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Basic Science and Pathogenesis.
Joseph Bradley1,2, Daniel Western1,2, Ciyang Wang1,2
1Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 24, 2025
Summary
This study identifies novel genetic loci and genes for early-onset Alzheimer disease (EOAD), revealing shared and unique genetic factors compared to late-onset AD. Findings may improve prediction models and therapeutic targets for EOAD.
Area of Science:
- Genetics
- Neuroscience
- Medical Research
Background:
- Alzheimer Disease (AD) is a polygenic dementia with early-onset (EOAD) cases presenting before 65.
- Approximately 90% of EOAD cases lack identified pathogenic mutations, indicating unknown genetic factors.
Purpose of the Study:
- To identify novel genetic loci associated with early-onset Alzheimer Disease (EOAD).
- To compare the genetic architecture of EOAD with late-onset Alzheimer Disease (LOAD).
- To nominate novel functional genes contributing to EOAD pathogenesis.
Main Methods:
- Genome-wide association study (GWAS) and trans-ancestry meta-analysis across European, African, and East Asian ancestries.
- QTL mapping and in-silico annotation to identify functional genes at genome-wide significant loci.
- Polygenic Risk Score (PRS) and Linkage Disequilibrium (LDSC) analyses to compare EOAD and LOAD genetic architecture.
Main Results:
- Identified 15 genome-wide significant loci, including 8 novel loci for EOAD.
- Nominated four novel functional genes (CDH12, FOLH1, ALG10B, LRRC25) implicated in microglial activation and signaling pathways.
- Demonstrated strong genetic correlation between EOAD and LOAD, with significant PRS association.
Conclusions:
- EOAD shares genetic factors with LOAD but also possesses unique genetic underpinnings.
- Novel identified genes and pathways offer potential for improved EOAD prediction models.
- Findings pave the way for targeted therapeutic strategies for early-onset Alzheimer Disease.
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