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目的 探讨人端粒酶逆转录酶(hTERT)基因5'调控区单核苷酸多态性(SNP)与肺癌发生易感性的关系.方法 选取2011年1月至2012年12月兰州大学第二医院病理组织学确诊的新发肺癌患者154例,男116例,女38例;平均年龄(57.3±11.6)岁;其中腺癌45例(29.2％),鳞癌55例(35.7％),小细胞癌54例(35.1％).选择同期在该院体检中心性别、年龄匹配的健康体检者222名作为对照,男174名,女48名,平均年龄(56.4±8.4)岁.采用ABI Prism SNaPshot方法,检测hTERT基因8个SNP位点(rs2735846、rs2735948、rs62329683、rs2736106、rs3888705、rs2736108、rs2736109和rs2735940)基因型,对SNP位点进行Hardy-Weiberg平衡检验,并计算各SNP位点等位基因频率及OR值.结果 除rs2736106外,7个hTERT基因5'SNP位点的基因型分布均符合Hardy-Weiberg平衡.其中rs2735846位点CG+CC基因型与GG基因型(即显性遗传模式)在病例组和对照组中具有显著的统计学差异(P ＜0.05).结论 hTERT基因rs2735846多态性与肺癌易感性有显著相关性,其等位基因C是肺癌的易感基因.

Objective To study the association between single nucleotide polymorphism (SNP) of human telomerase reverse transcriptase (hTERT) gene of 5'-upstream sequence and lung cancer.Methods From January 2011 to December 2012,blood samples and clinical data of 154 patients with lung cancer newly diagnosed by histopathology in the Second Hospital of Lanzhou University were collected,including 116 males and 38 females.Mean age was (57.3 ± 11.6) years old.There were 45 adenocarcinomas (29.2％),55 squamous carcinomas (35.7％),and 54 small cell lung cancers (35.1％).Matching controls included 174 males and 48 females,aging (56.4±8.4) years old.The genotypes of SNP (rs2735846,rs2735948,rs62329683,rs2736106,rs3888705,rs2736108,rs2736109,and rs2735940) in hTERT gene were determined with ABI Prism SNaPshot.And then Hardy-Weinberg equilibrium test,the allelic frequency,and odds ratio were calculated.Results Except rs2736106,other seven SNP of hTERT were in Hardy-Weinberg equilibrium in control group.In dominant model,the CG + CC and GG distribution of rs2735846 in lung cancer patients was significantly different from that in controls.Conclusions The results suggests that the rs2735846 SNP in 5'UTR of hTERT gene is associated with the risk of lung cancer.The allele C is the risk factor of lung cancer.