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The Reduced Folate Carrier (RFC-1) 80A>G Polymorphism and Maternal Risk of Having a Child with Down Syndrome: A Meta-Analysis
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
Institute of Management, Sant'Anna School of Advanced Studies, Pisa 56126, Italy
* Author to whom correspondence should be addressed.
Received: 18 March 2013; in revised form: 20 June 2013 / Accepted: 21 June 2013 / Published: 5 July 2013
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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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.
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.
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.