Abstract
At least three genetic loci can predispose towards AD. These are the APP gene, the ApoE gene and a locus on chromosome 14. Besides summarizing the role of APP mutations in disease pathogenesis, I shall present 4 series of analyses.
1) data indicating that ApoE genotype modulates onset age around 55 years in families with APP mutations with ApoE4 causing an earlier, and ApoE2 a later onset age relative to ApoE3.
2) data indicating that ApoE genotype does not modulate onset age in families with chromosome 14 locus encoded AD.
3) data confirming that ApoE4 shows a strong association with late onset AD.
4) genetic information confirming, but not further refining the position of the locus causing very early onset AD located between D14S52 and D14S55.
These data have been generated in collaborations with the Dementia and Prion groups at St. Mary's Hospital, London, the Alzheimer's Group at the Karolinska Institute, Sweden, the Department of Pathology, at the University of Helsinki, Finland and the Alzheimer's Genetic Group at the University of Antwerp, Belgium.
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Hardy, J. Genetics of Alzheimer's disease: APP, APOE, and the chromosome 14 locus. Neuropsychopharmacol 11, 260 (1994). https://doi.org/10.1038/sj.npp.1380119
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DOI: https://doi.org/10.1038/sj.npp.1380119