NOD2, IRGM, and ORMDL3 polymorphisms increase risk of pediatric inflammatory bowel disease in Lithuanian population

Abstract

Background. Recent GWAs and meta-analyses have revealed about 163 susceptibility genes/loci for inflammatory bowel diseases (IBD). However, the most of them were performed in adult populations and only small number were published in children populations studies. Aims. To asses the frequency of NOD2, IL23R, ATG16L1, IRGM, IL10, NKX22-3 and ORMDL3 polymorphisms in a case-control panel of Lithuanian children. Methods. Seventhy six unrelated IBD children [30 with Crohn's disease (CD) and 46 with ulcerative colitis (UC)] at the age of ≤ 17 years and 158 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 Arg702Trp (rs2066844), Gly908Arg(rs2066845) and Leu1007insC (rs2066847), IL23R rs11209026, ATG16L1 rs2241880, IRGM rs4958847, IL10 rs3024505), NKX2-3 rs11190140 and ORMDL3 rs2872507. Results. The combined NOD2 risk allele carriership predisposes to CD in the Lithuanian pediatric population (38.7% CD vs 13% controls, P<0,001). In the allelic single marker analysis, ... [...].