Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil

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dc.contributor.authorSilva, LRJ da
dc.contributor.authorVergani, N.
dc.contributor.authorGaldieri, L. D.
dc.contributor.authorPorto, MPR
dc.contributor.authorLonghitano, S. B.
dc.contributor.authorBrunoni, D.
dc.contributor.authorD'Almeida, V
dc.contributor.authorPerez, ABA
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionAssoc Pais & Amigos Excepcionais
dc.date.accessioned2016-01-24T12:37:54Z
dc.date.available2016-01-24T12:37:54Z
dc.date.issued2005-06-15
dc.description.abstractAssociations between specific alleles of genes encoding enzymes in the methionine/homocysteine pathway and plasma homocysteine levels have been examined in different populations. in the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. Homocysteine levels were higher among DS mothers compared to control groups (10.437 vs. 8.600 respectively, P = 0.002). Only the 677T allele was associated with altered levels of tHcy in the case group (F(2,153) = 5.300; P = 0.006), primarily when homozygous. in the control group, the association of the TT genotype with higher levels of tHcy showed borderline significance (F(2,157) = 2.974; P = 0.054). All genotype distributions were similar in the two groups (P > 0.05), but the frequency of the 677T allele in the case group was significantly higher (X-2 = 3.862; DF = 1; P = 0.049; OR = 1.437 (1.001-2.062)). Although the 677T allele is associated with increased homocysteine levels, its presence has only a modest impact as an independent risk factor for DS. All the other polymorphisms did not show an association with risk for the syndrome, when evaluated separately (P > 0.05). However, when the presence of 677T, 1298C, 2756G, 66G, and 844ins68 alleles were evaluated together, the mothers of children with DS tend to have a higher number of uncommon alleles than the mothers with no previous affected child. (c) 2005 Wiley-Liss, Inc.en
dc.description.affiliationUNIFESP, EPM, Ctr Genet Med, Dept Morfol & Pediat, BR-04020023 São Paulo, Brazil
dc.description.affiliationAssoc Pais & Amigos Excepcionais, São Paulo, Brazil
dc.description.affiliationUnifespUNIFESP, EPM, Ctr Genet Med, Dept Morfol & Pediat, BR-04020023 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent263-267
dc.identifierhttp://dx.doi.org/10.1002/ajmg.a.30591
dc.identifier.citationAmerican Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 135A, n. 3, p. 263-267, 2005.
dc.identifier.doi10.1002/ajmg.a.30591
dc.identifier.issn1552-4825
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/28343
dc.identifier.wosWOS:000229415200003
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.subjectMTRRen
dc.subjectMTRen
dc.subjectCBSen
dc.subjectDown syndromeen
dc.subjecthomocysteineen
dc.titleRelationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazilen
dc.typeinfo:eu-repo/semantics/article
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