Maternal risk for Down syndrome is modulated by genes involved in folate metabolism

Author(s)

Zampieri, Bruna Lancia ^[1] ; Biselli, Joice Matos ^[1] ; Goloni-Bertollo, Eny Maria ^[1] ; Vannucchi, Helio ^[2] ; Carvalho, Valdemir Melechco ^[3] ; Cordeiro, Jose Antonio ^[4] ; Pavarino, Erika Cristina ^[1]

Affiliation

^[1] Fac Med Sao Jose Rio Preto FAMERP, Unidade Pesquisa Genet & Biol Mol UPGEM, Sao Paulo - Brazil

^[2] Fac Med Ribeirao USP, Sao Paulo - Brazil

^[3] Fleury, Ctr Med Diagnost, Sao Paulo - Brazil

^[4] Fac Med Sao Jose Rio Preto FAMERP, Dept Epidemiol & Saude Colet, Sao Paulo - Brazil

• Document type: Journal article
• Source: DISEASE MARKERS; v. 32, n. 2, p. 73-81, 2012.
• Web of Science Citations: 28

Abstract

Studies have shown that the maternal risk for Down syndrome (DS) may be modulated by alterations in folate metabolism. The aim of this study was to evaluate the influence of 12 genetic polymorphisms involved in folate metabolism on maternal risk for DS. In addition, we evaluated the impact of these polymorphisms on serum folate and plasma methylmalonic acid (MMA, an indicator of vitamin B-12 status) concentrations. The polymorphisms transcobalamin II (TCN2) c.776C>G, betaine-homocysteine S-methyltransferase (BHMT) c.742A>G, methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR) c.677C>T and the MTHFR 677C-1298A-1317T haplotype modulate DS risk. The polymorphisms MTHFR c.677C>T and solute carrier family 19 (folate transporter), member 1 (SLC19A1) c.80 A>G modulate folate concentrations, whereas the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) c.66A>G polymorphism affects the MMA concentration. These results are consistent with the modulation of the maternal risk for DS by these polymorphisms. (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