BackgroundMethylenetetrahydrofolate reductase (MTHFR) plays a critical role in folate metabolism and displays common genetic polymorphisms affecting the enzyme activity. TheMTHFRgenetic polymorphisms have been associated with a decrease in the risk of developing the lymphoid but not myeloid form of pediatric and adult leukemias.AimIn this study we describe the genotyping of theMTHFR C677Tpolymorphism by melting curve analysis with the LightCyclerreg;in a case-controlled study of patients with acute lymphocytic leukemia (ALL), myelogenous leukemia (AML), and chronic myelogenous leukemia (CML), and assess the effect of this common polymorphism on the leukemia risk in adult patients in Turkey.MethodsDNA from peripheral blood lymphocytes was used for genotyping in the LightCyclerreg;PCR by melting curve analysis. The risk of leukemia associated with theMTHFRpolymorphism was evaluated by comparing the genotype frequencies between the control and patient groups.ResultsThe frequency of the homozygote variant genotype (677TT) was lower than that in healthy individuals in all three leukemia groups. The677TTgenotype did not appear to have a protective effect in patients with ALL (Odds ratio OR = 0.78 with a 95 confidence interval CI = 0.24ndash;2.59), compared with healthy controls. The difference was higher (4.3-fold) in patients with AML, but still non-significant (OR = 0.23 with a 95 CI = 0.03ndash;1.83). In patients with CML, the frequencies of both heterozygous (677CT) and homozygote variant genotypes were lower (OR = 0.72 and 0.66, respectively).ConclusionsOur results suggest that theMTHFR C677Tpolymorphism displays a similar distribution pattern in lymphoid and myeloid leukemias and that the frequency of the homozygote variant genotype (677TT) is lower in all leukemia types.
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