代谢酶CYP2D6基因多态性与肺癌易感性的病例对照研究  

A case-control study on the association between genetic polymorphisms of metabolizing enzymes CYP2D6 and susceptibility to lung cancer

作　　者：郭占林[1] 周清华[1] 朱文[1] 李代蓉[1] 袁天柱[1] 王艳萍[1] 陈晓禾[1] 刘伦旭[1] 伍伫[1] 杨俊杰[1] 

机构地区：[1]四川大学华西医院四川省肺癌分子重点实验室,胸心外科,成都610041

出　　处：《中国肺癌杂志》2005年第2期89-94,共6页Chinese Journal of Lung Cancer

基　　金：国家"十五"攻关项目基金(No.2001BA703B11)资助~~

摘　　要：背景与目的外源性化合物代谢酶参与环境致癌物在体内的代谢,代谢酶基因多态性被认为与肺癌的易感性相关.本研究的目的是探讨代谢酶细胞色素2D6酶(CYP2D6)基因多态性在四川汉族正常人群和肺癌患者中的分布,以及CYP2D6基因多态性与肺癌易感性的关系.方法应用PCR-RFLP技术检测152例正常人和150例原发性肺癌患者的外周血CYP2D6ch基因型;应用病例对照研究分析CYP2D6ch基因多态性与肺癌易感性的关系.结果 (1)CYP2D6ch基因的C和T等位基因在正常人群中分布频率分别为39.5%和60.5%,而肺癌患者中分布频率分别为46.3%和53.7%;两组间C和T等位基因频率比较无显著性差异(P=0.089).(2)CYP2D6ch等位基因型C/C、C/T、T/T在正常人群中分布频率分别为18.4%、42.1%和39.5%,而在肺癌患者中分布频率分别为22.7%、47.3%和30.0%,两组间比较无显著性差异(P=0.215).(3)携带CYP2D6ch非T/T等位基因型的个体患肺鳞癌风险是携带T/T等位基因型的2.084倍(95%CI 1.024～4.244,P=0.043).(4)携带CYP2D6ch非T/T等位基因型的轻度吸烟者患肺癌风险是携带CYP2D6ch T/T等位基因型轻度吸烟者的2.92倍(95%CI 1.087～7.828,P=0.033).结论 CYP2D6ch非T/T等位基因型与肺鳞癌风险升高相关,在轻度吸烟人群中,非T/T等位基因型与肺癌风险升高相关.Background and objective Genetic polymorphism in metabolic enzymes, which are involved in metabolism of environmental carcinogens, have been thought to be related to susceptibility of lung cancer. The aim of this study is to investigate the cytochrome P450 2D6(CYP2D6) genetic polymorphism distribution in Han population in Sichuan, China, and to evaluate the relationship between CYP2D6 genetic polymorphism and lung cancer susceptibility. Methods PCR-RFLP was used to identify CYP2D6ch genotypes among 150 patients with primary lung cancer and 152 healthy controls, in Han population in Sichuan, China, and case-control study was used to analyze the relationship between genetic polymorphism and lung cancer susceptibility. Results (1) The distribution frequency of CYP2D6ch C and T allele were 39.5% and 60.5% in control group and 46.3% and 53.7% in lung cancer group, respectively. There was no significant difference between the two groups (P=0.089). (2)The distribution frequency of C/C, C/T and T/T genotypes were 18.4%, 42.1% and 39.5% in control group, and 22.7%, 47.3% and 30.0% in lung cancer group, respectively. No significant difference was found between the two groups (P=0.215). (3) The individuals who carried with Non-T/T genotypes had a 2.084-fold increased risk with squamous cell carcinoma (95%CI 1.024--4.244, P=0.043) than those who carried with T/T genotype. (4) The lighter smokers (<30 pack-years) who carried with Non-T/T genotypes had a 2.92-fold increased risk with lung cancer (95%CI 1.087--7.828, P=0.033) than those who carried with T/T genotype. Conclusion CYP2D6ch Non-T/T genotypes are factors associated mail:[e-mail]) with increased risk of squamous cell carcinoma and also increase risk of lung cancer among lighter smokers.

关 键 词：肺肿瘤 细胞色素2D6酶 基因多态性 

分 类 号：R734.2[医药卫生—肿瘤]