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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.55 no.1 São Paulo  1997

http://dx.doi.org/10.1590/S0004-282X1997000100001 

Apolipoprotein E4 and Alzheimer's disease in São Paulo - Brazil

 

Apolipoproteina E 4 e doença de Alzheimer em São Paulo - Brasil

 

 

Osvaldo P. AlmeidaI; Carlos M. ShimokomakiII

IDepartamento de Psiquiatria da Faculdade de Medicina da Universidade de São Paulo (USP)
IILaboratório de Genética do Instituto de Biologia da USP

 

 


ABSTRACT

Several recently published studies showed the existence of an association between the allele ε4 of the apolipoprotein E and Alzheimer's disease (AD) in developed countries. We examined this association in 55 patients with possible or probable AD and 56 elderly controls referred to outpatient clinics at the "Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo" and "Centro de Saúde Escola da Faculdade de Saúde Pública da Universidade de São Paulo". The allele ε4 was significantly more frequent among patients than controls (20.9% vs 8.9%, p=0.038). Thirty-six percent of the cases presented with at least one allele ε4 compared with only 17.9% of the controls (p=0.027). The presence of at least one ε4 allele increased by 2.63 times the risk of subjects being diagnosed as suffering from AD. All three ε4ε4 patients were male and had a pre-senile onset of the disease. There was no significant difference between senile and pre-senile cases (41.9% vs 29.2%, p=0.326) nor between men and women (36.0% vs 36.7%, p=0.959) regarding their risk of being ε4. The age at onset of symptoms did not differ among the different genotype groups, although ε4ε4 cases showed a consistent trend for earlier onset. When only patients with the diagnosis of "probable AD" were included in the analysis (n=43), we observed that 22.1% of the alleles were e4, a rate that was significantly higher than the 8.9% of controls (p=0.024). This study supports the association between the presence of the ε4 allele and AD and extend this finding to Brazilian patients. Nonetheless, the presence of this allele is not necessary nor sufficient for the development of the disease and it is possible that its contribution to the pathogenesis of the disorder depends on the subject's ethnic group.

Key words: dementia, Alzheimer's disease, risk factors, apolipoprotein E, ApoE4.


RESUMO

Vários estudos publicados durante os últimos dois anos demonstraram a existência de uma forte associação entre o alelo ε4 da apolipoproteina E e a doença de Alzheimer (AD) em países do hemisfério norte. Este estudo investigou a associação entre a presença do alelo ε4 da apolipoproteina E e a doença de Alzheimer em amostra de pacientes brasileiros atendidos em um serviço público de saúde. Foram investigados 55 pacientes com diagnóstico de AD possível ou provável e 56 controles idosos atendidos em serviços ambulatoriais do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo e do Centro de Saúde Escola da Faculdade de Saúde Pública da Universidade de São Paulo. A determinação do tipo de alelo foi feita através de tipagem genética. Do total de alelos investigados (n=222) observou-se um excesso de ε4 entre os pacientes (20,9% vs 8,9%, p=0,038), com 36,4% deles exibindo ao menos 1 alelo ε4 (vs 17,9% dos controles, p=0,027). O risco de indivíduos com ao menos 1 alelo ε4 serem diagnosticados como sofrendo de AD foi 2,63 vezes maior que para aqueles sem este alelo. Três pacientes apresentaram o genótipo ε4ε4, sendo todos homens com início pré-senil da doença. Não se observou diferença na freqüência de ao menos 1 alelo ε4 entre pacientes com demência senil e pré-senil (41,9% vs 29,2%, p=0,326) ou entre homens e mulheres (36,0% vs 36,7%, p=0,959). Não havia diferença significativa quanto à idade de início dos sintomas entre grupos de pacientes com diferentes genótipos, embora indivíduos com genótipo ε4ε4 revelassem tendência a desenvolver a doença mais precocemente. Quando apenas pacientes com diagnóstico de AD provável foram incluídos na análise (n=43), verificou-se que 22,1% dos alelos eram ε4, uma taxa significativamente maior que os 8,9% dos controles (p=0,024). Os resultados deste estudo confirmam a associação entre ε4 e AD e estendem este achado para uma amostra de pacientes brasileiros. Entretanto, a presença desse alelo não é necessária nem suficiente para o desenvolvimento da doença e é possível que sua contribuição varie de acordo com o grupamento étnico ao qual pertence o indivíduo.

Palavras-chave: demência, doença de Alzheimer, fatores de risco, apolipoproteína E, ApoE4.


 

 

Full text available only in PDF format.

Texto completo disponível apenas em PDF.

 

 

Acknowledgements

This study was supported by a grant from FAPESP (94/2158-8) and CNPq. OPA is supported by CNPq. We are grateful to Luciana Vasquez, Prof. Dr. Maria Rita Passos Bueno and Prof. Dr. Mayana Zatz for helping with the molecular analysis of the blood samples; Prof. Dr. Ricardo Nitrini, the staff at the Neurology Outpatient Clinic and at PROTER for helping with the recruitment of patients, and the staff at the "Centro de Saúde Escola da FSP-USP" for helping with the selection of controls.

 

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Aceite: 15-outubro-1996

 

 

Dr. Osvaldo P. Almeida - Unidade de Idosos (UNID), Departamento de Saúde Mental, Faculdade de Ciências Médicas da Santa Casa de São Paulo - Rua Dr. Cesário Motta Jr 112 - 01277-000 São Paulo SP - Brasil. E-mail: Oswalm@ibm.net

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