Background: Genetic polymorphisms of Methylenetetrahydrofolate reductase (MTHFR) enzyme have been shown to impact several diseases. Leukemias as acute lymphoblastic (ALL) are malignancies arising from rapidly proliferating hematopoietic cells having great requirement of DNA synthesis. The aim of our study was to evaluate the frequency and the associations between the MTHFR 677C→T and MTHFR 1298A→C polymorphisms and the risk of ALL. Also, the prognostic significance of MTHFR polymorphism in children with acute lymphoblastic leukemia was evaluated. MATERIALS AND METHODS: The recruited patients with a confirmed diagnosis of acute lymphoblastic leukemia (ALL) comprised 28 males and 22 females between the ages of 0.5 and 15 years (mean age 6.17±3.68).Fifty two children with matched age and sex as a control group were taken for this study. Analysis of the polymorphisms was done using the polymerase chain reaction-restriction fragment length polymorphism (PCR-REFLP) method. RESULTS: No statistically significant differences were observed in frequency for different genotypes between patients and controls (p>0.05). No statistically significant difference was found for the risk of ALL in cases and controls having different genotypes of MTHFR T677C and A1298C or combined polymorphism(P>0.05).A1298C CC genotype is an independent unfavorable prognostic predictor for OS and DFS (HR=7.660,p=0.021,HR=4.335,p=0.023 respectively). Frequency of two polymorphisms in patients and controls were the same, which may be due to the small sample size. CONCLUSION: There was no association between MTHFR T677C and A1298C gene polymorphisms and risk of ALL and did not show significant effect on progression and development of childhood ALL but, A1298C CC genotype is an independent unfavorable prognostic predictor for OS and DFS. |
