CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure.
Publication/Presentation Date
7-1-2002
Abstract
The caspase recruitment domain gene (CARD15) was recently identified as the underlying gene associated with the IBD1 locus that confers susceptibility to Crohn disease (CD). CARD15 is related to the NOD1/Apaf-1 family of apoptosis regulators, and three sequence variants (Arg702Trp, Gly908Arg, and Leu1007fsinsC) in the gene were demonstrated to be associated with CD. We collected a cohort of 231 patients with CD and 71 healthy control individuals from the Canadian province of Quebec, to determine the prevalence of these sequence variants in an independent population. Clinical records of all patients were systematically reviewed, and detailed phenotypic information was obtained. All patient DNA samples were genotyped for the three variants, thus enabling an analysis of genotype-phenotype correlations. In this cohort, 45.0% of patients with CD carried at least one variant in the CARD15 gene, compared with 9.0% of control individuals (P
Volume
71
Issue
1
First Page
74
Last Page
83
ISSN
0002-9297
Published In/Presented At
Vermeire, S., Wild, G., Kocher, K., Cousineau, J., Dufresne, L., Bitton, A., Langelier, D., Pare, P., Lapointe, G., Cohen, A., Daly, M. J., & Rioux, J. D. (2002). CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. American journal of human genetics, 71(1), 74–83. https://doi.org/10.1086/341124
Disciplines
Medicine and Health Sciences
PubMedID
12019468
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article