A Pilot Study Evaluating the Contribution ofSLC19A1(RFC-1) 80G>A Polymorphism to Alzheimer’s Disease in Italian Caucasians | Zendy

Fabio Coppedè | Zendy; Pierpaola Tannorella | Zendy; Gloria Togi | Zendy; Silvia Bagnoli | Zendy; Paolo Bongioanni | Zendy; Benedetta Nacmias | Zendy; Gabriele Siciliano | Zendy; Sandro Sorbi | Zendy; Ubaldo Bonuccelli | Zendy; Lucia Migliore | Zendy

Open Access

A Pilot Study Evaluating the Contribution ofSLC19A1(RFC-1) 80G>A Polymorphism to Alzheimer’s Disease in Italian Caucasians

Author(s) -

Fabio Coppedè,

Pierpaola Tannorella,

Gloria Togi,

Silvia Bagnoli,

Paolo Bongioanni,

Benedetta Nacmias,

Gabriele Siciliano,

Sandro Sorbi,

Ubaldo Bonuccelli,

Lucia Migliore

Publication year - 2014

Publication title -

biomed research international

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.772

H-Index - 126

eISSN - 2314-6141

pISSN - 2314-6133

DOI - 10.1155/2014/608104

Subject(s) - homocysteine , genotype , medicine , biology , allele , single nucleotide polymorphism , polymorphism (computer science) , dementia , genetics , vitamin b12 , gene polymorphism , risk factor , disease , gene

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.

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