Polymorphisms Involved in Folate Metabolism Pathways and the Risk of the Development of Childhood Acute Leukemia

摘要

Objectives: Polymorphisms that reduce the activity of reduced folate carrier (RFC) and methylenetetrahydrofolate reductase (MTHFR) and double (2R2R) or triple (3R3R) 28-bp tandem repeats in the promoter region of thy-midylate synthase (TS) have been associated with the risk of childhood acute leukemia (AL). A case-control genotyping study was conducted in Brazilian children with the aim of investigating RFC, MTHFR, and TS polymorphisms as risk factors. Methods: The polymerase chain reaction-restriction fragment length polymor-phism method was employed in 177 AL cases and 390 controls. Results: The presence of the mutant 1298C, also RFC 80A, was linked to a decreased risk of developing acute lymphoid leukemia (ALL) (odds ratio (OR) = 0.46, 95% confidence interval (CI) = 0.30-071 and OR = 0.51, 95% CI = 0.28-0.0.93, respectively). Conclusions: The genotype 677 CT was associated with increased risk of developing ALL (OR = 1.6, 95% CI = 1.1-2.7). Further epidemiological study is needed to unravel the role of complex multiple gene-environment interactions in leukemogenesis.