【摘要】 目的探讨N-乙酰基转移酶(NAT2)和肺癌遗传易感性的关系。方法对500对医院来源的肺癌病例和对照收集其外周静脉血,提取基因组DNA后,应用illum ina分型技术对NAT2基因各功能位点进行分型,并对分型数据进行了统计学分析。结果rs7832071、rs1208(lys263 arg)的等位基因增加了肺癌的患病风险(OR=1.49,95%C I:1.04-2.13;OR=1.76,95%C I:1.21-2.55),且因二者之间的紧密连锁(R2=0.971),因此rs1208可能为一肺癌风险位点,rs7832071则可能是该风险位点的标签位点。对吸烟与否分层分析证实,在当前吸烟者中rs7832071、rs1208杂合型增加了患肺癌的风险性(OR=1.48,95%C I:1.03-2.15;OR=2.20,95%C I:1.05-4.62)。结论NAT2 rs1208(lys263 arg)为一肺癌患病风险位点。更多还原

【Abstract】 Objective To investigate the association between N-acetyltransferase2(NAT2) 7 functional SNPs and lung cancer genetic susceptibility.Methods Venous blood samples of 507 healthy controls and 500 lung cancer patients were collected,and genomic DNA was extracted.Illumina genotyping method was used to determined the genotype of NAT2.The genotyping results were analysed with statistic methods.Results Both rs 7832071 allele T and rs1208(lys263arg) allele G increased the risk of lung cancer(OR=1.49, 95%CI 1.04-2.13;OR=1.76,95%CI 1.21-2.55).According to their positions in mRNA,we inferred that rs1208 might be one of the real risk SNPs in NAT2.Stratified analysis according to the smoking status proved that rs7832071、rs1208 could increase the risk of lung cancer in current smoker(OR=1.48,95%CI 1.03-2.15;OR=2.20,95%CI 1.05-4.62).Conclusion NAT2 rs1208(lys263arg) may be one of the lung cancer risk SNPs.更多还原