Details

Autor(en) / Beteiligte

• Reiman, Eric M.
• Arboleda-Velasquez, Joseph F.
• Quiroz, Yakeel T.
• Huentelman, Matthew J.
• Beach, Thomas G.
• Caselli, Richard J.
• Chen, Yinghua
• Su, Yi
• Myers, Amanda J.
• Hardy, John
• Paul Vonsattel, Jean
• Younkin, Steven G.
• Bennett, David A.
• De Jager, Philip L.
• Larson, Eric B.
• Crane, Paul K.
• Keene, C. Dirk
• Kamboh, M. Ilyas
• Kofler, Julia K.
• Duque, Linda
• Gilbert, John R.
• Gwirtsman, Harry E.
• Buxbaum, Joseph D.
• Dickson, Dennis W.
• Frosch, Matthew P.
• Ghetti, Bernardino F.
• Lunetta, Kathryn L.
• Wang, Li-San
• Hyman, Bradley T.
• Kukull, Walter A.
• Foroud, Tatiana
• Haines, Jonathan L.
• Mayeux, Richard P.
• Pericak-Vance, Margaret A.
• Schneider, Julie A.
• Trojanowski, John Q.
• Farrer, Lindsay A.
• Schellenberg, Gerard D.
• Beecham, Gary W.
• Montine, Thomas J.
• Jun, Gyungah R.

Titel

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

Ist Teil von

• Nature communications, 2020-02, Vol.11 (1), p.667-667, Article 667

Ort / Verlag

London: Nature Publishing Group UK

Erscheinungsjahr

2020

Quelle

MEDLINE

Beschreibungen/Notizen

• Each additional copy of the apolipoprotein E4 (APOE4) allele is associated with a higher risk of Alzheimer’s dementia, while the APOE2 allele is associated with a lower risk of Alzheimer’s dementia, it is not yet known whether APOE2 homozygotes have a particularly low risk. We generated Alzheimer’s dementia odds ratios and other findings in more than 5,000 clinically characterized and neuropathologically characterized Alzheimer’s dementia cases and controls. APOE2/2 was associated with a low Alzheimer’s dementia odds ratios compared to APOE2/3 and 3/3, and an exceptionally low odds ratio compared to APOE4/4, and the impact of APOE2 and APOE4 gene dose was significantly greater in the neuropathologically confirmed group than in more than 24,000 neuropathologically unconfirmed cases and controls. Finding and targeting the factors by which APOE and its variants influence Alzheimer’s disease could have a major impact on the understanding, treatment and prevention of the disease. 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.