Maternal Risk for Down Syndrome Is Modulated by Genes Involved in Folate Metabolism

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Zampieri, Bruna Lancia, Biselli, Joice Matos, Goloni-Bertollo, Eny Maria, Vannucchi, Hélio, Carvalho, Valdemir Melechco, Cordeiro, José Antônio, Pavarino, Érika Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2012
Materias:
Other
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826801/
https://www.ncbi.nlm.nih.gov/pubmed/22377700
http://dx.doi.org/10.3233/DMA-2011-0869
Descripción
Sumario: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.677 C>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.

Ejemplares similares