Missense mutation in PRKCQ is associated with Crohn's disease

Recent genome-wide association studies have demonstrated that rs2236379 in PRKCQ is a novel significant locus for Crohn's disease (CD). However, the association has not been replicated in any populations. We therefore aimed to investigate the prevalence of the PRKCQ rs2236379 variant in the Chinese Han population and evaluate whether the genetic variant of PRKCQ confers susceptibility to CD and is associated with its clinical characteristics.

A total of 283 patients with CD and 381 healthy controls were enrolled. Genomic DNA was extracted from their whole blood samples and polymerase chain reaction-restriction fragment length polymorphism was used for genotyping. The association between PRKCQ polymorphisms and susceptibility to CD, and between genotypes and clinical phenotypes was analyzed.

A higher frequency of the T allele was discovered in CD patients than in healthy controls (P = 0.027). A significant difference in the distribution of the TT and CT/CC genotypes was observed between CD patients and controls (P = 0.024). The TT genotype showed a significant association with susceptibility to CD (odds ratio 1.647, 95% confidence interval: 1.088-2.574, P = 0.019). Patients with CD with the rs2236379 TT mutant risk genotype were most likely to exhibit perianal disease (P = 0.044).

Our research revealed an association between the PRKCQ rs2236379 (C>T) and CD. The TT homozygous mutation increased the risk of developing CD and may contribute to perianal disease.