Mutation screening of CTRC gene and related clinical study in Han population of Sichuan / 医学研究生学报

ABSTRACT

ObjectiveChronic pancreatitis (CP) is an irreversible pancreatic parenchymal disease with complicated etiology. Chymotrypsin C (CTRC) gene variation may be related to CP occurrence. The article analyzed the mutation of CTRC gene in Han population with CP in Sichuan, and discussed its clinical relevance.MethodsPeripheral blood samples were collected from 106 patients with CP and 148 healthy controls and DNA was extracted for whole exon sequencing of CTRC gene and analysis of clinical correlation.ResultsOne case of c.611G>A heterozygous missense mutation and three cases of single nucleotide polymorphism (SNP) site variation were found which included one new SNP c.40+133G>A and two known SNPs rs6679763 and rs555015. The variation of c.40 +133G> A and rs6679763 showed a significant difference between case group and control group (P=0.029, P=0.011). Clinical baseline data showed significant differences between two groups on smoking (P=0.042), biliary disease (P=0.013), and blood glucose(P=0.017). When the confounding factors were eliminated, we found that smoking and rs6679763 variant site were significantly associated with CP risk (OR=2.817, 95%CI 1.016-7.811, P=0.047;OR = 4.893, 95%CI 1.152-20.781, P=0.031, respectively). There was no multiplicative interaction between gene mutation and environment or clinical data.ConclusionSmoking, biliary disease, blood glucose, c.611G>A mutation, rs6679763 and c.40+133G>A variation may be related to the occurrence of CP. Smoking and rs6679763 locus variation are independent risk factors for CP, and the CTRC gene SNP locus rs6679763 and c.40+133G>A and the point mutation site c.611G>A are predisposing loci in Chinese Han population of Sichuan province.