The role of genetic polymorphisms of the MTHFR (C677T and A1298C) gene in the incidence of Acute Myeloid Leukaemia

Background: The burden of cancer is growing globally as one of the leading fatal diseases. Methylenetetrahydrofolate reductase (MTHF is a central enzyme involved in the metabolism of folate methylation of DNA and synthesis.

Aim: To investigate the role of genetic polymorphisms of the MTHFR (C677T and A1298C) gene in the incidence of acute myeloid leukemia (AML) in different populations from Sudan.

Methods: K3EDTA blood samples of 3 ml were collected from patients and controls and recorded at the flow cytometry Unit of the Radiation and Isotope Centre Khartoum (RICK), from 06/2016 to 06/2018. Polymorphisms of the MTHFR gene, C677T and A1298C were genotyped by polymerase chain reaction /restriction fragment length polymorphism (PCR-RFLP) in 200 Sudanese AML patients, and 65 apparently healthy controls.

Results: The study showed cases with the A1298C polymorphism had no associated risk of AML (1298 AC: p = 0.262; 1298CC: p = 0.063). However, individuals with the C677T polymorphism had a significantly reduced risk of AML (677CT: p = 0.00; 677TT: p = 0.559).

Conclusions: In summary, this case-control study demonstrates that A1298C rather than C677T MTHFR polymorphisms may have a protective effect in AML carcinogenesis among the Sudanese study group.