Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/2592
Title: Frequency of Werner helicase 1367 polymorphism and age-related morbidity in an elderly Brazilian population
Authors: Smith, Marilia de Arruda Cardoso [UNIFESP]
Silva, M.d.a. [UNIFESP]
Araujo, Lara Miguel Quirino [UNIFESP]
Ramos, Luiz Roberto [UNIFESP]
Lábio, Roger Willian de
Burbano, Rommel Rodríguez [UNIFESP]
Peres, Clovis de Araujo [UNIFESP]
Andreoli, Sergio Baxter [UNIFESP]
Payão, Spencer Luiz Marques [UNIFESP]
Cendoroglo, Maysa Seabra [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
Faculdade de Medicina de Marília Hemocentro Disciplina de Genética e Biologia Molecular
Keywords: WRN: codon 1367 polymorphism
Age-related morbidities
Elderly cohort study
Issue Date: 1-Jul-2005
Publisher: Associação Brasileira de Divulgação Científica
Citation: Brazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 38, n. 7, p. 1053-1059, 2005.
Abstract: Werner syndrome (WS) is a premature aging disease caused by a mutation in the WRN gene. The gene was identified in 1996 and its product acts as a DNA helicase and exonuclease. Some specific WRN polymorphic variants were associated with increased risk for cardiovascular diseases. The identification of genetic polymorphisms as risk factors for complex diseases affecting older people can improve their prevention, diagnosis and prognosis. We investigated WRN codon 1367 polymorphism in 383 residents in a district of the city of São Paulo, who were enrolled in an Elderly Brazilian Longitudinal Study. Their mean age was 79.70 ± 5.32 years, ranging from 67 to 97. This population was composed of 262 females (68.4%) and 121 males (31.6%) of European (89.2%), Japanese (3.3%), Middle Eastern (1.81%), and mixed and/or other origins (5.7%). There are no studies concerning this polymorphism in Brazilian population. These subjects were evaluated clinically every two years. The major health problems and morbidities affecting this cohort were cardiovascular diseases (21.7%), hypertension (83.7%), diabetes (63.3%), obesity (41.23%), dementia (8.0%), depression (20.0%), and neoplasia (10.8%). Their prevalence is similar to some urban elderly Brazilian samples. DNA was isolated from blood cells, amplified by PCR and digested with PmaCI. Allele frequencies were 0.788 for the cysteine and 0.211 for the arginine. Genotype distributions were within that expected for the Hardy-Weinberg equilibrium. Female gender was associated with hypertension and obesity. Logistic regression analysis did not detect significant association between the polymorphism and morbidity. These findings confirm those from Europeans and differ from Japanese population.
URI: http://repositorio.unifesp.br/handle/11600/2592
ISSN: 0100-879X
Other Identifiers: http://dx.doi.org/10.1590/S0100-879X2005000700008
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