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Article

Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects.

American journal of medical genetics. Part A - 1 Oct 2009

Brandalize Ana Paula Carneiro, Bandinelli Eliane, dos Santos Pollyanna Almeida, Roisenberg Israel, Schüler-Faccini Lavínia

Abstract excerpt

Abnormal folate/homocysteine metabolism due to polymorphisms in genes involved in this pathway has been implicated as an etiologic factor in Down syndrome (DS). This case-control study aimed to evaluate the effect of maternal C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) as risk factors for the development of DS and congenital heart defects (CHD). The distribution of these...

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Source

Identifiers

PMID: 19725133
DOI: 10.1002/ajmg.a.32989

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects.PMID 19725133Read ↗

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