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

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.