Methylenetetrahydrofolate reductase gene polymorphisms and risk of myeloid leukemia

Abstract

Objective: 5,10-Methylenetetrahydrofolate reductase (MTHFR) involved in folate metabolism has an important role in a cell because folate availability is critical for DNA integrity. This research aims to evaluate, in a case-controlled study, if the polymorphisms in MTHFR gene contribute to altering susceptibility to leukemias of acute myeloid leukemia (AML) and chronic myeloid leukemia (CML). Materials and Methods: Thirty-eight CML patients and 106 AML patients were diagnosed based on detection of BCR-ABL fusion gene by reverse transcription polymerase chain reaction (RT-PCR) and immunophenotyping by flow cytometry. A control group containing 97 healthy, age- and sex-matched individuals participated in this study. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in the patient and control groups were evaluated by using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) technique. We assessed the relationship between the MTHFR genotype and the risk of hematologic malignancies by calculating the odds ratio (OR) with a 95% confidence interval (CI) using conditional logistic regression. Results: The frequencies of CT and TT genotypes (of 677 allele) and AC and CC genotypes (of 1298 allele) among AML patients did not show a statistically significant difference when compared with those of the controls. Also, among CML patients, the frequencies of above stated genotypes did not show statistically significant differences compared with those of the controls. Conclusions: The data indicate that because of no statistical difference in the frequencies of MTHFR gene polymorphisms (C677T and A1298C) in the patient and control groups, these polymorphisms do not contribute to an inherited genetic susceptibility of AML and CML.