目的：探讨PLCε1基因rs2274223 A/G单核苷酸多态性（single nucleotide polymorphism，SNP）和rs11599672 T/G SNP与河北省磁县高发区人群食管鳞状细胞癌（esophageal squamous cell carcinoma，ESCC）遗传易感性之间的关系。方法：采用聚合酶链反应-连接酶检测反应（polymerase chain reaction-ligase detection reaction，PCR-LDR）方法对527例ESCC患者和527例健康对照PLCε1基因rs2274223 A/G SNP和rs11599672 T/G SNP进行基因分型。结果：ESCC患者组上消化道肿瘤（upper gastrointestinal can⁃cer，UGIC）家族史阳性个体比例为48.6%，显著高于健康对照组（39.3%，χ2=9.25，P=0.002）。ESCC患者组及健康对照组PLCε1基因rs2274223 A/G SNP AA、AG、GG基因型频率分别为48.0%、43.9%、8.1%和57.1%、37.5%、5.4%。与AA基因型相比，携带AG、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）。PLCε1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PLCε1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：PLCε1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PLCε1基因rs2274223 A/G SNP AG、GG基因型的个体罹患ESCC的风险较高，应定期接受食管内镜检查，以便真正实现ESCC的早期诊断、早期治疗。%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.
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