Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regions

Abstract The canonical Alzheimer’s Disease (AD) pathological cascade posits that the accumulation of amyloid beta (Aβ) is the initiating event, accelerating the accumulation of tau in the entorhinal cortex (EC), which subsequently spreads into the neocortex. Here in a multi-cohort study (ADNI, A4, H...

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Main Authors: Joseph Giorgio, Caroline Jonson, Yilin Wang, Jennifer S. Yokoyama, Jingshen Wang, William J. Jagust, On behalf of the Alzheimer’s Disease Neuroimaging Initiative
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-60370-8
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author Joseph Giorgio
Caroline Jonson
Yilin Wang
Jennifer S. Yokoyama
Jingshen Wang
William J. Jagust
On behalf of the Alzheimer’s Disease Neuroimaging Initiative
author_facet Joseph Giorgio
Caroline Jonson
Yilin Wang
Jennifer S. Yokoyama
Jingshen Wang
William J. Jagust
On behalf of the Alzheimer’s Disease Neuroimaging Initiative
author_sort Joseph Giorgio
collection DOAJ
description Abstract The canonical Alzheimer’s Disease (AD) pathological cascade posits that the accumulation of amyloid beta (Aβ) is the initiating event, accelerating the accumulation of tau in the entorhinal cortex (EC), which subsequently spreads into the neocortex. Here in a multi-cohort study (ADNI, A4, HABS-HD) of 1354 participants with multimodal imaging and genetic information we queried how genetic variation affects these stages of the AD cascade. We observed that females and APOE-ε4 homozygotes are more susceptible to the effects of Aβ on the primary accumulation of tau, with greater EC tau for a given level of Aβ. Furthermore, we observed for individuals who have rare risk variants in TREM2 and/or APOE-ε4 homozygotes there was a greater spread of primary tau from the EC into the neocortex. These findings offer insights into the function of sex, APOE and microglia in AD progression and have implications for determining personalised treatment with drugs targeting Aβ and tau.
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spelling doaj-art-9dea6ac1795840d4b81962d1e5f4a9792025-08-20T04:01:36ZengNature PortfolioNature Communications2041-17232025-07-0116111210.1038/s41467-025-60370-8Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regionsJoseph Giorgio0Caroline Jonson1Yilin Wang2Jennifer S. Yokoyama3Jingshen Wang4William J. Jagust5On behalf of the Alzheimer’s Disease Neuroimaging InitiativeDepartment of Neuroscience, University of California BerkeleyCenter for Alzheimer’s and Related Dementias, National Institutes of HealthDepartment of Statistics and Actuarial Science, The University of IowaMemory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California, San FranciscoDivision of Biostatistics, University of California BerkeleyDepartment of Neuroscience, University of California BerkeleyAbstract The canonical Alzheimer’s Disease (AD) pathological cascade posits that the accumulation of amyloid beta (Aβ) is the initiating event, accelerating the accumulation of tau in the entorhinal cortex (EC), which subsequently spreads into the neocortex. Here in a multi-cohort study (ADNI, A4, HABS-HD) of 1354 participants with multimodal imaging and genetic information we queried how genetic variation affects these stages of the AD cascade. We observed that females and APOE-ε4 homozygotes are more susceptible to the effects of Aβ on the primary accumulation of tau, with greater EC tau for a given level of Aβ. Furthermore, we observed for individuals who have rare risk variants in TREM2 and/or APOE-ε4 homozygotes there was a greater spread of primary tau from the EC into the neocortex. These findings offer insights into the function of sex, APOE and microglia in AD progression and have implications for determining personalised treatment with drugs targeting Aβ and tau.https://doi.org/10.1038/s41467-025-60370-8
spellingShingle Joseph Giorgio
Caroline Jonson
Yilin Wang
Jennifer S. Yokoyama
Jingshen Wang
William J. Jagust
On behalf of the Alzheimer’s Disease Neuroimaging Initiative
Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regions
Nature Communications
title Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regions
title_full Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regions
title_fullStr Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regions
title_full_unstemmed Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regions
title_short Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regions
title_sort variable and interactive effects of sex apoe ε4 and trem2 on the deposition of tau in entorhinal and neocortical regions
url https://doi.org/10.1038/s41467-025-60370-8
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