中文摘要：

目的：探讨人类DNA聚合酶ε基因POLE1单核苷酸多态性（SNP）与肺癌易感性间的关系。方法：采用病例对照研究方法,选择经组织学确诊的肺癌患者462例,以及相同地区,性别年龄频数匹配的对照466例,针对经筛选的5个SNP进行基因型检测,通过统计分析研究基因频率与肺癌风险的关系,并探讨吸烟在其中的影响。结果：病例组rs5744738基因频率分布高于对照组（P〈0.05）。A/A纯合变异携带人群的患肺癌风险显著降低（校正OR=0.47,95%CI：0.25～0.91）。在分层分析中,60岁以上人群患肺癌的风险显著下降（校正OR=0.28,95%CI：0.09～0.91）,无患肿瘤家族史人群下降到0.42倍（校正OR=0.42,95%CI：0.19～0.90）。随着吸烟量的增加,G/G或G/A基因型人群肺癌风险显著升高。rs5744962变异位点（T→C）可提高非吸烟人群的患肺癌风险至1.75倍（95%CI：1.02～3.00）。结论：选取的5个人类POLE1基因SNP的多态性可能与中国汉族人群肺癌遗传易感性有关,在携带rs5744738及与之紧密连锁的rs4883545、rs5744873突变纯合基因的人群,患肺癌的风险显著降低,而携带rs5744962、rs5745047突变基因位点的非吸烟人群患肺癌的风险升高。

英文摘要：

OBJECTIVE：To assess the association between the POLE1 SNPs and lung cancer susceptibility.METHODS：The genotypes and allele frequencies of 5 SNPs（rs5745047,rs5744962,rs5744873,rs5744738,rs4883545）of POLE1 gene were calculated and analyzed in 462 histologically confirmed lung cancer cases and 466 cancer-free controls in a Chinese Han population.RESULTS：People with rs5744738 A/A genotype had a decreased lung cancer risk of 0.47 times（95%CI：0.25-0.91）,0.28 times in the age group of over 60（95%CI：0.09-0.91）,and 0.42 times in non-family cancer history group（95%CI：0.19-0.90）.The joint effect analysis showed that G/G or G/A carriers had a significant rise in lung cancer risk with increasing smoking.The rs5744962 C allele non-smoking carriers had an 1.75 folds lung cancer risk（95%CI：1.02-3.00）.CONCLUSION：The population with homologous mutations of rs5744738,rs4883545 and rs5744873 showed significant decline in lung cancer risk,while the non-smoking carriers of rs5744962 and rs5745047 mutation allele had an increased lung cancer risk.