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BioMed Research International
Volume 2014, Article ID 608104, 6 pages
Research Article

A Pilot Study Evaluating the Contribution of SLC19A1 (RFC-1) 80G>A Polymorphism to Alzheimer’s Disease in Italian Caucasians

1Division of Medical Genetics, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Medical School, Via Roma 56, 56126 Pisa, Italy
2Unit of Neurology, Department of Neuroscience, Pisa University Hospital, Via Roma 67, 56126 Pisa, Italy
3Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
4Unit of Neurorehabilitation, Department of Neuroscience, Pisa University Hospital, Via Paradisa 2, 56124 Pisa, Italy
5Department of Clinical and Experimental Medicine, University of Pisa, Neurological Clinic, Via Roma 67, 56126 Pisa, Italy

Received 27 February 2014; Revised 16 May 2014; Accepted 26 May 2014; Published 5 June 2014

Academic Editor: Paolo Villari

Copyright © 2014 Fabio Coppedè et al. 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.


Alzheimer’s disease (AD) is the most common neurodegenerative disorder and the primary form of dementia in the elderly. Polymorphisms of genes involved in folate metabolism have been frequently suggested as risk factors for sporadic AD. A common c.80G>A polymorphism (rs1051266) in the gene coding for the reduced folate carrier (SLC19A1 gene, commonly known as RFC-1 gene) was investigated as AD risk factor in Asian populations, yielding conflicting results. We screened a Caucasian population of Italian origin composed of 192 sporadic AD patients and 186 healthy matched controls, for the presence of the RFC-1 c.80G>A polymorphism, and searched for correlation with circulating levels of folate, homocysteine, and vitamin B12. No difference in the distribution of allele and genotype frequencies was observed between AD patients and controls. No correlation was observed among the genotypes generated by the RFC-1 c.80G>A polymorphism and circulating levels of folate, homocysteine, and vitamin B12 either in the whole cohort of subjects or after stratification into clinical subtypes. Present results do not support a role for the RFC-1 c.80G>A polymorphism as independent risk factor for sporadic AD in Italian Caucasians.