毛细管扩张症突变基因启动子区单核苷酸多态性位点rs189037与广东鼻咽癌相关性研究  

Association between single nucleotide polymorphism locus rs189037 in the promoter of ATM gene and nasopharyngeal carcinoma susceptibility in Cantonese

作　　者：王宏梅[1] 石玉生[1] 李启生[1] 刘英[1] 郑小康[1] 陈龙华[1] 

机构地区：[1]南方医科大学南方医院放疗科,广东广州510515

出　　处：《南方医科大学学报》2011年第11期1863-1866,共4页Journal of Southern Medical University

基　　金：国家自然科学基金(30800276);广东省科技计划项目(2010B031600245)~~

摘　　要：目的毛细管扩张症突变(ATM)基因变异与多种肿瘤发生相关,但对ATM基因与鼻咽癌易感性研究报道较少。选择ATM基因启动子区单核苷酸多态性(SNP)位点rs189037,观察其多态性与广东鼻咽癌发生风险的关系。方法应用PCR方法对176名广东鼻咽癌患者和202名对照人群DNA标本rs189037位点进行扩增、纯化及测序,再进行人群相关性分析。结果 rs189037 G>A,其中杂合型G/A基因型频率在鼻咽癌患者及对照人群中分别为50%(88/176),47.5%(96/202);纯合突变型A/A基因型频率在鼻咽癌患者及对照人群中分别为15.3%(27/176),18.3%(37/202),经统计分析,G/A和A/A这两种基因型在两组间分布无显著性差异(OR=1.022,95%CI=0.668-1.564),进一步行年龄分层及性别分层,各两组间仍无明显差异。结论 ATM基因启动子区rs189037位点多态性在鼻咽癌患者和对照人群中基因型频率差别很小,推测其与中国广东地区鼻咽癌易感性无明显关联。Objective To evaluate the correlation between single nucleotide polymorphisms（SNP） in the promoter of ataxia-telangiectasia mutated（ATM） gene and the susceptibility of nasopharyngeal carcinoma in Cantonese.Methods A total of 176 NPC Cantonese NPC patients and 202 age-matched healthy controls were enrolled in this study.G/A genotyping of the SNP locus rs189037 in the promoter of ATM gene was performed by PCR and direct sequencing of the PCR products.Results The genotype frequency of heterozygote G/A was 50%（88/176） and 47.5%（96/202）,and that of the homozygote variant A/A was 15.3%（27/176） and 18.3%（37/202） in NPC patients and healthy individuals,respectively.Statistics analysis revealed no evident correlations of the G/A and A/A genotypes to the clinical phenotypes of NPC in either NPC group or healthy control group（OR=1.022,95%CI=0.668-1.564 for G/A＋A/A）.Analysis after stratification by age and gender found no such correlations either.Conclusion The genotype frequencies of SNP locus rs189037 in the promoter of ATM gene are similar between NPC patients and healthy subjects,suggesting that rs189037 is not related to the genetic susceptibility of NPC in Cantonese.

关 键 词：毛细管扩张症突变 单核苷酸多态性 鼻咽癌 广东人 

分 类 号：R739.63[医药卫生—肿瘤]