Tumor Biology

, Volume 36, Issue 4, pp 3101–3107 | Cite as

The methylenetetrahydrofolate reductase (MTHFR) 677 C>T polymorphism increases the risk of developing chronic myeloid leukemia—a case-control study

  • Claudia Bănescu
  • Mihaela Iancu
  • Adrian P. Trifa
  • Ioan Macarie
  • Delia Dima
  • Minodora Dobreanu
Research Article


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.


MTHFR 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


Author contributions

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.


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Copyright information

© International Society of Oncology and BioMarkers (ISOBM) 2014

Authors and Affiliations

  • Claudia Bănescu
    • 1
  • Mihaela Iancu
    • 2
  • Adrian P. Trifa
    • 3
  • Ioan Macarie
    • 4
  • Delia Dima
    • 5
  • Minodora Dobreanu
    • 6
  1. 1.Department of Medical GeneticsUniversity of Medicine and PharmacyTirgu MuresRomania
  2. 2.Department of Medical Informatics and Biostatistics“Iuliu Hatieganu” University of Medicine and PharmacyCluj-NapocaRomania
  3. 3.Department of Medical Genetics“Iuliu Hatieganu” University of Medicine and PharmacyCluj-NapocaRomania
  4. 4.Hematology Clinic 1University of Medicine and PharmacyTirgu MuresRomania
  5. 5.Department of Hematology“Ion Chiricuta” Cancer InstituteCluj-NapocaRomania
  6. 6.Department of Laboratory MedicineUniversity of Medicine and PharmacyTirgu MuresRomania

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