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BIBTEX RIS

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

2013; Mary Ann Liebert, Inc.; Volume: 17; Issue: 2 Linguagem: Inglês

10.1089/gtmb.2012.0174

1945-0265

Rafaela Maria Seabra Silva, Alide Caroline Lima Fontes, Karina Alves da Silva, Thalita Araújo Sant’Ana, Flávio José da Costa Ramos, Terezinha de Jesus Marques-Salles, Maria S. Pombo‐de‐Oliveira, Maria Tereza Cartaxo Muniz,

DNA Repair Mechanisms

Objective: 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 thymidylate 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 polymorphism 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.