Nature Communications (Feb 2020)

Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

  • Eric M. Reiman,
  • Joseph F. Arboleda-Velasquez,
  • Yakeel T. Quiroz,
  • Matthew J. Huentelman,
  • Thomas G. Beach,
  • Richard J. Caselli,
  • Yinghua Chen,
  • Yi Su,
  • Amanda J. Myers,
  • John Hardy,
  • Jean Paul Vonsattel,
  • Steven G. Younkin,
  • David A. Bennett,
  • Philip L. De Jager,
  • Eric B. Larson,
  • Paul K. Crane,
  • C. Dirk Keene,
  • M. Ilyas Kamboh,
  • Julia K. Kofler,
  • Linda Duque,
  • John R. Gilbert,
  • Harry E. Gwirtsman,
  • Joseph D. Buxbaum,
  • Dennis W. Dickson,
  • Matthew P. Frosch,
  • Bernardino F. Ghetti,
  • Kathryn L. Lunetta,
  • Li-San Wang,
  • Bradley T. Hyman,
  • Walter A. Kukull,
  • Tatiana Foroud,
  • Jonathan L. Haines,
  • Richard P. Mayeux,
  • Margaret A. Pericak-Vance,
  • Julie A. Schneider,
  • John Q. Trojanowski,
  • Lindsay A. Farrer,
  • Gerard D. Schellenberg,
  • Gary W. Beecham,
  • Thomas J. Montine,
  • Gyungah R. Jun,
  • The Alzheimer’s Disease Genetics Consortium

DOI
https://doi.org/10.1038/s41467-019-14279-8
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 11

Abstract

Read online

APOE is the major genetic risk factor for Alzheimer’s disease. In a large number of neuropathologically confirmed cases and controls, the impact of different APOE genotypes on Alzheimer’s dementia risk was greater than previously thought and APOE2 homozygotes had an exceptionally low risk.