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

Nutrients

Fabio Coppedè¹  Valentina Lorenzoni² 

[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; E-Mail:;Institute of Management, Sant’Anna School of Advanced Studies, Pisa 56126, Italy; E-Mail:

关键词: reduced folate carrier;    SLC19A1;    RFC-1;    RFC1 A80G polymorphism;    RFC1 80A>G polymorphism;    Down Syndrome;    maternal risk;    meta-analysis;    folate;    gene polymorphisms;   

DOI  :  10.3390/nu5072551

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2013 by the authors; licensee MDPI, Basel, Switzerland.