RESEARCH ARTICLE The NOD2 Single Nucleotide Polymorphism rs72796353 (IVS4+10 A>C) Is a Predictor for Perianal Fistulas in Patients with Crohn's Disease in the Absence of Other NOD2 Mutations

Background A previous study suggested an association of the single nucleotide polymorphism (SNP) rs72796353 (IVS4+10 A>C) in the NOD2 gene with susceptibility to Crohn’s disease (CD). However, this finding has not been confirmed. Given that NOD2 variants still repre-sent the most important predictors for CD susceptibility and phenotype, we evaluated the association of rs72796353 with inflammatory bowel disease (IBD) susceptibility and the IBD phenotype. Methodology Genomic DNA from 2256 Caucasians, including 1073 CD patients, 464 patients with ulcera-tive colitis (UC), and 719 healthy controls, was genotyped for the NOD2 SNP rs72796353 and the three main CD-associated NOD2mutations rs2066844, rs2066845, and rs2066847. Subsequently, IBD association and genotype-phenotype analyses were conducted. Results In contrast to the strong associations of the NOD2 SNPs rs2066844 (p=3.51 x 10-3), rs2066845 (p=1.54 x 10-2), and rs2066847 (p=1.61 x 10-20) with CD susceptibility, no sig-nificant association of rs72796353 with CD or UC susceptibility was found. However, in CD patients without the three main CD-associated NOD2mutations, rs72796353 wa