A case—control study of apolipoprotein E genotypes in Alzheimer's disease associated with Down's syndrome

Authors

  • Dr W. A. van Gool MD,

    Corresponding author
    1. Academic Medical Center, University of Amsterdam, Department of Neurology, Amsterdam
    • Department of Neurology, Academic Medical Center, University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, The Netherlands
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  • H. M. Evenhuis MD,

    1. Hooge Burch, Zwammerdam
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  • C. M. van Duijn PhD,

    1. Erasmus University, Department of Epidemiology and Biostatistics, Rotterdam, The Netherlands
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  • Behalf of the Dutch Study Group on Down's Syndrome and Ageing

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    • The following individuals, members of the Dutch Study Group on Down's syndrome and Ageing, and institutions contributed to this study by referring patients: Dr A. M. W. Coppus (Marchia Roepaan, Ottersum), Dr K. W. Dollekens (De Donksbergen, Duizel), Dr H. I. de Jonge (Eckartdal, Eindhoven), Dr C. van Schie and Dr H. Steegemans (both, Severinusstichting, Eindhoven), Dr H. van der Stal (Vijverveugd, Middelburg), Dr F. E. Visser ('s-Heeren Loo-Lozenoord, Ermelo), all in The Netherlands, and Dr P. Brucker and Dr P. B. Berry (Neuerkerode, Sickte) in Germany. Technical assistance and advice was provided by Dr P.A. Bolhuis (AMC, Amsterdam), Prof P. Eikelenboom (PCA/Valeriuskliniek, Amsterdam), and G. W. Hensels (AMC, Amsterdam).


Abstract

The prevalence of clinical signs and neuropathological findings of Alzheimer's disease (AD) is high in Down's syndrome (DS). In the general population, the apolipoprotein E (ApoE) ϵ4 isoform is an important risk Marchker for AD. We studied the allelic frequencies of ApoE in 26 DS cases fulfilling clinical diagnostic criteria for AD and in 26 DS controls matched for age, sex, and premorbid level of mental retardation. A meta-analysis of data available in the literature was used for comparison with allele frequencies in other AD and control populations. ApoE type 2, 3, or 4 allele freqeuencies were not significantly different in AD–DS cases and DS controls. The ApoE ϵ4 frequency in DS cases with AD (0.14; CI, 0.06–0.26) was significantly lower than in any other AD population studied so far and it is within the range of nondemented controls from the general population. These findings suggest that ApoE ϵ4 does not significantly affect the pathogenesis of AD in DS patients.

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