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

E. H. Corder; A. M. Saunders; N. J. Risch; W. J. Strittmatter; D. E. Schmechel; P. C. Gaskell; J. B. Rimmler; P. A. Locke; P. M. Conneally; K. E. Schmader; G. W. Small; A. D. Roses; J. L. Haines; Margaret A Pericak-Vance

doi:10.1038/ng0694-180

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

E. H. Corder, A. M. Saunders, N. J. Risch, W. J. Strittmatter, D. E. Schmechel, P. C. Gaskell, J. B. Rimmler, P. A. Locke, P. M. Conneally, K. E. Schmader, G. W. Small, A. D. Roses, J. L. Haines, Margaret A Pericak-Vance

Research output: Contribution to journal › Article

1314 Scopus citations

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.

Original language	English
Pages (from-to)	180-184
Number of pages	5
Journal	Nature Genetics
Volume	7
Issue number	2
DOIs	https://doi.org/10.1038/ng0694-180
State	Published - Jun 1 1994
Externally published	Yes

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ASJC Scopus subject areas

Genetics(clinical)
Genetics

Cite this

Corder, E. H., Saunders, A. M., Risch, N. J., Strittmatter, W. J., Schmechel, D. E., Gaskell, P. C., Rimmler, J. B., Locke, P. A., Conneally, P. M., Schmader, K. E., Small, G. W., Roses, A. D., Haines, J. L., & Pericak-Vance, M. A. (1994). Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nature Genetics, 7(2), 180-184. https://doi.org/10.1038/ng0694-180

Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. / Corder, E. H.; Saunders, A. M.; Risch, N. J.; Strittmatter, W. J.; Schmechel, D. E.; Gaskell, P. C.; Rimmler, J. B.; Locke, P. A.; Conneally, P. M.; Schmader, K. E.; Small, G. W.; Roses, A. D.; Haines, J. L.; Pericak-Vance, Margaret A.

In: Nature Genetics, Vol. 7, No. 2, 01.06.1994, p. 180-184.

Research output: Contribution to journal › Article

Corder, E. H. ; Saunders, A. M. ; Risch, N. J. ; Strittmatter, W. J. ; Schmechel, D. E. ; Gaskell, P. C. ; Rimmler, J. B. ; Locke, P. A. ; Conneally, P. M. ; Schmader, K. E. ; Small, G. W. ; Roses, A. D. ; Haines, J. L. ; Pericak-Vance, Margaret A. / Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. In: Nature Genetics. 1994 ; Vol. 7, No. 2. pp. 180-184.

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