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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
引用本文:范祖鹏,彭群新,高歌,吴文婷,钱吉,陈红岩.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[J].癌变.畸变.突变,2010,22(4):265-270.
作者姓名:范祖鹏  彭群新  高歌  吴文婷  钱吉  陈红岩
作者单位: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
基金项目:上海市科委重大项目,上海市公共卫生优秀学科带头人培养计划,国家自然科学基金青年基金 
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

Association between single nucleotide polymorphisms in human POLE1 and susceptibility to lung cancer
FAN Zu-peng,PENG Qun-xin,GAO Ge,WU Wen-ting,QIAN Ji,CHEN Hong-yan.Association between single nucleotide polymorphisms in human POLE1 and susceptibility to lung cancer[J].Carcinogenesis,Teratogenesis and Mutagenesis,2010,22(4):265-270.
Authors:FAN Zu-peng  PENG Qun-xin  GAO Ge  WU Wen-ting  QIAN Ji  CHEN Hong-yan
Institution:FAN Zu-peng1,PENG Qun-xin2,GAO Ge1,WU Wen-ting1,QIAN Ji1,CHEN Hong-yan1(1.State Key Laboratory of Genetic Engineering,The Institute ofGenetics,School of Life Science,Fudan University,Shanghai 200433;2.Department of Clinical Laboratories,The First Affiliated Hospital of Suzhou University,Suzhou 215006,Jiangsu,China)
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.
Keywords:POLE1
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