Article
Extreme heterogeneity in CARD15 and DLG5 Crohn disease-associated polymorphisms between German and Norwegian populations.
European journal of human genetics : EJHG - 1 Apr 2006
Medici Valentina, Mascheretti Silvia, Croucher Peter J P, Stoll Monika, Hampe Jochen, Grebe Jochen, Sturniolo Giacomo C, Solberg Camilla, Jahnsen Jorgen, Moum Bjorn, Schreiber Stefan, Vatn Morten H
Abstract excerpt
The first gene associated with Crohn disease (CD) has been identified as CARD15 (16q12). Three variants, R702W, G908R and 1007fsinsC are strongly and independently associated with the disease. A second gene, conveying a smaller risk for inflammatory bowel disease (IBD), has been identified as DLG5 (10q23). We assess the frequency of the CARD15 SNPs and of the R30Q mutation in DLG5 and their contribution to the...
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