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Article type: Research Article
Authors: Payão, Spencer Luiz Marquesa; b | de Labio, Roger Williana | Gatti, Luciano Loboa; b | Rigolin, Valdeci O.S.c | Bertolucci, Paulo H.F.d | de A.C. Smith, Maríliab; *
Affiliations: [a] Disciplina de Biologia Molecular, Hemocentro FAMEMA, Faculdade de Medicina de Marília, Marília, São Paulo, Brasil | [b] Departamento de Morfologia, UNIFESP Escola Paulista de Medicina, São Paulo, Brasil | [c] Disciplina de Geriatria, FAMEMA, Faculdade de Medicina de Marília, Marília, São Paulo, Brasil | [d] Disciplina de Neurologia, UNIFESP Escola Paulista de Medicina, São Paulo, Brasil
Correspondence: [*] Corresponding author: Marília de Arruda Cardoso Smith, Ph.D, Disciplina de Genétia, Departamento de Morfologia, Universidade Federal de São Paulo, Escola Paulista de Medicina, Rua Botucatu 740, 04023-900, São Paulo-SP-Brazil. Tel./Fax: +55 11 5570 8378; E-mail: macsmith.morf@epm.br.
Abstract: Alzheimer 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 remains to be clarified. Werner syndrome (WS) is a rare autosomal recessive disorder characterized as a segmental progeroid syndrome. The gene (WRN) was recently identified. Its product acts as a DNA helicase and exonuclease. This study investigates the association of AD with the WRN 1367 polymorphisms in samples of 67 DA patients, 56 elderly healthy and 66 young healthy controls. DNA was isolated from blood cells, amplified by PCR and digested with PmaCI. We observed that the genotype distributions of WRN 1367 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: Alzheimer's disease, Werner syndrome, WRN 1367 polymorphisms, risk factor, association study
DOI: 10.3233/JAD-2004-6603
Journal: Journal of Alzheimer's Disease, vol. 6, no. 6, pp. 591-594, 2004
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