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

Content Provider	Springer Nature Link
Author	Marucci, Gustavo Henrique Zampieri, Bruna Lancia Biselli, Joice Matos Valentin, Sendi Bertollo, Eny Maria Goloni Eberlin, Marcos gueira Haddad, Renato Riccio, Maria Francesca Vannucchi, Hélio Carvalho, Valdemir Melechco Pavari, Érika Cristina
Copyright Year	2011
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.
Starting Page	2561
Ending Page	2566
Page Count	6
File Format	PDF
ISSN	03014851
Journal	Molecular Biology Reports
Volume Number	39
Issue Number	3
e-ISSN	15734978
Language	English
Publisher	Springer Netherlands
Publisher Date	2011-06-18
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Down syndrome Serine hydroxymethyltransferase Genetic polymorphism Folate metabolism Animal Biochemistry Animal Anatomy / Morphology / Histology
Content Type	Text
Resource Type	Article
Subject	Genetics Medicine Molecular Biology

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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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