Article
Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.
Human mutation - 1 Jan 2006
King Kathy, Sheikh Mohammed F, Cuthbert Andrew P, Fisher Sheila A, Onnie Clive M, Mirza Muddassar M, Pattni Reenal C, Sanderson Jeremy, Forbes Alastair, Mansfield John, Lewis Cathryn M, Roberts Roland G, Mathew Christopher G
Abstract excerpt
Three common mutations in the CARD15 (NOD2) gene are known to be associated with susceptibility to Crohn disease (CD), and genetic data suggest a gene dosage model with an increased risk of 2-4-fold in heterozygotes and 20-40-fold in homozygotes. However, the discovery of numerous rare variants of CARD15 indicates that some heterozygotes for the common mutations have a rare mutation on the other CARD15 allele,...
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