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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

  • 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(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。

     

    Abstract: Objective  To investigate the correlation of XPC int ron 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-rest riction fragment length polymorphism ( PCR-RFL P) analysis in 327 ESCC patient s, 253 GCA patient s 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 non2smoker 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.

     

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