中文摘要：

目的：研究CYP2D6（cytochromes P450 2D6）基因G4268C单核苷酸多态性与肺癌遗传易感性的关系。方法：应用病例一对照研究及聚合酶链反应一限制性片段长度多态性分析（PCR—RFLP）方法检测肺癌患者和按性别、年龄频数匹配的正常对照各118例的CYP2D6基因G4268C多态性，并应用Logistic回归分析各基因型与肺癌发病危险的关系。结果：肺癌组和对照组人群发生G4268→C的频率可高达69．49％和75．00％；非C4268／C（即G4268／G＋G4268／C）基因型与肺癌风险升高相关，经年龄、性别、吸烟情况调整OR=1．80（95％CI=1．06～3．06），尤其在腺癌中OR=2．95（95％CI=1．39～6．23）；对吸烟情况进行分层分析并经年龄、性别调整后发现，不吸烟者及轻度吸烟者中携带非C4268／C基因型的个体患肺癌的风险显著增高，其OR值分别为2．12（95％CI=1．03～4．36）和3．75（95％CI=1．15～12．22）。结论：CYP2D6C4268／C基因型可能是肺腺癌的遗传保护因素，并可降低不吸烟者、轻度吸烟者患肺癌的危险度。

英文摘要：

Objective：To evaluate the relation between the single nucleotide polymorphism of CYP2D6 gene G4268C and the genetic susceptibility to lung cancer. Methods： A case-control study was conducted among 118 lung cancer patients and 118 control subjects （matched for sex, age） to investigate the role of CYP2D6 gene G4268C polymorphism in lung cancer; PCRRFLP was used to identify the genotypes of polymorphism. Logistic regression was used to analyze the relationship between polymorphism and genetic susceptibility to lung cancer. Results： The frequency of G4268→C mutation in case and control group were 69.49% and 75.00%, respectively. Non-C4268/C genotype （including G4268/G and G4268/C genotype） was correlated to the high risk of lung cancer, with OR adjusted by gender, age and smoking being 1.80 （9% CI= 1.06-3.06）, especially to lung adenocarcinoma （OR being 2.95[95% CI= 1.39-6. 233）. After stratified analysis of smoking history and adjusting by gender and age, it was revealed that non-C4268/C genotype was associated with significantly increased risk of lung cancer in non-smokers and light-smokers group, with OR=2. 12 （95% CI=1. 03-4. 36） and OR= 3. 75 （950/00 CI=1. 15-12. 22）, respectively. Conclusion： C4268/C genotype may be a protective factor in lung adenocarcinoma patients and may decrease the risk of lung cancer in non-smokers and light-smorkers.