摘要
目的 研究湖北省汉族人群中TERT-CLPTM1L基因rs402710、rs401681、rs465498、rs4975616和rs27361005个常见多态性位点与肺癌的相关性。方法收集2012-08-01-2014-08-30湖北省武汉地区病理确诊的肺癌患者304例作为研究组,样品来源为湖北省第三人民医院肿瘤科;选取同期该地区无肿瘤或其他疾病的正常人319名作为对照组,样品来源为湖北省第三人民医院体检中心。采用Sequenom公司的MassArray○RiPLEX系统对304例肺癌患者和319例对照样品的5个单核苷酸多态性（single nucleotide polymorphisms,SNP）位点进行检测。结果 5个SNP位点中,对照组rs4975616位点不符合Hardy-Weinberg平衡,在分析中舍去。关联分析的结果表明,仅rs2736100位点与肺癌的易感性相关,P=0.034;且rs2736100位点（C/C）型与（A/A）型相比,患病风险显著提高,OR=1.96,95%CI为1.13~3.41,P=0.008。连锁不平衡分析结果表明,rs402710和rs401681之间存在较强的连锁不平衡,D′=0.971,r2=0.910;rs401681和rs465498之间也存在较强的连锁不平衡,D′=0.986,r2=0.546;而rs2736100与rs402710、rs401681和rs465498之间无明显连锁不平衡现象。结论 汉族人群TERT-CLPTM1L基因的rs2736100位点与肺癌的易感性显著相关,（C/C）型的患者罹患肺癌的风险较（A/A）型高;而rs402710、rs401681和rs465498位点与肺癌的易感性无相关性。
OBJECTIVE To detect five single nucleotide polymorphisms（SNPs）of TERT-CLPTM1 L gene：rs402710,rs401681,rs465498,rs4975616,and rs2736100,and investigated the associations between them and susceptibility to lung cancer in Han nationnality of Hubei area.METHODS From 2012-08-01 to 2014-08-30,the 304 patients with lung cancer in Hubei were collected from Third People＇s Hospital of Hubei as the research group;The 319 healthy people with no tumor or other diseases from Medical examination center of Third People＇s Hospital of Hubei were selected as the control group.The Sequenom MassArray○RiPLEX System was used to detect five SNPs in 304 lung cancer cases and 319 controls.RESULTS In this five SNPs,rs4975616 was aborted because it did not match Hardy-Weinberg equilibrium.Of the remaining four SNPs,only rs2736100 was found to be significantly（P=0.034）associated with susceptibility to lung cancer,and C/C type was more susceptible compared with A/A type in rs2736100（OR=1.96,95%CI：1.13-3.41,P=0.008）.In the linkage disequilibrium analyses,strong linkage disequilibrium was observed between rs402710 and rs401681（D′=0.971,r2=0.910）,rs401681 and rs465498（D′=0.986,r2=0.546）.No linkage disequilibrium was found between rs2736100 and other three SNPs（rs402710,rs401681,rs465498）.CONCLUSIONS In TERT-CLPTM1 L gene in Chinese Han nationality,rs2736100 is found to be significantly associated with susceptibility to lung cancer,C/C type in the SNP is more susceptible than A/A type;while rs402710,rs401681,rs465498 have no significant association with lung cancer.
出处
《中华肿瘤防治杂志》
CAS
北大核心
2015年第14期1079-1083,共5页
Chinese Journal of Cancer Prevention and Treatment
基金
湖北省卫生厅青年人才基金(QJX2012-32)
