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Article

MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2011

Božović Ivana Babić, Vraneković Jadranka, Cizmarević Nada Starčević, Mahulja-Stamenković Vesna, Prpić Igor, Brajenović-Milić Bojana

Abstract excerpt

BACKGROUND: Congenital heart defects (CHD) are present in most, but not all, cases of Down syndrome (DS). The presence of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms has been reported as a risk factor for CHD in DS. The aims of the present study were to assess (i) the frequency of MTHFR C677T and A1298C polymorphisms in DS individuals in the Croatian population; (ii) the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21159028
DOI: 10.1111/j.1442-200X.2010.03310.x

Genes

MTHFR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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