Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome

Author(s):Show less -

Marucci, Gustavo Henrique ^[1] ; Zampieri, Bruna Lancia ^[1] ; Biselli, Joice Matos ^[1] ; Valentin, Sendi ^[1] ; Goloni Bertollo, Eny Maria ^[1] ; Eberlin, Marcos Nogueira ^[2] ; Haddad, Renato ^[2] ; Riccio, Maria Francesca ^[2] ; Vannucchi, Helio ^[3] ; Carvalho, Valdemir Melechco ^[4] ; Pavarino, Erika Cristina ^[1]

Affiliation

^[1] Fac Med Sao Jose do Rio Preto, UPGEM, Dept Biol Mol, BR-15090000 Sao Jose Do Rio Preto, SP - Brazil

^[2] Univ Estadual Campinas, Inst Quim, Lab ThoMSon Espectrometria Massas, BR-13083970 Campinas, SP - Brazil

^[3] USP, Fac Med Ribeirao Preto, Dept Clin Med, Lab Nutr, BR-14049900 Ribeirao Preto, SP - Brazil

^[4] Fleury Ctr Med Diagnost, BR-04025002 Sao Paulo - Brazil

• Document type: Journal article
• Source: MOLECULAR BIOLOGY REPORTS; v. 39, n. 3, p. 2561-2566, MAR 2012.
• Web of Science Citations: 9

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. (AU)

• FAPESP's process: 08/10932-0 - Genetic polymorphisms on folate metabolic pathway and susceptibility to chromosome 21 nondisjunction.
• Grantee: Erika Cristina Pavarino
• Support Opportunities: Regular Research Grants