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Article

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

Disease markers - 1 Jan 2012

Zampieri Bruna Lancia, Biselli Joice Matos, Goloni-Bertollo Eny Maria, Vannucchi Hélio, Carvalho Valdemir Melechco, Cordeiro José Antônio, Pavarino Erika Cristina

Abstract excerpt

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<formula>_{12}</formula>...

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Source

Open in PubMed Open full text

Identifiers

PMID: 22377700
DOI: 10.3233/DMA-2011-0869
PMCID: PMC3826801

Genes

MTHFR
BHMT
MTRR
TCN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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