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Nutrients 2013, 5(7), 2551-2563; doi:10.3390/nu5072551
Article

The Reduced Folate Carrier (RFC-1) 80A>G Polymorphism and Maternal Risk of Having a Child with Down Syndrome: A Meta-Analysis

1,* , 2
 and
1
1 Department of Translational Research and New Technologies in Medicine and Surgery, Division of Medical Genetics, University of Pisa, Via S. Giuseppe 22, Pisa 56126, Italy 2 Institute of Management, Sant'Anna School of Advanced Studies, Pisa 56126, Italy
* Author to whom correspondence should be addressed.
Received: 18 March 2013 / Revised: 20 June 2013 / Accepted: 21 June 2013 / Published: 5 July 2013
(This article belongs to the Special Issue Folate Metabolism and Nutrition)
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Abstract

A common polymorphism (c.80A>G) in the gene coding for the reduced folate carrier (SLC19A1, commonly known as RFC-1) has been associated with maternal risk of the birth of a child with Down Syndrome (DS), but results are controversial. We searched major online databases to identify available case-control studies, and performed a meta-analysis to summarize the data concerning this association. Nine independent case-control studies were identified for a total of 930 DS mothers (MDS) and 1240 control mothers. Odds ratios (OR) and 95% confidence intervals (CI) were calculated using both fixed and random effects models. An increase in the risk of having a birth with DS was observed for carriers of the homozygous GG genotype (OR 1.27, 95% CI 1.04–1.57; p = 0.02, fixed effects model), even after removal from the meta-analysis of published data with deviations from Hardy-Weinberg equilibrium (HWE) in controls (OR 1.26, 95% CI 1.02–1.55; p = 0.03, fixed effects model). Moreover, the pooled OR under the fixed effects model showed an increase in the maternal risk for the G allele (OR 1.14, 95% CI 1.01–1.30; p = 0.03). Present results suggest that the maternal RFC-1 80A>G polymorphism might be associated with an increased risk of having a birth with DS, particularly among carriers of the GG genotype.
Keywords: reduced folate carrier; SLC19A1; RFC-1; RFC1 A80G polymorphism; RFC1 80A>G polymorphism; Down Syndrome; maternal risk; meta-analysis; folate; gene polymorphisms reduced folate carrier; SLC19A1; RFC-1; RFC1 A80G polymorphism; RFC1 80A>; G polymorphism; Down Syndrome; maternal risk; meta-analysis; folate; gene polymorphisms
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).
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Coppedè, F.; Lorenzoni, V.; Migliore, L. The Reduced Folate Carrier (RFC-1) 80A>G Polymorphism and Maternal Risk of Having a Child with Down Syndrome: A Meta-Analysis. Nutrients 2013, 5, 2551-2563.

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