Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease.


Journal Article

Gene dosage of the apolipoprotein E (APOE) epsilon 4 allele is a major risk factor for familial Alzheimer disease (AD) of late onset (after age 60). Here we studied a large series of 115 AD case subjects and 243 controls as well as 150 affected and 197 unaffected members of 66 AD families. Our data demonstrate a protective effect of the epsilon 2 allele, in addition to the dose effect of the epsilon 4 allele in sporadic AD. Although a substantial proportion (65%) of AD is attributable to the presence of epsilon 4 alleles, risk of AD is lowest in subjects with the epsilon 2/epsilon 3 genotype, with an additional 23% of AD attributable to the absence of an epsilon 2 allele. The opposite actions of the epsilon 2 and epsilon 4 alleles further support the direct involvement of APOE in the pathogenesis of AD.

Full Text

Duke Authors

Cited Authors

  • Corder, EH; Saunders, AM; Risch, NJ; Strittmatter, WJ; Schmechel, DE; Gaskell, PC; Rimmler, JB; Locke, PA; Conneally, PM; Schmader, KE

Published Date

  • June 1, 1994

Published In

Volume / Issue

  • 7 / 2

Start / End Page

  • 180 - 184

PubMed ID

  • 7920638

Pubmed Central ID

  • 7920638

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng0694-180


  • eng

Conference Location

  • United States