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

Received: 18 March 2013; in revised form: 20 June 2013 / Accepted: 21 June 2013 / Published: 5 July 2013
(This article belongs to the Special Issue Folate Metabolism and Nutrition)
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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
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MDPI and ACS Style

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.

AMA Style

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(7):2551-2563.

Chicago/Turabian Style

Coppedè, Fabio; Lorenzoni, Valentina; Migliore, Lucia. 2013. "The Reduced Folate Carrier (RFC-1) 80A>G Polymorphism and Maternal Risk of Having a Child with Down Syndrome: A Meta-Analysis." Nutrients 5, no. 7: 2551-2563.

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