CARD15 in inflammatory bowel disease and Crohn's disease phenotypes: an association study and pooled analysis.

Fulltext:
51367.pdf
Embargo:
until further notice
Size:
172.4Kb
Format:
PDF
Description:
publisher's version
Publication year
2006Source
Digestive and Liver Disease, 38, 11, (2006), pp. 834-845ISSN
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Gastroenterology
Journal title
Digestive and Liver Disease
Volume
vol. 38
Issue
iss. 11
Page start
p. 834
Page end
p. 845
Subject
IGMD 2: Molecular gastro-enterology and hepatology; N4i 1: Pathogenesis and modulation of inflammation; NCMLS 5: Membrane transport and intracellular motility; UMCN 5.1: Genetic defects of metabolismAbstract
BACKGROUND: Three major polymorphisms of the Caspase-Activation Recruitment Domain containing protein 15 gene have been described to be associated with Crohn's disease. Genotype-phenotype studies reported in literature provide conflicting data on disease localisation and behaviour. We investigated the relation of Caspase-Activation Recruitment Domain containing protein 15 with inflammatory bowel disease and Crohn's disease phenotypic characteristics in a large Dutch cohort and performed a pooled analysis on inflammatory bowel disease patients and Crohn's disease phenotypic characteristics reported in association studies. METHODS: We genotyped 781 cases and 315 controls for the R702W, G908R and 1007fsinsC variants and for six microsatellite markers in and close to Caspase-Activation Recruitment Domain containing protein 15. In the pooled analysis data of 7201 inflammatory bowel disease patients and 3720 controls from 20 studies were included. RESULTS: Association was found for Crohn's disease with R702W and 1007fsinsC, including several disease characteristics, and not for ulcerative colitis. In the pooled analysis all three common Caspase-Activation Recruitment Domain containing protein 15 variants showed strong association with Crohn's disease (p<0.00001; odds ratio varying from 3.0 for single heterozygotes to 14.7 for compound heterozygotes) and not with ulcerative colitis. Phenotype analysis showed association with small bowel involvement, stricturing and penetrating disease. CONCLUSION: Caspase-Activation Recruitment Domain containing protein 15 is associated with Crohn's disease and not with ulcerative colitis. All three common Crohn's disease-associated variants are associated with small bowel involvement, the G908R and 1007fsinsC alleles also being associated with a complicated disease course.
This item appears in the following Collection(s)
- Academic publications [202801]
- Electronic publications [100942]
- Faculty of Medical Sciences [80020]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.