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- Publisher
- Springer Journals
- Copyright
- Copyright © 1994 by Nature Publishing Group
- Subject
- Biomedicine; Biomedicine, general; Human Genetics; Cancer Research; Agriculture; Gene Function; Animal Genetics and Genomics
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- DOI
- 10.1038/ng0694-180
- Publisher site
- See Article on Publisher Site
Abstract
Gene dosage of the apolipoprotein E (APOE) ε4 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 ε2 allele, in addition to the dose effect of the ε4 allele in sporadic AD. Although a substantial proportion (65%) of AD is attributable to the presence of ε4 alleles, risk of AD is lowest in subjects with the ε2/ε3 genotype, with an additional 23% of AD attributable to the absence of an ε2 allele. The opposite actions of the ε2 and ε4 alleles further support the direct involvement of APOE in the pathogenesis of AD.
Journal
Nature Genetics – Springer Journals
Published: Jun 1, 1994