Association of apolipoprotein E polymorphism in late-onset Alzheimer's disease and vascular dementia in Brazilians

Brazilian Journal of Medical and Biological Research

D.r.s. Souza²  M.r. De Godoy¹  J. Hotta¹  E.h. Tajara¹  A.c. Brandão²  S. Pinheiro Júnior²  W.a. Tognola¹  J.e. Dos Santos¹ 

[1] ,Faculdade de Medicina de São José do Rio Preto Departamento de Biologia Molecular

关键词: Alzheimer's disease;    Vascular dementia;    Dementia;    Apolipoprotein E;    Aging;    Genetic polymorphisms;   

DOI  :  10.1590/S0100-879X2003000700013

来源: SciELO

【 摘 要 】

The genetic basis for dementias is complex. A common polymorphism in the apolipoprotein E (APOE) gene is considered to be the major risk factor in families with sporadic and late-onset Alzheimer's disease as well as in the general population. The distribution of alleles and genotypes of the APOE gene in late-onset Alzheimer's disease (N = 68), other late-life dementias (N = 39), and in cognitively normal controls (N = 58) was determined, as also was the risk for Alzheimer's disease associated with the epsilon4 allele. Peripheral blood samples were obtained from a total of 165 individuals living in Brazil aged 65-82 years. Genomic DNA was amplified by the polymerase chain reaction and the products were digested with HhaI restriction enzyme. APOE epsilon2 frequency was considerably lower in the Alzheimer's disease group (1%), and the epsilon3 allele and epsilon3/epsilon3 genotype frequencies were higher in the controls (84 and 72%, respectively) as were the epsilon4 allele and epsilon3/epsilon4 genotype frequencies in Alzheimer's disease (25 and 41%, respectively). The higher frequency of the epsilon4 allele in Alzheimer's disease confirmed its role as a risk factor, while epsilon2 provided a weak protection against development of the disease. However, in view of the unexpectedly low frequency of the epsilon4 allele, additional analyses in a more varied Brazilian sample are needed to clarify the real contribution of apolipoprotein E to the development of Alzheimer's disease in this population.

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