Genotype-phenotype analysis in childhood-onset Crohn's disease: NOD2/CARDI 5 variants consistently predict phenotypic characteristics of severe disease

The incidence of early-onset CD in Scotland is among the highest worldwide. Three single nucleotide polymorphisms (SNPs) R702W, G908R and Leu1007finsC in the NOD2/CARD15 gene predispose to adult CD. We investigated the contribution of these variants to disease susceptibility and phenotype in the Scottish early-onset IBD population.