MTHFR 677C→T And 1298A→C POLYMORPHISMS IN CHILDREN WITH DOWN SYNDROME AND ACUTE MYELOID LEUKEMIA IN BRAZIL

• Published in: Pediatric hematology and oncology 2008-01, Vol.25 (8), p.744-750
• Main Authors: Amorim, Márcia R., Zanrosso, Crisiane Wais, Magalhães, Isis Q., Pereira, Simone C., Figueiredo, Alexandre, Emerenciano, Mariana, Pinheiro, Vitória Regia, d'Andréa, Maria Lydia, Orioli, Iêda M., Koifman, Sergio, Pombo-de-Oliveira, Maria. S.
• Format: Article
• Language: English
• Subjects: 1298A→C; 677C→T; acute leukemia; Brazil - epidemiology; Case-Control Studies; Child; Child, Preschool; Down syndrome; Down Syndrome - complications; Down Syndrome - genetics; Female; Genetic Predisposition to Disease; Genotype; Humans; Infant; Infant, Newborn; Leukemia, Myeloid, Acute - epidemiology; Leukemia, Myeloid, Acute - etiology; Leukemia, Myeloid, Acute - genetics; Male; Methylenetetrahydrofolate Reductase (NADPH2) - genetics; Molecular Epidemiology; MTHFR; Polymorphism, Genetic
• ISSN: 0888-0018; 1521-0669
• DOI: 10.1080/08880010802435104

Down syndrome (DS) is an important risk factor associated with acute leukemia (AL). The presence of polymorphisms that reduce 5,10-methylenetetrahydrofolate reductase (MTHFR) activity has been linked to the multifactorial leukemogenic process. The authors have conducted a study to test whether 677C→T and/or 1298A→C polymorphisms of MTHFR would play an additional role in susceptibility of acute myeloid leukemia (AML) in DS children. They also verified whether any polymorphism in the MTHFR gene was associated with the risk of DS. Genetic polymorphisms determination was carried out in 248 samples from healthy individuals as controls and a total of 115 DS children (65 without leukemia and 50 with AML). The present study failed to reveal any association between these polymorphisms and risk of AML in DS children. The data also indicate that MTHFR polymorphisms are not associated with risk of being a DS child.