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目的:研究中国汉族人群谷胱甘肽S转移酶A4基因调控区-1718位T/A多态(rs182623)与肺癌遗传易感性之间的关系。方法:采用病例-对照研究方法,应用Bead Lab Genotyping System技术对312例经病理学确诊的肺癌患者和307例正常人的GSTA4基因调控区-1718位多态进行检测。结果:GSTA4调控区-1718位点突变的A等位基因频率在病例组为12.5%、正常对照组为19.1%,组间的差异有统计学意义(χ2=10.08,P=0.002)。与携带GSTA4基因调控区-1718位TT基因型相比较,至少携带一个突变A等位基因(TA和AA)的个体患肺癌风险降低了50%(校正OR=0.50,95%CI=0.346~0.725),病理分型分析结果显示风险降低主要发生在肺鳞癌和小细胞肺癌[OR、95%CI分别为0.41(0.231~0.732)、0.36(0.135~0.976)]。分层分析后显示,此保护作用在累计吸烟量≤25包年人群中更强(P<0.001,校正OR值=0.24,95%CI=0.110~0.533)。结论:首次发现GSTA4基因调控区-1718位T/A多态可能与中国汉族人群肺癌遗传易感性有关联。
Objective: To investigate the relationship between the polymorphism of glutathione S-transferase A4 gene -1718 T / A polymorphism (rs182623) and genetic susceptibility to lung cancer in Chinese Han population. Methods: A total of 312 lung cancer patients diagnosed by pathology and 307 healthy controls were genotyped by the Bead Lab Genotyping System at -1718 polymorphism in GSTA4 gene region using a case-control study. Results: The frequency of allele A at mutation point -1718 of GSTA4 was 12.5% in case group and 19.1% in normal control group. The difference between the two groups was statistically significant (χ2 = 10.08, P = 0.002). Individuals who carried at least one mutant A allele (TA and AA) had a 50% lower risk of lung cancer than those carrying the GSTA4 gene -1718 TT genotype (adjusted OR = 0.50, 95% CI = 0.346-0.725 ). The pathological typing analysis showed that the risk reduction mainly occurred in lung squamous cell carcinoma and small cell lung cancer [OR, 95% CI 0.41 (0.231-0.732, 0.36, 0.135-0.976, respectively]]. Hierarchical analysis showed that this protective effect was stronger in those with cumulative smoking ≤25 years of age (P <0.001, adjusted OR = 0.24, 95% CI = 0.110-0.533). CONCLUSION: It was first found that the -1718 T / A polymorphism in GSTA4 gene regulatory region may be associated with genetic susceptibility to lung cancer in Chinese Han population.