Relationship between MTHFR gene polymorphisms (C677T and A1298C) and chronic lymphocytic leukemia in the Turkish population

Abstract Objective Chronic lymphocytic leukemia (CLL) is a neoplastic disease that influences B cell lymphocytes. CLL is the most common kind of leukemia accounting for approximately 30% of all hematological malignancies. The functions of MTHFR enzyme are a critical juncture in the DNA synthesis, and in methylation of metabolic reactions. Two common genetic polymorphisms, C677T and A1298C, are associated with reduced enzyme activity. We evaluated the association between MTHFR gene polymorphisms and the CLL risk. Materials and methods In the present study, MTHFR gene polymorphisms were investigated in a case-control study of 91 patients with CLL and 101 healthy control subjects using real time polymerase chain reaction (RT-PCR) assay in the Turkish population. Results u0026 conclusion The patients carrying 1298C allele or 1298CC genotype had a higher risk of CLL ( P  = .04, P  = .005, respectively). Moreover, the patients carrying 677TT genotype had a lower risk of CLL than the other patients carrying 677CC and 677CT genotypes in recessive model ( P  = .03). Additionally, the CA haplotype block showed a protective effect against the risk of CLL (the C677/A1298, P  = .0013). In conclusion, our results demonstrate for the first time MTHFR gene C677T and A1298C polymorphisms, especially A1298C, have a major effect on the risk of CLL in the Turkish patients. We suggest that considering the first contradictory results in Caucasians, further additional studies are necessary to elucidate the relationship of these polymorphisms with the risk of CLL disease in Caucasian populations.