PMC:3826801 JSONTXT

{"target":"http://pubannotation.org/docs/sourcedb/PMC/sourceid/3826801","sourcedb":"PMC","sourceid":"3826801","source_url":"https://www.ncbi.nlm.nih.gov/pmc/3826801","text":"Maternal Risk for Down Syndrome Is Modulated by Genes Involved in Folate Metabolism\n\nAbstract\nStudies 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 B12 status) concentrations. The polymorphisms transcobalamin II (TCN2) c.776C\u003eG, betaine-homocysteine S-methyltransferase (BHMT) c.742A\u003eG, methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR) c.677 C\u003eT and the MTHFR 677C-1298A-1317T haplotype modulate DS risk. The polymorphisms MTHFR c.677C\u003eT and solute carrier family 19 (folate transporter), member 1 (SLC19A1) c.80 A\u003eG modulate folate concentrations, whereas the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) c.66A\u003eG polymorphism affects the MMA concentration. These results are consistent with the modulation of the maternal risk for DS by these polymorphisms.\n\n","tracks":[]}