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

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.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.

journal_name

Dis Markers

journal_title

Disease markers

authors

Zampieri BL,Biselli JM,Goloni-Bertollo EM,Vannucchi H,Carvalho VM,Cordeiro JA,Pavarino EC

doi

10.3233/DMA-2011-0869

subject

Has Abstract

pub_date

2012-01-01 00:00:00

pages

73-81

issue

2

eissn

0278-0240

issn

1875-8630

pii

F200R02650112314

journal_volume

32

pub_type

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