GSTA4基因调控区T/A多态与肺癌易感性之间的关联分析  

Association between T/A polymorphism in the promoter region of GSTA4 gene and genetic susceptibility to lung cancer

作　　者：经剑颖[1] 蒋跃明 胡志斌[3] 马红霞[3] 许量 王颖 刘宏亮[1] 王一[1] 钱吉[1] 

机构地区：[1]复旦大学现代人类学研究中心生命科学院遗传学研究所 [2]无锡传染病医院检验科,无锡214007 [3]南京医科大学公共卫生学院分子流行病实验室,南京210029 [4]国家人类基因组南方研究中心遗传学研究部,上海201203

出　　处：《肿瘤》2007年第1期39-42,共4页Tumor

基　　金：国家"973"重大基础研究发展计划(编号:2002CB512902)

摘　　要：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（x^2=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0R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 T（ - 1718）A polymorphism （rs182623） in the promoter region of the glutathione S-transferase alpha 4 （GSTA4） gene and genetic susceptibility to lung cancer in Chinese Han population. Methods：This study was based on a case-control study. T（- 1718 ）A single nucleotide polymorphism （SNP） in the control region of GATA4 gene was genotyped in 312 pathologically diagnosed lung cancer patients and 307 controls by using Bead Lab Genotyping System. Results：The A allele frequency of the- 1718 SNP in GSTA4 gene was 12.5% in the 312 lung cancer patients and that was 19.1 % in the controls. The difference was statistically significant between the two groups （X^2 = 10. 08, P= 0.002）. Compared with that of the TT genotype carriers, the risk of lung cancer for the individuals with at least one mutant allele （TA or AA） was reduced by 50%（corrected OR=0. 50, 95% CI= 0. 346-0. 725）. Pathological analysis showed that T/A polymorphism significantly decreased the risk of developing lung squamous carcinoma or small cell lung carcinoma [OR/95 % CI= 0. 41（0. 231-0. 732） and 0.36 （0. 135-0. 976）]. Stratification analysis found that the protective effect was more significant among the individuals exposed to no more than 25 pack-years smoking （P〈0. 001, OR= 0.24,95 % CI= 0.110-0. 533）. Conclusion： The polymorphism of T （ -1718 ）A in the control region of GSTA 4 gene may be associated with genetic susceptibility to lung cancer in Chinese Han population.

关 键 词：肺肿瘤 谷胱甘肽转移酶类 多态现象(遗传学) 流行病学 分子 谷胱甘肽S转移酶A4 

分 类 号：R734.2[医药卫生—肿瘤] R73-31[医药卫生—临床医学]