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

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

Autor Silva, LRJ da Google Scholar
Vergani, N. Google Scholar
Galdieri, L. D. Google Scholar
Porto, MPR Google Scholar
Longhitano, S. B. Google Scholar
Brunoni, D. Google Scholar
D'Almeida, V Google Scholar
Perez, ABA Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Assoc Pais & Amigos Excepcionais
Resumo Associations 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.
Palavra-chave MTHFR
MTRR
MTR
CBS
Down syndrome
homocysteine
Idioma Inglês
Data de publicação 2005-06-15
Publicado em American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 135A, n. 3, p. 263-267, 2005.
ISSN 1552-4825 (Sherpa/Romeo, fator de impacto)
Publicador Wiley-Blackwell
Extensão 263-267
Fonte http://dx.doi.org/10.1002/ajmg.a.30591
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000229415200003
Endereço permanente http://repositorio.unifesp.br/handle/11600/28343

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