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Type: Artigo
Title: Polymorphism C1420T of serine hydroxymethyltransferase gene on maternal risk for down syndrome
Author: Marucci, Gustavo Henrique
Zampieri, Bruna Lancia
Biselli, Joice Matos
Valentin, Sendi
Bertollo, Eny Maria Goloni
Eberlin, Marcos Nogueira
Haddad, Renato
Riccio, Maria Francesca
Vannucchi, Hélio
Carvalho, Valdemir Melechco
Pavarino, Érika Cristina
Abstract: Recent researches have investigated the factors that determine the maternal risk for Down syndrome (DS) in young woman. In this context, some studies have demonstrated the association between polymorphisms in genes involved on folate metabolism and the maternal risk for DS. These polymorphisms may result in abnormal folate metabolism and methyl deficiency, which is associated with aberrant chromosome segregation leading to trisomy 21. In this study, we analyzed the influence of the polymorphism C1420T in Serine hydroxymethyltransferase (SHMT) gene on maternal risk for DS and on metabolites concentrations of the folate pathway (serum folate and plasma homocysteine and methylmalonic acid). The study group was composed by 105 mothers with DS children (case group) and 185 mothers who had no children with DS (control group). The genotype distribution did not show significant statistical difference between case and control mothers (P = 0.24) however a protective effect between genotypes CC (P = 0.0002) and CT (P < 0.0001) and maternal risk for DS was observed. Furthermore, the SHMT C1420T polymorphism (rs1979277) does not affect the concentration of metabolites of folate pathway in our DS mothers. In conclusion, our data showed a protective role for the genotypes SHMT CC and CT on maternal risk for DS. The concentrations of metabolites of folate pathway did not differ significantly between the genotypes SHMT
Subject: Down, Síndrome de
Polimorfismo (Genética)
Country: Países Baixos
Editor: Springer
Rights: Fechado
Identifier DOI: 10.1007/s11033-011-1008-7
Date Issue: 2012
Appears in Collections:IQ - Artigos e Outros Documentos

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