目的：探讨共济失调毛细血管扩张症突变基因(ataxia telangiectasia mutated，ATM)rs227060位点单核苷酸多态性(single nucleotide polymorphisms，SNPs)与肺癌易感性之间的相关性。方法：采用聚合酶链反应–SNP敏感性分子开关方法，检测225例肺癌患者和128例健康体检者ATM基因rs227060多态位点等位基因以及基因型频率分布特点；并应用非条件Logistic回归法统计分析rs227060单核苷酸多态性与肺癌的相关性。结果：rs227060多态位点共检测出CC，CT，TT三种基因型和C，T两种等位基因，其在肺癌组与对照组的基因型分布频率为：CC基因型17.3%与29.7%、CT基因型61.4%与59.3%、TT基因型21.3%与11%，两组间基因型频率和等位基因频率分布差异均有统计学意义(P<0.05)。在对ATM rs227060基因型的多态性分析过程中发现：吸烟史在肺癌组与对照组相比差异无统计学意义(P>0.05)，而年龄、性别、肿瘤家族史在肺癌组与对照组相比差异均有统计学意义(P<0.05)；且以CC基因型作为对照，携带TT基因型的个体患肺癌的风险是携带CT基因型个体的3.49倍(OR=1.829；95%CI：1.045~3.199)。结论：ATM基因rs227060位点单核苷酸多态性与肺癌易感性存在相关性，且携带TT基因型可增加肺癌的发病风险。
Association between single nucleotide polymorphisms of rs227060 site in ATM gene and lung cancer susceptibility
Objective: To explore the correlation between the single nucleotide polymorphism (SNP) of rs227060 site in ATM gene and lung cancer susceptibility. Methods: A total of 225 lung cancer cases and 128 healthy normal control people were recruited into current study. The allele and the distribution frequency of genotype at the polymorphism of rs227060 loci in ATM gene was detected by PCR-On/Off Switch technique in all patients. The correlation between ATM rs227060 loci and lung cancer was analyzed with unconditional Logistic regression analysis. Results: Three genotypes, CC, CT, TT, and two alleles, C, T, were detected in the polymorphism allele of rs227060 loci, the distribution frequency of the genotype in lung cancer group and control group were CC (17.3% and 29.7%), CT (61.3% and 59.3%), TT (21.4% and 11%), the differences of the frequency of genotype and allele between two groups were not statistically significant (P<0.05). During the analysis of the polymorphism of ATM rs227060 genotype, the difference in smoking history was not statistically significant between the two groups (P>0.05), but in age, gender, family history of malignancy it was statistically different between the two groups (P<0.05). Compared with genotype CC, TT genotype increased the risk of lung cancer by 3.49 times than CT genotype (OR =1.829; 95%CI: 1.045–3.199). Conclusion: There was an association between the SNP of rs227060 site in ATM gene and lung cancer susceptibility, and carrying the TT genotype may increase the risk of lung cancer.