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[Preprint]. 2024 Jun 21:2024.06.21.24309255. [Version 1] doi: 10.1101/2024.06.21.24309255

Brain Cell-based Genetic Subtyping and Drug Repositioning for Alzheimer Disease

Nathan Sahelijo, Priya Rajagopalan, Lu Qian, Rufuto Rahman, Dhawal Priyadarshi, Daniel Goldstein, Sophia I Thomopoulos, David A Bennett, Lindsay A Farrer, Thor D Stein; AI4AD Consortium, Li Shen, Heng Huang, Kwangsik Nho, Saykin J Andrew, Christos Davatzikos, Paul M Thompson, Julia TCW, Gyungah R Jun
PMCID: PMC11213108  PMID: 38947056

Abstract

Alzheimer’s Disease (AD) is characterized by its complex and heterogeneous etiology and gradual progression, leading to high drug failure rates in late-stage clinical trials. In order to better stratify individuals at risk for AD and discern potential therapeutic targets we employed a novel procedure utilizing cell-based co-regulated gene networks and polygenic risk scores (cbPRSs). After defining genetic subtypes using extremes of cbPRS distributions, we evaluated correlations of the genetic subtypes with previously defined AD subtypes defined on the basis of domain-specific cognitive functioning and neuroimaging biomarkers. Employing a PageRank algorithm, we identified priority gene targets for the genetic subtypes. Pathway analysis of priority genes demonstrated associations with neurodegeneration and suggested candidate drugs currently utilized in diabetes, hypertension, and epilepsy for repositioning in AD. Experimental validation utilizing human induced pluripotent stem cell (hiPSC)-derived astrocytes demonstrated the modifying effects of estradiol, levetiracetam, and pioglitazone on expression of APOE and complement C4 genes, suggesting potential repositioning for AD.

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