Association between PLCε1 gene polymorphisms and susceptibility to esophageal carcinoma / 中国肿瘤临床

ABSTRACT

Objective: To explore the association of PLCε1 gene rs2274223 A/G single nucleotide polymorphism (SNP) and rs11599672 T/G SNP with susceptibility to esophageal squamous cell carcinoma (ESCC) in a population of Ci County high-incidence region in Hebei Province. Methods:The genotypes of PLCε1 gene rs2274223 A/G SNP and rs11599672 T/G SNP were determined by polymerase chain reaction–ligase detection reaction method in 527 ESCC patients and 527 healthy controls. Results:The frequency of positive family history of upper gastrointestinal cancer UGIC in ESCC patients was 48.6%, which is significantly higher than that in the healthy controls (39.3%) (χ2=9.25, P=0.002). The AA, AG, and GG genotype frequencies of PLCε1 gene rs2274223 A/G SNP were 48.0%, 43.9%, 8.1%in the ESCC patients and 57.1%, 37.5%, 5.4%in the healthy controls, respectively. Compared with AA genotype, AG, GG, and AG/GG genotypes enhanced the risk of ESCC. The age, sex, smoking status, and UGIC family history-adjusted OR were 1.41 (95%CI=1.09-1.83), 1.71 (95%CI=1.03-2.86), and 1.45 (95%CI=1.13-1.85), respectively. No significant difference was observed in the frequency of the genotype and allele of PLCε1 gene rs11599672 T/G SNP between the ESCC cases and the controls (P>0.05). PLCε1 gene rs2274223 A/G SNP and rs11599672 T/G SNP were combined for analysis using a 2LD software. Results showed that no linkage disequilibrium exists between these two SNPs (D'=0.11). Compared with the most frequent AT haplotype, the GT haplotype sig-nificantly increased the risk of ESCC (OR=1.36, 95%CI=1.08-1.71). Conclusion:PLCε1 gene rs2274223 A/G SNP might serve as a marker predicting genetic susceptibility to ESCC of the population from Ci County. The subjects with UGIC family history and the AG-or GG-genotype carriers had higher risk of ESCC and should receive periodic upper gastrointestinal fiber tests for early detection and treatment of ESCC.