Article
CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure.
American journal of human genetics - 1 Jul 2002
Vermeire Severine, Wild Gary, Kocher Kerry, Cousineau Josee, Dufresne Line, Bitton Alain, Langelier Diane, Pare Pierre, Lapointe Gilles, Cohen Albert, Daly Mark J, Rioux John D
Abstract excerpt
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...
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