Original Investigation

Human Genetics

, Volume 95, Issue 1, pp 39-42

First online:

Apolipoprotein E (apoE) polymorphism and its influence on ApoE concentrations in the cerebrospinal fluid in Finnish patients with Alzheimer's disease

  • Terho LehtimäkiAffiliated withDepartment of Biomedical Sciences, University of TampereDepartment of Clinical Chemistry, Tampere University Hospital
  • , Tuula PirttiläAffiliated withInstitute for Basic Research in Developmental DisabilitiesDepartment of Neurology, Tampere University Hospital
  • , Pankaj D. MehtaAffiliated withInstitute for Basic Research in Developmental Disabilities
  • , Henryk M. WisniewskiAffiliated withInstitute for Basic Research in Developmental Disabilities
  • , Harry FreyAffiliated withDepartment of Neurology, Tampere University Hospital
  • , Tapio NikkariAffiliated withDepartment of Biomedical Sciences, University of Tampere

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Abstract

The apoE phenotype of 83 patients with probable Alzheimer's disease (AD) and of 164 non-demented controls was determined by isoelectric focusing and Western blotting. The proportion of the e4 allele was 0.548 in AD and 0.202 in controls (P<0.0001). The effect was seen in both early-onset and late-onset AD patients. The risk of AD in ɛ4 homozygotes was 18-fold greater than in individuals without the ɛ4 allele. ApoE concentrations were measured in serum and cerebrospinal fluid (CSF) from a subgroup of patients with AD (n=72) and controls (n=84) by a sandwich enzyme-linked immunosorbent assay. Although serum apoE concentrations were lower in individuals with the ɛ4 allele than in those without the e4 allele, CSF apoE concentrations did not vary in different phenotype groups. However, CSF apoE levels were lower in AD patients than in controls. We conclude that the inheritance of the ɛ4 allele of apoE is a risk factor for AD in the Finnish population.