dc.creatorAléssio, Ana Claudia M
dc.creatorAnnichino-Bizzacchi, Joyce M
dc.creatorBydlowski, Sergio P
dc.creatorEberlin, Marcos N
dc.creatorVellasco, Adriana P
dc.creatorHöehr, Nelci Fenalti
dc.date2004-Jul
dc.date2015-11-27T12:58:15Z
dc.date2015-11-27T12:58:15Z
dc.date.accessioned2018-03-29T00:59:11Z
dc.date.available2018-03-29T00:59:11Z
dc.identifierAmerican Journal Of Medical Genetics. Part A. v. 128A, n. 3, p. 256-60, 2004-Jul.
dc.identifier1552-4825
dc.identifier10.1002/ajmg.a.30108
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/15216546
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/195839
dc.identifier15216546
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1296072
dc.descriptionHyperhomocysteinemia is a risk factor for thrombosis, and methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) polymorphisms, folate, and B12 levels could contribute to plasma homocysteine (Hcy) variation. Although well established in adults, few studies have been performed in childhood. In this study, we investigated association of polymorphisms C677T and A1298C in the MTHFR gene and A66G in the MTRR gene with Hcy levels in children. These polymorphisms, as well as Hcy, folate, and vitamin B12 levels were investigated in 220 normal children with ages ranging from 1 to 8 years. Plasma Hcy, folate, and vitamin B12 levels were normal in all children. None of the polymorphisms could be considered an independent risk factor for hyperhomocysteinemia during childhood. The median Hcy levels in 37 children (17%) doubly heterozygous for C677T and A1298C mutations in the MTHFR gene were not different from the other genotypes. However, the association of the different genotypes with Hcy, folate, and vitamin B12 levels demonstrated significant P-values. The folate levels demonstrated a statistically significant decrease (P = 0.0477) from the C677T mutation in the MTHFR gene (TT genotype) when compared to the other groups. Folate was the only independent risk factor for hyperhomocysteinemia. Thus, monitoring the concentrations of folate would be more helpful for evaluating hyperhomocysteinemia and for preventing cardiovascular disease.
dc.description128A
dc.description256-60
dc.languageeng
dc.relationAmerican Journal Of Medical Genetics. Part A
dc.relationAm. J. Med. Genet. A
dc.rightsfechado
dc.rightsCopyright 2004 Wiley-Liss, Inc.
dc.sourcePubMed
dc.subjectBrazil
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectFerredoxin-nadp Reductase
dc.subjectFolic Acid
dc.subjectHomocysteine
dc.subjectHumans
dc.subjectHyperhomocysteinemia
dc.subjectInfant
dc.subjectMethylenetetrahydrofolate Reductase (nadph2)
dc.subjectPolymorphism, Genetic
dc.subjectRisk Factors
dc.subjectVitamin B 12
dc.titlePolymorphisms In The Methylenetetrahydrofolate Reductase And Methionine Synthase Reductase Genes And Homocysteine Levels In Brazilian Children.
dc.typeArtículos de revistas


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