title: Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome.
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.
authors.affiliation: Departamento de Biologia Molecular, Faculdade de Medicina de São José do Rio Preto, Unidade de Pesquisa em Genética e Biologia Molecular, Bloco U6, Avenida Brigadeiro Faria Lima, 5416 Vila São Pedro, CEP: 15090-000 São José do Rio Preto, SP, Brazil.
authors.forename: Gustavo Henrique
authors.initials: GH
authors.lastname: Marucci
authors.forename: Bruna Lancia
authors.initials: BL
authors.lastname: Zampieri
authors.forename: Joice Matos
authors.initials: JM
authors.lastname: Biselli
authors.forename: Sendi
authors.initials: S
authors.lastname: Valentin
authors.forename: Eny Maria Goloni
authors.initials: EM
authors.lastname: Bertollo
authors.forename: Marcos Nogueira
authors.initials: MN
authors.lastname: Eberlin
authors.forename: Renato
authors.initials: R
authors.lastname: Haddad
authors.forename: Maria Francesca
authors.initials: MF
authors.lastname: Riccio
authors.forename: Hélio
authors.initials: H
authors.lastname: Vannucchi
authors.forename: Valdemir Melechco
authors.initials: VM
authors.lastname: Carvalho
authors.forename: Erika Cristina
authors.initials: EC
authors.lastname: Pavarino
mesh_terms: D017931:DNA Primers / Q000235:genetics; D004314:Down Syndrome / Q000201:enzymology* / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005492:Folic Acid / Q000097:blood; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D012696:Glycine Hydroxymethyltransferase / Q000235:genetics*; D006710:Homocysteine / Q000097:blood; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D016015:Logistic Models; D008764:Methylmalonic Acid / Q000097:blood; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors
chemical_list: D017931:DNA Primers; D006710:Homocysteine; D008764:Methylmalonic Acid; D005492:Folic Acid; D012696:Glycine Hydroxymethyltransferase