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目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态与肺癌风险的关系。方法以聚合酶链反应和限制性片段长度多态性分析方法检测505例肺癌患者和500名正常对照者MTHFRC677T和A1298C基因型;用EH软件构建了这两个多态的单体型;以比值比(OR)及其95%可信区间(CI)比较不同基因型的肺癌相对风险度。结果C677T突变等位基因频率在肺癌患者和正常对照者中的分布差异具有显著性(53.5%vs44.9%,P<0.001)。与MTHFR677CC基因型比较,677CT和TT基因型患肺癌的风险分别增加1.43(95%CI?1.04～1.95)和2.40(95%CI?1.61～3.59)倍。MTHFR基因677T-1298A单体型频率在病例组和对照组中分布差异具有显著性(P<0.05)。未发现MTHFRA1298C基因多态与肺癌风险相关。结论MTHFR基因变异可增加患肺癌的风险。
Objective To investigate the relationship between methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and the risk of lung cancer. Methods The genotypes of MTHFRC677T and A1298C in 505 lung cancer patients and 500 normal controls were detected by polymerase chain reaction and restriction fragment length polymorphism. The haplotypes of these two polymorphisms were constructed by using EH software. OR and 95% Confidence Interval (CI) were used to compare the relative risk of lung cancer among different genotypes. Results The allele frequency of C677T mutation was significantly different between lung cancer patients and normal controls (53.5% vs 44.9%, P <0.001). Compared with the MTHFR677CC genotype, the risk of lung cancer of the 677CT and TT genotypes increased by 1.43 (95% CI? 1.04-1.95) and 2.40 (95% CI 1.61-3.59) times, respectively. MTHFR gene 677T-1298A haplotype frequencies in the case group and control group distribution was significant (P <0.05). MTHFRA1298C gene polymorphism was not found associated with lung cancer risk. Conclusion MTHFR gene mutation may increase the risk of lung cancer.