Low-prevalence of NOD2 polymorphisms in a Maltese IBD cohort

Abstract

Background: NOD2 was the first IBD susceptibility gene to be discovered, back in 2001. Despite the discovery of many other susceptibility loci, NOD2 remains of interest as it is one of the few risk loci that is not shared between Ulcerative colitis (UC) and Crohn's disease (CD), as it only contributes to the latter. Whilst NOD2 polymorphisms are very common in European CD patients, prior study on 83 Maltese CD patients showed low prevalence of the 3 main NOD2 polymorphisms: p.Arg702Trp, p.Gly908Arg and p.Leu1007fsinsC. Methods: We conducted a case–control discovery genetic association study using the Illumina Immunochip (v2) as a genotyping platform. 517 individuals were recruited, however, after strict quality control (QC), 160 CD, 93 UC and 188 healthy controls (HC) remained. Results: Gender distribution was approximately equal between all groups. Table 1 is a summary of baseline characteristics and demographic data of our study cohort.