Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease.


Journal Article

Apolipoprotein E, type epsilon 4 allele (APOE epsilon 4), is associated with late-onset familial Alzheimer's disease (AD). There is high avidity and specific binding of amyloid beta-peptide with the protein ApoE. To test the hypothesis that late-onset familial AD may represent the clustering of sporadic AD in families large enough to be studied, we extended the analyses of APOE alleles to several series of sporadic AD patients. APOE epsilon 4 is significantly associated with a series of probable sporadic AD patients (0.36 +/- 0.042, AD, versus 0.16 +/- 0.027, controls [allele frequency estimate +/- standard error], p = 0.00031). Spouse controls did not differ from CEPH grandparent controls from the Centre d'Etude du Polymorphisme Humain (CEPH) or from literature controls. A large combined series of autopsy-documented sporadic AD patients also demonstrated highly significant association with the APOE epsilon 4 allele (0.40 +/- 0.026, p < or = 0.00001). These data support the involvement of ApoE epsilon 4 in the pathogenesis of late-onset familial and sporadic AD. ApoE isoforms may play an important role in the metabolism of beta-peptide, and APOE epsilon 4 may operate as a susceptibility gene (risk factor) for the clinical expression of AD.

Full Text

Duke Authors

Cited Authors

  • Saunders, AM; Strittmatter, WJ; Schmechel, D; George-Hyslop, PH; Pericak-Vance, MA; Joo, SH; Rosi, BL; Gusella, JF; Crapper-MacLachlan, DR; Alberts, MJ

Published Date

  • August 1993

Published In

Volume / Issue

  • 43 / 8

Start / End Page

  • 1467 - 1472

PubMed ID

  • 8350998

Pubmed Central ID

  • 8350998

International Standard Serial Number (ISSN)

  • 0028-3878

Digital Object Identifier (DOI)

  • 10.1212/wnl.43.8.1467


  • eng

Conference Location

  • United States