Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease

The caspase recruitment domain-containing protein 15 gene ( CARD15) was recently identified as an important susceptibility gene for Crohn's disease (CD). The purpose of this study was to assess the likelihood that the three most common CARD15 mutations, R702W, G908R and 1007fs, contribute to in...

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Bibliographic Details
Published in:Molecular and cellular probes 2005-08, Vol.19 (4), p.278-281
Main Authors: Zaahl, M.G., Winter, T., Warnich, L., Kotze, M.J.
Format: Article
Language:English
Subjects:
African Continental Ancestry Group - ethnology
African Continental Ancestry Group - genetics
CARD15
DNA Mutational Analysis
Female
Gene Frequency
Genotype
Humans
Inflammation
Inflammatory bowel disease
Inflammatory Bowel Diseases - ethnology
Inflammatory Bowel Diseases - genetics
Intracellular Signaling Peptides and Proteins - genetics
Male
NOD2
Nod2 Signaling Adaptor Protein
South Africa
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Summary:The caspase recruitment domain-containing protein 15 gene ( CARD15) was recently identified as an important susceptibility gene for Crohn's disease (CD). The purpose of this study was to assess the likelihood that the three most common CARD15 mutations, R702W, G908R and 1007fs, contribute to inflammatory bowel disease (IBD) susceptibility in the South African colored population. The study cohort included 76 IBD patients, 41 with CD and 35 with ulcerative colitis (UC), and 100 population-matched controls. Mutations R702W, G908R and 1007fs were present at relatively low frequencies (
ISSN:0890-8508
1096-1194
DOI:10.1016/j.mcp.2005.03.001