Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women.

doi:10.1002/ajmg.a.31217

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Article

Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women.

American journal of medical genetics. Part A - 15 May 2006

Coppedè Fabio, Marini Giulia, Bargagna Stefania, Stuppia Liborio, Minichilli Fabrizio, Fontana Ilaria, Colognato Renato, Astrea Guia, Palka Giandomenico, Migliore Lucia

Abstract excerpt

Maternal impairments in folate metabolism and elevated homocysteinemia are known risk factors for having a child with Down syndrome (DS) at a young age. The 80G>A polymorphism of the reduced folate carrier gene (RFC-1) has been recently demonstrated to affect plasma folate and homocysteine levels, alone or in combination with the 677C>T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene. We...

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PMID: 16596679
DOI: 10.1002/ajmg.a.31217

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MTHFR

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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.