XPC基因多态性及食管鳞状细胞癌、贲门腺癌发病风险.docVIP

XPC基因多态性及食管鳞状细胞癌、贲门腺癌发病风险 　 作者：郭炜，周荣秒，李琰，王娜，万玲玲 【摘要】 目的 探讨DNA修复基因XPC第9内含子PAT+/-和第15外显子A2920C 单核苷酸多态性（SNP）与河北省食管癌、贲门癌高发区磁县和涉县人群食管鳞状细胞癌（ESCC）和贲门腺癌（GCA）遗传易感性的关系。方法 采用聚合酶链反应限制性片段长度多态性（PCRRFLP）分析方法检测327名ESCC患者、253名GCA患者和612名健康对照个体的XPC基因第9内含子PAT+/-及第15外显子A2920C SNP的基因型，比较各组间等位基因及基因型频率的分布。结果 XPC基因第9内含子PAT+/-和第15外显子A2920C的基因型及等位基因型频率在ESCC患者组、GCA患者组和对照组之间，其总体分布均无显著性差异（Pgt;0.05）。根据吸烟状况和上消化道肿瘤家族史分层分析发现，与A/A基因型比较，携带C/C基因型可能增加非吸烟个体ESCC的发病风险 （经性别、年龄和上消化道肿瘤家族史校正后的OR=2.09，95%CI=1.14～3.81）。结论 XPC基因第15外显子C/C基因型可能是影响河北省食管癌、贲门癌高发区磁县和涉县非吸烟人群ESCC发病风险的因素之一。 【关键词】 食管鳞状细胞癌；贲门腺癌；XPC；基因多态性；肿瘤易感性 　　Correlation of XPC Polymorphisms to the Risk of Esophageal Squamous Cell Carcinoma and Gastric Cardiac Adenocarcinoma 　　Abstract：Objective To investigate the correlation of XPC intron 9 PAT+/- and exon 15 A2920C SNPs with susceptibility to esophageal squamous cell carcinoma (ESCC) and gastric cardiac adenocarcinoma (GCA) in a population of high incidence region of Hebei Province. Methods XPC intron 9 PAT+/- and exon 15 A2920C SNPs were genotyped by polymerase chain reactionrestriction fragment length polymorphism (PCRRFLP) analysis in 327 ESCC patients, 253 GCA patients and 612 healthy controls. Results The overall genotype and allelotype distributions of XPC intron 9 PAT+/- and exon 15 A2920C in ESCC and GCA patients were not significantly different from that in healthy controls（Pgt;0.05）. When stratified for smoking status and UGIC family history, compared with A/A genotype, C/C genotype significantly increased the risk of developing ESCC in nonsmoker group [age and gender and UGIC family history adjusted odds ratio (OR)=2.09, 95%CI=1.14～3.81]. Conclusion C/C genotype of XPC exon 15 may be one of the factors that affect the risk of developing ESCC in nonsmoking population in the high incidence region of Hebei Province. 　　Key words：Esophageal squamous cell carcinoma；Gastric cardiac adenocarcinoma；XPC；Polymorphism; Susceptibility 　　0 引言 XPC基因定位于染色体3p25，包括16个外显子和15个内含子，编码一个含940个氨基酸的蛋白质，其第9内含子