乙酰胆碱受体亚单位α5基因启动子区-10位T/A多态和肺癌易感性的关联分析  

The polymorphism in the promoter region of nicotine acetylcholine receptor subunits α 5(CHRNA5)gene is associated with the decreased risk of lung cancer

作　　者：郑霞[1] 李雪[2] 王一 王红艳[1] 聂晨霞[3] 

机构地区：[1]复旦大学生命科学学院遗传工程国家重点实验室,上海200433 [2]浙江大学生命科学学院嗜极微生物实验室,杭州310000 [3]长治医学院生物教研室,长治046000

出　　处：《肿瘤》2010年第8期691-695,共5页Tumor

摘　　要：目的:研究中国汉族人群烟碱型乙酰胆碱受体亚单位α5(nicotine acetylcholine receptor subunits alpha5,CHRNA5)基因启动子区-10位T/A多态(rs503464)与肺癌遗传易感性之间的关系。方法:采用SNaPshot技术对505例经组织病理学确诊的肺癌患者和496例健康人的CHRNA5基因启动子区-10位T/A多态进行检测。结果:与携带纯合基因型TT/AA的个体相比较,杂合基因型TA携带者患肺癌的风险明显降低[校正后优势比(odds ratio,OR)=0.624,P<0.001]。等位基因频率分布在病例组和健康对照组间差异无统计学意义(P=0.97)。病理分型分析结果显示,杂合基因型TA携带者患肺腺癌和肺鳞癌的发病风险明显低于纯合基因型TT/AA携带者(OR值分别为0.597和0.542,均P=0.002)。分层分析后显示,这种保护作用在年龄大于60岁及无肿瘤家族史的人群中更显著(P<0.001)。结论:CHRNA5基因启动子区-10位杂合基因型TA可能与中国汉族人群罹患肺癌的遗传风险降低有关联。Objective：To investigate the association between T（-10） A polymorphism （rs503464）in the promoter region of the nicotine acetylcholine receptor subunits α5 （ CHRNA5 ） gene and the susceptibility of lung cancer in Chinese Han population. Methods ： This study was designed as a case-control study. Genotyping was performed using SNaPshot assay in 505 pathologically diagnosed lung cancer patients and 496 controls. Results. Compared with that of the homozygous genotype TT or AA carriers, the risk of lung cancer for the individuals with heterozygous genotype TA was reduced significantly [ adjusted odds ratio （OR） = 0. 624, P 〈 0. 001 ]. The allele distribution frequency had no difference between lung cancer patients and healthy controls （ P = 0.97）. Pathological analysis showed that compared with TT/AA carriers TA carriers had significantly decreased risk of developing lung adenocarcinoma （ adjusted OR = 0. 597,P = 0. 002） or lung squamous cell carcinoma （adjusted OR = 0. 542, P = 0. 002）. Stratification analysis showed that the protective effect of T/A polymorphism was more pronounced in the subjects genotyped as TA, with age 〉 60 or without family history of cancer （P 〈0. 001 ）. Conclusion：The polymorphism of 10T/A in the promoter region of CHRNA5 gene is associated with genetic susceptibility to lung cancer, while the genotype T/A is a protective factor for lung cancer in Chinese Han population.

关 键 词：肺肿瘤 受体 乙酰胆碱 疾病遗传易感性 病例对照分析 基因 CHRNA5 

分 类 号：R734.2[医药卫生—肿瘤]