@article{45253cd8a4ef4452bbb22feab6f63190,
title = "Exceptionally low likelihood of Alzheimer{\textquoteright}s dementia in APOE2 homozygotes from a 5,000-person neuropathological study",
abstract = "Each additional copy of the apolipoprotein E4 (APOE4) allele is associated with a higher risk of Alzheimer{\textquoteright}s dementia, while the APOE2 allele is associated with a lower risk of Alzheimer{\textquoteright}s dementia, it is not yet known whether APOE2 homozygotes have a particularly low risk. We generated Alzheimer{\textquoteright}s dementia odds ratios and other findings in more than 5,000 clinically characterized and neuropathologically characterized Alzheimer{\textquoteright}s dementia cases and controls. APOE2/2 was associated with a low Alzheimer{\textquoteright}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{\textquoteright}s disease could have a major impact on the understanding, treatment and prevention of the disease.",
author = "{The Alzheimer{\textquoteright}s Disease Genetics Consortium} and Reiman, {Eric M.} and Arboleda-Velasquez, {Joseph F.} and Quiroz, {Yakeel T.} and Huentelman, {Matthew J.} and Beach, {Thomas G.} and Caselli, {Richard J.} and Yinghua Chen and Yi Su and Myers, {Amanda J.} and John Hardy and {Paul Vonsattel}, Jean and Younkin, {Steven G.} and Bennett, {David A.} and {De Jager}, {Philip L.} and Larson, {Eric B.} and Crane, {Paul K.} and Keene, {C. Dirk} and Kamboh, {M. Ilyas} and Kofler, {Julia K.} and Linda Duque and Gilbert, {John R.} and Gwirtsman, {Harry E.} and Buxbaum, {Joseph D.} and Dickson, {Dennis W.} and Frosch, {Matthew P.} and Ghetti, {Bernardino F.} and Lunetta, {Kathryn L.} and Wang, {Li San} and Hyman, {Bradley T.} and Kukull, {Walter A.} and Tatiana Foroud and Haines, {Jonathan L.} and Mayeux, {Richard P.} and Pericak-Vance, {Margaret A.} and Schneider, {Julie A.} and Trojanowski, {John Q.} and Farrer, {Lindsay A.} and Schellenberg, {Gerard D.} and Beecham, {Gary W.} and Montine, {Thomas J.} and Jun, {Gyungah R.} and Erin Abner and Adams, {Perrie M.} and Albert, {Marilyn S.} and Albin, {Roger L.} and Apostolova, {Liana G.} and Arnold, {Steven E.} and Sanjay Asthana and Goate, {Alison M.} and Mary Sano",
note = "Publisher Copyright: {\textcopyright} 2020, The Author(s).",
year = "2020",
month = dec,
day = "1",
doi = "10.1038/s41467-019-14279-8",
language = "English",
volume = "11",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "Nature Publishing Group",
number = "1",
}