Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome |
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Authors: | Gustavo Henrique Marucci Bruna Lancia Zampieri Joice Matos Biselli Sendi Valentin Eny Maria Goloni Bertollo Marcos Nogueira Eberlin Renato Haddad Maria Francesca Riccio Hélio Vannucchi Valdemir Melechco Carvalho érika Cristina Pavarino |
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Institution: | 1. Departamento de Biologia Molecular, Faculdade de Medicina de S?o Jos?? do Rio Preto, Unidade de Pesquisa em Gen??tica e Biologia Molecular, (UPGEM), Bloco U6, Avenida Brigadeiro Faria Lima, 5416 Vila S?o Pedro;CEP: 15090-000, S?o Jos?? do Rio Preto, SP, Brazil 2. Laborat??rio ThoMSon de Espectrometria de Massas, Instituto de Qu??mica, Universidade Estadual de Campinas, Cidade Universit??ria Zeferino Vaz, CEP: 13083-970, Campinas, SP, Brazil 3. Laborat??rio de Nutri??o, Departamento de Cl??nica M??dica, Faculdade de Medicina de Ribeir?o Preto, USP, Avenida Bandeirantes, 3900 Monte Alegre CEP, Ribeir?o Preto, SP, 14049-900, Brazil 4. Fleury - Centro de Medicina Diagn??stica, Rua dos Otonis, 880, apto. 133 Vila Clementino, CEP: 04025-002, S?o Paulo, SP, Brazil
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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. |
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