烟碱型乙酰胆碱受体基因多态性与NSCLC的相关性研究  

Association between CHRNA5 gene polymorphism and susceptibility to non-small cell lung cancer

作　　者：陆晶晶[1] 黄建浩[1] 尹琦[1] 朱辉[1] 

机构地区：[1]同济大学附属东方医院呼吸内科,上海200120

出　　处：《同济大学学报（医学版）》2016年第3期36-39,55,共5页Journal of Tongji University(Medical Science)

基　　金：同济大学附属东方医院起航计划青年项目(DFQH-Q18)

摘　　要：目的探讨烟碱型乙酰胆碱受体a5（nicotine acetylcholine receptor subunits alpha5,CHRNA5）基因-1640C/T（rs3829787）单核苷酸多态性与非小细胞肺癌（non-small cell lung cancer,NSCLC）易感性的关系。方法应用聚合酶链式反应和Sanger测序方法,检测102例非小细胞肺癌患者和131例健康对照者CHRNA5基因-1640C/T位点基因型分布情况,观察该位点基因多态性是否与非小细胞肺癌发病及病理类型相关。结果两组人群均存在CHRNA5基因-1640C/T多态性;两组人群基因型、等位基因频率差异存在统计学意义,肺癌组CT＋TT基因型、T等位基因频率均高于对照组（P〈0.05）;基因型频率的相对风险分析发现,CT、TT基因型各自患肺癌的风险分别是CC基因型的1.77倍（95%CI：0.93～3.36）和4.70倍（95%CI：1.23～17.99）;-1640T在肺腺癌中分布频率较非腺癌中高（P〈0.05）。结论 CHRNA5基因-1640C/T多态性可能与非小细胞肺癌易感性相关,该位点携带T等位基因的吸烟人群可能更容易发生肺癌,尤其是肺腺癌。Objective To investigate the association of nicotine acetylcholine receptor subunits alpha5（CHRNA5） gene-1640 C / T（rs3829787） polymorphism with susceptibility to non-small cell lung cancer（NSCLC）.Methods CHRNA5 gene-1640 C / T polymorphism was genotyped with PCRSanger method in 102 NSCLC patients and 131 healthy adults.The association of CHRNA5 gene polymorphism with pathological type of lung cancer was analyzed.Results CHRNA5 gene-1640 CT ＋ TT genotype and T allele were more frequent in NSCLC patients than that in controls（P〈0.01）.The relative risk of CT genotype carrier to NSCLC was 1.77 times of CC genotype（95% CI：0.93-3.36）.The relative risk of TT genotype carrier to NSCLC was 4.70 times of CC genotype（95% CI：1.23-17.99）.The distribution of CHRNA5 gene-1640 T polymorphism in lung adenocarcinoma was higher than that of non-adenocarcinoma.Conclusion CHRNA5 gene-1640 T allele may be a genetic susceptibility factor to NSCLC,especially to lung adenocarcinoma.

关 键 词：非小细胞肺肿瘤 烟碱型乙酰胆碱受体a5基因 单核苷酸多态性 等位基因 

分 类 号：R563.9[医药卫生—呼吸系统]