title: A pilot study evaluating the contribution of SLC19A1 (RFC-1) 80G>a polymorphism to Alzheimer's disease in Italian Caucasians.
abstract: 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.
authors.affiliation: Division 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.
authors.forename: Fabio
authors.initials: F
authors.lastname: Coppedè
authors.affiliation: Division 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.
authors.forename: Pierpaola
authors.initials: P
authors.lastname: Tannorella
authors.affiliation: Unit of Neurology, Department of Neuroscience, Pisa University Hospital, Via Roma 67, 56126 Pisa, Italy.
authors.forename: Gloria
authors.initials: G
authors.lastname: Tognoni
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Viale Pieraccini 6, 50139 Florence, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Bagnoli
authors.affiliation: Unit of Neurorehabilitation, Department of Neuroscience, Pisa University Hospital, Via Paradisa 2, 56124 Pisa, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Bongioanni
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Viale Pieraccini 6, 50139 Florence, Italy.
authors.forename: Benedetta
authors.initials: B
authors.lastname: Nacmias
authors.affiliation: Unit of Neurology, Department of Neuroscience, Pisa University Hospital, Via Roma 67, 56126 Pisa, Italy ; Department of Clinical and Experimental Medicine, University of Pisa, Neurological Clinic, Via Roma 67, 56126 Pisa, Italy.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Viale Pieraccini 6, 50139 Florence, Italy.
authors.forename: Sandro
authors.initials: S
authors.lastname: Sorbi
authors.affiliation: Unit of Neurology, Department of Neuroscience, Pisa University Hospital, Via Roma 67, 56126 Pisa, Italy ; Department of Clinical and Experimental Medicine, University of Pisa, Neurological Clinic, Via Roma 67, 56126 Pisa, Italy.
authors.forename: Ubaldo
authors.initials: U
authors.lastname: Bonuccelli
authors.affiliation: Division 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.
authors.forename: Lucia
authors.initials: L
authors.lastname: Migliore
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D058978:Reduced Folate Carrier Protein / Q000235:genetics*; D012307:Risk Factors
chemical_list: D058978:Reduced Folate Carrier Protein; C548699:SLC19A1 protein, human