Apolipoprotein A-V gene polymorphism –1131T>C and Alzheimer's disease

Article type: Research Article

Authors: Barbosa, Fábio Augusto Freiria^{a; b} | de Labio, Roger Willian^c | de Oliveira S. Rigolin, Valdeci^e | Minett, Thais^f | Bertolucci, Paulo Henrique Ferreira^f | de Arruda Cardoso Smith, Marília^d | Payão, Spencer Luiz Marques^{a; b; c; d; *}

Affiliations: [a] Mestrado em Biologia Oral, USC Universidade do Sagrado Coração, Bauru, São Paulo, Brasil | [b] Faculdades de Ciências da Saúde e Medicina e Enfermagem, UNIMAR Universidade de Marília, Marília, São Paulo, Brasil | [c] Disciplina Biologia Molecular, Hemocentro FAMEMA, Faculdade de Medicina de Marília, Marília, São Paulo, Brasil | [d] Departamento de Morfologia, UNIFESP/EPM Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo, Brasil | [e] Disciplina de Geriatria, FAMEMA, Faculdade de Medicina de Marília, Marília, São Paulo, Brasil | [f] Disciplina de Neurologia, UNIFESP/EPM, São Paulo, Brasil

Correspondence: [*] Corresponding author: Spencer Luiz Marques Payão, Ph.D, Laboratório de Genética, Hemocentro, Famema, Rua Lourival Freire, 240, Bairro Fragata, CEP 17519-050, Marília, São Paulo, Brazil. Tel.: +55 14 34021856; Fax: +55 14 34330148; E-mail: [email protected].

Abstract: Alzheimer's disease (AD) is the most common neurodegenerative disorder in the elderly and is also considered a progeroid genetic syndrome. The etiology of AD is complex and the mechanisms underlying its pathophysiology remain to be clarified. It has been suggested that a high serum cholesterol level is a risk factor for (AD), and that some polymorphisms of genes encoding proteins regulating cholesterol metabolism are associated with AD development. APOA5 is a recently discovered apolipoprotein involved primarily with triglyceride (TG) metabolism disorder. This study investigates the association of AD with the APOA5 gene –1131T>C polymorphisms in samples of 106 patients with Alzheimer's disease (AD), 76 elderly healthy controls and 93 young healthy controls. DNA samples were isolated from blood cells, amplified by PCR and digested with Tru1l. We observed that the genotype distributions of APOA5 variants were within Hardy-Weinberg equilibrium in all subject samples. Furthermore, chi-square test comparison for genotype distributions and allele frequencies did not reveal any significant difference among the three groups of subjects P>0.05). These results support the idea that these variants are not involved as a risk factor for developing AD.

Keywords: Ageing, Alzheimer's disease, apolipoprotein A5, –1131T→C polymorphisms, risk factor

DOI: 10.3233/JAD-2006-10404

Journal: Journal of Alzheimer's Disease, vol. 10, no. 4, pp. 365-369, 2006