人染色体8p11(CHRNB3-CHRNA6)区域基因多态性与中国汉族人群肺癌易感性的相关性  

Human chromosome 8p11 (CHRNB3-CHRNA6) region gene polymorphisms and susceptibility to lung cancer in Chinese Han population

作　　者：张晓博[1] 赵振宏[1] 陈红岩[1] 王久存[1] 钱吉[1] 杨亚军[1] 魏庆义[2] 黄建[3] 卢大儒[1] 

机构地区：[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]美国德州大学M.D.Anderson癌症中心流行病学系,休斯顿tx770303721 [3]上海交通大学基础医学院生物化学与分子细胞生物学系,上海200025

出　　处：《遗传》2011年第8期886-894,共9页Hereditas（Beijing)

基　　金：上海市科委重点项目(编号:09JC1402200);上海市国际合作项目(编号:10410709100);上海市重点学科建设项目(编号:B111)资助

摘　　要：为探讨人染色体8p11（CHRNB3-CHRNA6）区域基因多态性与中国汉族人群肺癌遗传易感性之间的关系,文章采用病例-对照研究,对784例肺癌患者和782例性别、年龄、籍贯频数与之相匹配的健康对照中该区域6个标签SNP位点进行基因分型,并统计分析其基因型频率分布与肺癌易感性的关系,以及吸烟在其中的影响。结果发现rs16891561位点TT基因型在60岁以上人群（校正OR=0.42,95%CI=0.20-0.88;P=0.022）、女性人群（校正OR=0.34,95%CI=0.13-0.87;P=0.025）、非吸烟人群中（校正OR=0.32,95%CI=0.13-0.79;P=0.013）对肺癌发生具有保护效应;rs4236926位点TT基因型在60岁以上人群（校正OR=0.48,95%CI=0.23-0.99;P=0.048）、非吸烟人群（校正OR=0.32,95%CI=0.13-0.80;P=0.014）中对肺癌发生具有保护效应,这两种保护效应主要是与腺癌相关。对这两个位点进行累积效应分析发现,含有3-4个变异等位基因型的非吸烟者罹患肺癌的风险显著降低（校正OR=0.29,95%CI=0.11-0.71;P=0.007）,并且,含有3-4个变异等位基因型的个体累计吸烟量（＂包-年＂平均数=13.2）与其他个体相比显著降低。由此可见人染色体8p11（CHRNB3-CHRNA6）区域基因多态性与中国汉族人群肺癌易感性和吸烟行为相关。To investigate the association between chromosome 8p11（CHRNB3-CHRNA6） polymorphisms and lung cancer susceptibility in Chinese Han population,we genotyped 6 tag SNPs variants of this region among 784 patients with lung cancer and 782 age-and sex-matched cancer-free control participants to screen for any risk-associated SNPs.The results revealed that rs16891561 TT genotype had a protective effect against lung cancer in people over 60 years old（adjusted OR=0.42,95% CI=0.20-0.88;P=0.022）,female groups（adjusted OR=0.34,95% CI=0.13-0.87;P=0.025）,and non-smoking people（adjusted OR=0.32,95% CI=0.13-079;P=0.013）.Additionally,rs4236926 TT genotype had a protective effect against lung cancer in people over 60 years old（adjusted OR=0.48,95% CI=0.23-0.99;P=0.048） and non-smoking people（adjusted OR=0.32,95% CI=0.13-0.80;P=0.014）.According to pathological type of lung cancer,these two SNPs were associated with adenocarcinomas susceptibility.As to cumulative effect of rs4236926 and rs16891561,in non-smokers strata,lung cancer risk was significantly reduced in those who had 3-4 mutant alleles（adjusted OR=0.29,95% CI=0.11-0.71;P=0.007）.Furthermore,people containing 3-4 mutant alleles had lower level of smoking doses（mean pack-year=13.2） compared with others.In conclusion,8p11（CHRNB3-CHRNA6） polymorphisms are related to smoking behavior and lung cancer susceptibility in Chinese Han population.

关 键 词：8p11 CHRNB3 CHRNA6 单核苷酸多态性 肺癌易感性 

分 类 号：R734.2[医药卫生—肿瘤]