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Medical Science Monitor Basic Research


eISSN: 1643-3750

Association between MTHFR C677T Polymorphism and Risk of Acute Lymphoblastic Leukemia: A Meta-Analysis Based on 51 Case-Control Studies

Su-yi Li, Jie-yu Ye, En-yu Liang, Li-xia Zhou, Mo Yang

Laboratory of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China (mainland)

Med Sci Monit 2015; 21:740-748

DOI: 10.12659/MSM.892835

Available online:

Published: 2015-03-12


Background: Studies and systematic reviews have reached inconsistent conclusions on the role of 5, 10-methylenetetrahydrofolate reductase (MTHFR) polymorphism C677T in acute lymphoblastic leukemia (ALL) risk.
Material and Methods: The present meta-analysis comprising of 51 case-control studies, including 7892 cases and 14 280 controls was performed to reevaluate the association between MTHFR C677T polymorphism and ALL risk.
Results: Statistical differences were found in the dominant model (TT+CT vs. CC, odd ratio (OR)=0.89, 95% CI, 0.79–1.00, P=0.04) and the CT vs. CC (OR=0.89, 95% CI, 0.80–1.00, P=0.05), but not in the allele contrast model (T vs. C, OR=0.92, 95% CI, 0.84–1.01, P=0.08), additive model (TT vs. CC, OR=0.87, 95% CI, 0.73–1.05, P=0.15), or recessive model (TT vs. CT+CC, OR=0.94, 95% CI, 0.81–1.10, P=0.44) in overall populations. In the subgroup analyses stratified by age (children and adults) and ethnicity (Asian and Caucasian), no significant associations between MTHFR C677T polymorphism and ALL risk were observed.
Conclusions: The current study found no sufficient evidence of a protective role of MTHFR C677T polymorphism in ALL susceptibility.

Keywords: Case-Control Studies, Age Factors, Ethnic Groups - genetics, Genetic Association Studies, Genetic Predisposition to Disease, Methylenetetrahydrofolate Reductase (NADPH2) - genetics, Polymorphism, Single Nucleotide - genetics, Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics, Publication Bias, Risk Factors