癌变·畸变·突变 ›› 2010, Vol. 22 ›› Issue (4): 265-270.doi: 10.3969/j.issn.1004-616x.2010.04.004

• 论著 • 上一篇    下一篇

中国汉族人群DNA聚合酶ε基因POLE1单核苷酸多态性与肺癌易感性的关系

范祖鹏1;彭群新2;高歌1;吴文婷1;钱吉1;陈红岩1   

  1. 1. 复旦大学生命科学学院遗传工程国家重点实验室,上海 200433； 2. 苏州大学第一附属医院检验科,苏州 215006
  • 收稿日期:2010-01-27 修回日期:2010-05-13 出版日期:2010-07-30 发布日期:2010-07-30
  • 通讯作者: 钱吉

Association between single nucleotide polymorphisms in human POLE1 and susceptibility to lung cancer

FAN Zu-peng1;PENG Qun-xin2;GAO Ge1;WU Wen-ting1;QIAN Ji1;CHEN Hong-yan1   

  1. 1. State Key Laboratory of Genetic Engineering, The Institute of Genetics, School of Life Science, Fudan University, Shanghai 200433; 2. Department of Clinical Laboratories, The First Affiliated Hospital of Suzhou University, Suzhou 215006, Jiangsu, China
  • Received:2010-01-27 Revised:2010-05-13 Online:2010-07-30 Published:2010-07-30
  • Contact: QIAN Ji

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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。

关键词: 肺癌, 关联研究, 单核苷酸多态性, 遗传易感性, POLE1

Abstract: 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.

Key words: lung cancer, association study, single nucleotide polymorphisms, susceptibility, POLE1

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