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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 relationship between the polymorphism of rs503464 and the genetic predisposition of lung cancer in the promoter region of nicotine acetylcholine receptor subunits alpha5 (α5) gene of Chinese Han population. Methods: The polymorphism of the TRNA polymorphism of CHRNA5 gene in 505 lung cancer patients and 496 healthy people diagnosed by histopathology was examined by SNaPshot technique. Results: Compared with individuals with homozygous genotype TT / AA, the risk of lung cancer was significantly lower in heterozygous TA carriers [adjusted odds ratio (OR) = 0.624, P <0.001]. Allele frequency distribution between the case group and the healthy control group showed no significant difference (P = 0.97). The results of pathological typing showed that the incidence of lung adenocarcinoma and lung squamous cell carcinoma in heterozygous TA carriers was significantly lower than that in homozygous TT / AA carriers (OR = 0.597 and 0.542, respectively, P = 0.002 ). Stratification analysis showed that this protective effect was more pronounced in those over 60 years of age and without a family history of tumor (P <0.001). CONCLUSION: TA at -10 locus of CHRNA5 gene promoter may be associated with the reduced genetic risk of lung cancer in Chinese Han population.