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河南汉族食管鳞癌与XPD基因多态性关系

Association of XPD gene polymorphisms with susceptibility of esophageal squamous cell carcinoma in Henan province

  • 摘要: 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。

     

    Abstract: Objective To explore the association of two single nucleotide polymorphisms (SNPs) in xeroderma pigmentosum group D gene(XPD) with esophageal squamous cell carcinoma(ESCC) risk,and to provide theoretical basis for revealing the etiology of esophageal cancer and developing intervention measures for esophageal cancer.Methods A case-control study was conducted in a Han population of Henan province.Totally 235 patients with ESCC were recruited from a hospital and 235 1:1 gender and age matched controls were selected from healthy population of a country in Henan province.Polymerase chain reaction-restriction fragment length polymorphism(PCR-PFLP) was used to detect the genotype of the two SNPs.Multiple variable analysis and gene-environment interaction analysis were done by using unconditional logistic regression.Results Compared to wild genotype GG,XPD 312 polymorphism variant genotypes of GA,AA,and GA + AA were not associated with the risk of ESCC with the adjusted odds ratio(OR) (95% confidence intervalCI) for ESCC risk of 0.83(0.05-13.55),1.12(0.06-19.47),and 1.35(0.73-2.51),respectively.Compared to wild genotype AA,XPD 751 polymorphism variant genotypes of AC,CC,and AC + CC were not associated with the risk of ESCC,with the adjusted OR(95% CI) for ESCC risk of 1.21(0.80-1.83),0.99(0.42-2.31),and 1.17(0.79-1.75),respectively.The haplotype GA merged by wild-type alleles was served as referent haplotype,and the haplotypes GC,AA,and AC were not associated with the risk of ESCC.The interactions between the two SNPs and smoking or alcohol drinking were also not detected.Conclusion The results suggest that XPD312 and XPD751 polymorphisms may be unrelated to the incidence of ESCC in Han population in Henan province.Gene-environment interactions were not found between the two SNPs and smoking or alcohol drinking.

     

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