XPC基因多态性与食管鳞状细胞癌、贲门腺癌的发病风险

Correlation of XPC Polymorphisms to the Risk of Esophageal Squamous Cell Carcinoma and Gastric Cardiac Adenocarcinoma

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（P〉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。

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 （CJCA） 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 （P 〉 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.