular classification of the clinical manifestations of Crohn's Disease. |
Authors: | Ahamad, T. Armuzzi, A. Bunce, M. Mulcahy-Hawes, K. Marshall, S.E. Orchard, T.R. Crawshaw, J. Large, O. de Silva, A. Cook, J.T. Barnardo, M. Cullen, S. Welsh, K.I. Jewell, D.P. |
Keywords: | Crohn Disease Crohn Disease-classification Crohn Disease-mortality Crohn Disease-genetics Intracellular Signaling Peptides and Proteins |
Issue Date: | 2002 |
Publisher: | Elsevier-W.B. Saunders |
Citation: | Gastroenterology. 2002; 122(4): pp.854-66 |
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. |
Description: | Indexed in MEDLINE |
URI: | http://repository.kln.ac.lk/handle/123456789/1498 |
ISSN: | 0016-5085 (Print) 1528-0012 (Electronic) |
Appears in Collections: | Journal/Magazine Articles |
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