The methylenetetrahydrofolate reductase (MTHFR) 677 C>T polymorphism increases the risk of developing chronic myeloid leukemia—a case-control study
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The methylenetetrahydrofolate reductase (MTHFR) 677 C>T and 1298 A>C polymorphisms are associated with variations in folate levels, a phenomenon linked to the development of various malignancies. The aim of this study was to investigate the influence of the 677 C>T and 1298 A>C polymorphisms in the MTHFR gene on the risk of developing chronic myeloid leukemia (CML). Our study included 151 patients with CML and 305 controls. The MTHFR 677 C>T and 1298 A>C polymorphisms were investigated by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and allele-specific PCR techniques. The CT and TT genotypes of the MTHFR 677 C>T polymorphism were associated with an increased risk of developing CML (odds ratio (OR) = 1.556, 95 % confidence interval (CI) = 1.017–2.381, p value = 0.041, and OR = 1.897, 95 % CI = 1.046–3.44, p value = 0.035, respectively). No association was observed between the prognostic factors (blasts, basophils, additional chromosomal abnormalities, EUTOS score, Sokal and Hasford risk groups) and the MTHFR 677 C>T and 1298 A>C variant genotypes in CML patients. Our study shows that the MTHFR 677 C>T polymorphism is significantly associated with the risk of CML in Romanian patients.
KeywordsMTHFR Polymorphisms Chronic myeloid leukemia
This work was financially supported by the Internal Research Grants of the University of Medicine and Pharmacy Tîrgu Mureş, Romania (grant number 2/30.01.2013).
Conflicts of interest
CB designed the research, performed genetic analysis, analyzed the data, and wrote the manuscript. MI analyzed the data. APT designed the research, performed genetic analysis, and wrote the manuscript. IM and DD collected the samples and patients’ data. MD designed the research and revised the manuscript.
- 1.Dima D, Trifa AP, Pațiu M, Vesa CS, Frinc IC, Petrov L, et al. Tyrosine kinase inhibitor treatment outcome in a single center cohort of chronic myeloid leukemia patients. The role of the T315I ABL kinase domain mutation. Rom Rev Med Lab. 2013;21:29–37.Google Scholar
- 16.Barbosa CG, Souza CL, Neto JP, Arruda BMG, Barreto JH, Reis MG, et al. Methylenetetrahydrofolate reductase polymorphisms in myeloid leukemia patients from Northeastern Brazil. Genet Mol Biol. 2008;31:29–32.Google Scholar
- 17.Pazhakh V, Razmkhah F, Farhad Z, Atashrazm F, Rasighaemi P. Methylenetetrahydrofolate reductase gene polymorphisms and risk of myeloid leukemia. Lab Med. 2011;41:490–4.Google Scholar
- 23.Lordelo GS, Miranda-Vilela AL, Akimoto AK, Alves PCZ, Hiragi CO, Nonino A, et al. Association between methylene tetrahydrofolate reductase and glutathione S-transferase M1 gene polymorphisms and chronic myeloid leukemia in a Brazilian population. Genet Mol Res. 2012;11:1013–26.CrossRefPubMedGoogle Scholar
- 27.Wu J, Li Y, Ma H, Bai J, Chen F, Fu S. Association between single nucleotide polymorphisms of MTHFR gene and susceptibility of psoriasis. Int J Genet. 2007;30:173–7.Google Scholar
- 31.de Deus DM, de Lima EL, Seabra Silva RM, Leite EP, Cartaxo Muniz MT. Influence of methylenetetrahydrofolate reductase C677T, A1298C, and G80A polymorphisms on the survival of pediatric patients with acute lymphoblastic leukemia. Leuk Res Treat. 2012;2012:292043.Google Scholar