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目的探讨着色性干皮病基因D(xeroderma pigmentosum group D,XPD)基因多态性与食管鳞癌的关系,为揭示食管癌病因及制定食管癌干预措施提供理论依据。方法采用病例对照研究方法,选取郑州大学附属第一医院食管鳞癌患者235例,按性别与年龄1∶1匹配选取河南省新乡县健康人群235人作为对照,采用聚合酶链反应-限制性片段长度多态性方法,检测XPD 312位点和751位点基因型,采用非条件Logistic回归进行多因素和交互作用分析。结果与野生型GG比较,XPD 312位点GA、AA和(GA+AA)基因型与食管鳞癌易感性无关,分别调整后OR=0.83(95%CI=0.05～13.55),OR=1.12(95%CI=0.06～19.47)和OR=1.35(95%CI=0.73～2.51);与野生型AA比较,XPD 751位点AC、CC和(AC+CC)基因型与食管鳞癌易感性无关,分别调整后OR=1.21(95%CI=0.80～1.83),OR=0.99(95%CI=0.42～2.31)和OR=1.17(95%CI=0.79～1.75);以GA作为对照单体型,GC、AA和AC单体型与食管鳞癌易感性无关,未发现两位点与吸烟或饮酒之间的交互作用。结论 XPD 312和XPD 751位点多态性可能与河南汉族人群食管鳞癌的发生无关,且与吸烟或饮酒不存在交互作用。
Objective To investigate the relationship between xeroderma pigmentosum group D (XPD) gene polymorphism and esophageal squamous cell carcinoma (ESCC), and to provide a theoretical basis for revealing the etiopathogenisis and esophageal cancer intervention. Methods A case-control study was conducted. 235 patients with esophageal squamous cell carcinoma in the First Affiliated Hospital of Zhengzhou University were enrolled in this study. 235 healthy individuals in Xinxiang County, Henan Province were selected as matched by sex and age 1: 1. Polymerase chain reaction-restriction fragment Length polymorphism was used to detect XPD 312 locus and 751 locus genotypes. Multivariate and interaction analysis was performed using non-conditional Logistic regression. Results Compared with wild type GG, the genotypes of GA, AA and (GA + AA) at XPD 312 site were not associated with susceptibility to esophageal squamous cell carcinoma (OR = 0.83, 95% CI = 0.05-13.55, OR = 1.12 95% CI = 0.06-19.47) and OR = 1.35 (95% CI = 0.73-2.51). Compared with wild-type AA, the genotypes of AC, CC and (AC + CC) at XPD 751 site were not associated with the susceptibility to esophageal squamous cell carcinoma , OR = 1.21 (95% CI = 0.80-1.83), OR = 0.99 (95% CI = 0.42-2.31) and OR = 1.17 , GC, AA and AC haplotype had no correlation with susceptibility to esophageal squamous cell carcinoma, and no interaction between the two sites and smoking or alcohol consumption was found. Conclusion The polymorphisms of XPD 312 and XPD 751 loci may not be related to the occurrence of esophageal squamous cell carcinoma in Henan Han population, and there is no interaction with smoking or alcohol consumption.