Penetrance of NOD2/CARD15 genetic variants in the general population

26 Citations (Scopus)

Abstract

In case-control studies of Europeans, heterozygosity for Arg702Trp(rs2066844), Gly908Arg(rs2066845) and Leu1007fsinsC(rs5743293) on the NOD2/CARD15 gene is associated with a 2-fold greater risk of Crohn disease, whereas homozygosity or compound heterozygosity is associated with a 17-fold greater risk. However, the importance of these genetic variants if identified in particular individuals within the general population is unknown. We undertook this study to estimate the penetrance of these variants in the general population.
Original languageEnglish
JournalCMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne
Volume182
Issue number7
Pages (from-to)661-5
Number of pages5
DOIs
Publication statusPublished - 20 Apr 2010

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