DNA修复基因hOGG1多态与食管癌遗传易感性

目的：研究修复８－羟基鸟嘌呤的ｈＯＧＧ１基因Ｓｅｒ３２６Ｃｙｓ多态与中国人食管癌易感性的关系。方法：采用病例－对照分子流行病学方法，以ＰＣＲ－单链构象多态（ｓｉｎｇｌｅ ｓｔｒａｎｄ ｃｏｎｆｏｒｍａｔｉｏｎ ｐｏｌｙｍｏｒｐｈｉｓｍ，ＳＳＣＰ）技术，分析了２０１名正常对照和１９６例食管癌患者ｈＯＧＧ１基因第３２６位Ｓｅｒ／Ｓｅｒ、Ｓｅｒ／Ｃｙｓ和Ｃｙｓ／Ｃｙｓ基因型分布，并比较不同基因型与食管癌风险的关系。结果：正常人群的Ｓｅｒ／Ｓｅｒ、Ｓｅｒ／Ｃｙｓ和Ｃｙｓ／Ｃｙｓ基因型频率分别为３３．８％、５２．８％和１３．４％，而食管癌病例组则分别为３９．８％、３８．８％和２１．４％。虽然两组人群的Ｃｙｓ等位基因频率基本相同（３９．８％４０．８％），但食管癌病例组的Ｃｙｓ／Ｃｙｓ基因型频率显著高于对照组（Ｐ＜０．０５）

Genetic polymorphism in hOGG1 and susceptibility to esophageal cancer in Chinese

Objective To examine the association between Ser326Cys polymorphism in hOGG1 gene, which is involved in the repair of 8 hydroxyguanine in damaged DNA, and investigate the risk of squamous cell carcinoma of the esophagus in Chinese. Methods Ser326Cys polymorphism in hOGG1 gene was determined by PCR SSCP approach among 201 normal controls and 196 patients with squamous cell carcinoma of the esophagus. The association between this genetic polymorphism and the risk of the cancer was examined by a multivariate analysis. Results The Cys/Cys genotype of hOGG1 was found in 21.4% of patients with the cancer and in 13.4% of controls ( P <0.05). Homozygosity for the Cys/Cys genotype significantly increased the risk of developing esophageal cancer, with the odds ratio adjusted for age, sex and smoking being 1.9 (95% CI 1.3 2.6). Smoking also significantly increased esophageal cancer risk in this case control study (adjusted OR 2.6; 95% CI 1.7 3.9). No interaction between smoking and Cys/Cys genotype was observed for the risk of esophageal cancer. Conclusion Polymorphism of hOGG1 Ser326Cys may play a role in esophageal carcinogenesis.