目的研究中国大陆人群亚甲基四氢叶酸还原酶(MTHFR)基因遗传位点C677T和A1298C多态性与肺癌的关联性。方法通过PubMed和CNKI等数据库检索有关MTHFR基因与肺癌的文献,收集和整理中国大陆人群MTHFR基因遗传位点C677T和A1298C与肺癌有关4 781例数据,进行Meta分析和关联性研究。结果 MTHFR基因遗传位点C677T的等位基因分布和基因型分布对应的假设检验的概率分别为2.6×10-3、9.4×10-3,表明病例对照差异有统计学意义(P<0.05);Meta分析对等位基因T的优势比OR值(95%CI)为1.28(1.16～1.41)。遗传位点A1298C的等位基因分布对应的假设检验概率分别为0.713和0.944,说明假设检验差异无统计学意义(P>0.05),Meta分析对等位基因A的优势比OR值(95%CI)为1.04(0.85～1.27)。结论 MTHFR基因的单核苷酸C677T多态性是中国大陆人群肺癌的遗传变异位点,A1298C多态性不是中国大陆人群肺癌的风险因素。 Objective To investigate the association of C677T and A1298C genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene with lung cancer in Chinese mainland. Methods The databases of MTHFR gene and lung cancer were searched through PubMed and CNKI databases. The data of 4 781 cases related to lung cancer and MTHFR genetic loci C677T and A1298C in mainland China were collected and analyzed, and Meta-analysis and correlation study were conducted. Results The allele distribution and genotype distribution of C677T in the MTHFR gene locus were 2.6 × 10-3 and 9.4 × 10-3, respectively, indicating that the difference between the two groups was statistically significant (P <0.05). The odds ratio (95% CI) of the meta-analysis for allele T was 1.28 (1.16-1.41). The allelomical distribution of allele A1298C showed that the probability of hypothesis test was 0.713 and 0.944, respectively, indicating that the hypothesis test showed no significant difference (P> 0.05). Meta analysis showed that odds ratio (95% CI) of allele A ) Was 1.04 (0.85 to 1.27). Conclusion The single nucleotide C677T polymorphism of MTHFR gene is a genetic variation locus of lung cancer in Chinese mainland. The A1298C polymorphism is not a risk factor of lung cancer in Chinese population.