Methylenetetrahydrofolate reductase (MTHFR): Incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida

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dc.contributor.authorPerez, Ana Beatriz Alvarez [UNIFESP]
dc.contributor.authorD'Almeida, Vania [UNIFESP]
dc.contributor.authorVergani, Naja [UNIFESP]
dc.contributor.authorOliveira, Allan Chiaratti de [UNIFESP]
dc.contributor.authorLima, Fernanda Teresa de [UNIFESP]
dc.contributor.authorBrunoni, Decio [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T12:33:51Z
dc.date.available2016-01-24T12:33:51Z
dc.date.issued2003-05-15
dc.description.abstractHomocysteine (Hcy) is converted to cysteine or is remethylated to methionine by methylenetetrahydrofolate reductase (MTHFR). MTHFR plays a central role in the metabolism of folate. Two common polymorphisms in the MTHFR gene (C677T and A1298C) have been described and studies suggest that these polymorphisms are positively associated with the occurrence of spina bifida (SB). Among Brazilians, the incidence of 677T allele homozygosity is 4%. We compared Hey levels with the genotypes obtained for the mutations C677T and A1298C in the gene MTHFR. Levels of plasma Hey were higher in children with SB than in controls (average 7.95 vs. 5.55 (mumol/L); P < 0.001). There was no significant difference in the levels of Hey for these childrens's mothers and controls (average 7.76 vs. 8.36 (&mu;mol/L); P = 0.27). Eighty one (61.8%) of the affected children were white and 50 (38.2%) were non-white. A similar ratio was observed in the mothers. in the control group, 51 children (40.5%) were white and 75 (59.5%) were non-white, and 52 mothers (41.3%) were white and 74 (58.7%) were non-white. There was no significant difference in the homozygous frequency for the mutated allele 677T among different racial groups. We obtained a prevalence of TT homozygosity of 10/131 (7.64%) in affected children and 13/126 (10.32%) in controls. With respect to the mutation A1298C, the homozygous prevalence for the wild allele was greater among non-white individuals than in white individuals both in case and control groups. Hyperhomocysteinemia is a risk factor for SB. However, in our population, the increase in plasma levels of Hey is not explained by the presence of the homozygous TT. It is possible that low folic acid intake combined with other genetic factors plays a more important role in the cause of this disease. (C) 2003 Wiley-Liss, Inc.en
dc.description.affiliationUNIFESP EPM, Ctr Med Genet, Dept Morfol & Pediat, BR-04020023 São Paulo, Brazil
dc.description.affiliationUnifespUNIFESP EPM, Ctr Med Genet, Dept Morfol & Pediat, BR-04020023 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent20-25
dc.identifierhttps://dx.doi.org/10.1002/ajmg.a.10059
dc.identifier.citationAmerican Journal of Medical Genetics Part A. New York: Wiley-liss, v. 119A, n. 1, p. 20-25, 2003.
dc.identifier.doi10.1002/ajmg.a.10059
dc.identifier.issn0148-7299
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/27253
dc.identifier.wosWOS:000182511800004
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.subjectMTHFRen
dc.subjectPolymorphismen
dc.subjectNeural tube defectsen
dc.subjectHomocysteineen
dc.subjectFolic aciden
dc.subjectSpina bifidaen
dc.titleMethylenetetrahydrofolate reductase (MTHFR): Incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifidaen
dc.typeinfo:eu-repo/semantics/article
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