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Lung cancer is the most frequently occurring type of cancer worldwide and the leading cause of cancer mortality. Environmental and genetic factors play important roles in lung carcinogenesis. The aim of this meta-analysis was to investigate the association between methylenetetrahydrofolate reductase (MTHFR) polymorphism and the risk of lung cancer in East Asian populations. Related articles were identified through searching literature databases, such as PubMed, EMBASE, Web of Science, Chinese Biomedicine and CNKI. The odds ratio (OR) values in those studies were incorporated by meta-analysis to assess lung cancer susceptibility associated with the MTHFR mutation genotype. The MTHFR C677TT genotype exhibited a significantly increased risk of lung cancer compared to the MTHFR 677CC/CT genotype (OR=1.24; 95% CI, 1.01-1.52). No relationship was identified between the other MTHFR C677T genetic models and the risk of lung cancer and there was no significantly increased risk of lung cancer in A1298C genetic models. In a subgroup of hospital-based controls, according to the source of controls, the C677TT genotype exhibited a significantly increased risk of lung cancer, compared to the C677CC genotype (OR=3.01; 95% CI, 1.07-8.46). In the stratified analysis, the study indicated that the MTHFR 677TT genotype was associated with a significant increase in the risk of lung squamous carcinoma (OR=1.53; 95% CI, 1.09-2.14), whereas no association was observed between the MTHFR C677TT genotype and the risk of lung adenocarcinoma. No association was observed between MTHFR C677TT polymorphism and the risk of lung cancer when smoking was considered. In conclusion, the meta-analysis results suggested that MTHFR C677T polymorphisms exhibit a significantly increased risk of lung cancer and that the MTHFR 677TT genotype is associated with a significantly increased risk of lung squamous carcinoma.

Meta-analysis on MTHFR polymorphism and lung cancer susceptibility in East Asian populations