title: MTHFR 677C-->T and 1298A-->C polymorphisms in children with Down syndrome and acute myeloid leukemia in Brazil.
abstract: 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.
authors.affiliation: Pediatric Hematology-Oncology Program, Instituto Nacional de Cancer, Rio de Janeiro, Brazil. mpombo@inca.gov.br
authors.forename: Marcia R
authors.initials: MR
authors.lastname: Amorim
authors.forename: Crisiane Wais
authors.initials: CW
authors.lastname: Zanrosso
authors.forename: Isis Q
authors.initials: IQ
authors.lastname: Magalhães
authors.forename: Simone C
authors.initials: SC
authors.lastname: Pereira
authors.forename: Alexandre
authors.initials: A
authors.lastname: Figueiredo
authors.forename: Mariana
authors.initials: M
authors.lastname: Emerenciano
authors.forename: Vitoria Regia
authors.initials: VR
authors.lastname: Pinheiro
authors.forename: Maria Lydia
authors.initials: ML
authors.lastname: d'Andréa
authors.forename: Ieda M
authors.initials: IM
authors.lastname: Orioli
authors.forename: Sergio
authors.initials: S
authors.lastname: Koifman
authors.forename: Maria S
authors.initials: MS
authors.lastname: Pombo-de-Oliveira
mesh_terms: D001938:Brazil / Q000453:epidemiology; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015470:Leukemia, Myeloid, Acute / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D017720:Molecular Epidemiology; D011110:Polymorphism, Genetic
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)