Association between PLCε1 gene polymorphisms and susceptibility to esophageal carcinoma

GG、AG/GG基因型可能增加ESCC的发病风险,经年龄、性别、吸烟状况、UGIC家族史校正后的OR值分别为1.41(95%CI=1.09~ 1.83)、1.71(95%CI=1.03~2.86)、1.45(95%CI=1.13~1.85)。PLCe1基因rs11599672 T/G SNP等位基因频率和基因型频率总体分 布在ESCC患者组及健康对照组之间无显著性差异(P>0.05)。应用2LD软件对PLCe1基因rs2274223 A/G SNP和rs11599672 T/G SNP进行联合分析显示,两个多态性位点间不存在连锁不平衡现象(D'=0.11)。与最常见的AT单体型相比,GT单体型增加了ES- CC的发病风险(OR=1.36,95%CI=1.08~1.71)。结论:PLCe1基因rs2274223 A/G SNP可以作为高发区人群ESCC遗传易感性的标 志物。UGIC家族史阳性个体、携带PLCe1基因rs2274223 A/G SNP AG、GG基因型的个体罹患ESCC的风险较高,应定期接受食管 2 De- partment of Surgery, Shijiazhuang Pingan Hospital, Shijiazhuang 050021, China Abstract Objective: To explore the association of PLCe1 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 PLCe1 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%) (χ 2 =9.25, P=0.002). The AA, AG, and GG genotype frequencies of PLCe1 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 PLCe1 gene rs11599672 T/G SNP between the ESCC cases and the controls (P>0.05). PLCe1 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: PLCe1 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.