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Basic Science and Pathogenesis.
Vivek Ruhela1, Basilio Cieza1, Richard Mayeux2
1Columbia University, New York, NY, USA.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 25, 2025
Summary
This study identified specific gene variants linked to Alzheimer's disease risk in Hispanic and Non-Hispanic White brain samples. These findings highlight ancestry-specific genetic regulation and potential targets for precision medicine.
Area of Science:
- Genomics
- Neuroscience
- Population Genetics
Background:
- Expression quantitative trait loci (eQTL) studies enhance understanding of gene regulation in complex diseases like Alzheimer's disease (AD).
- Limited research exists on eQTL across diverse ethnic groups, necessitating population-specific analyses.
- Prefrontal cortical brain samples were utilized from the New York Brain Bank.
Purpose of the Study:
- To identify expression quantitative trait loci (eQTL) across different ethnic groups.
- To investigate genetic regulatory mechanisms underlying Alzheimer's disease (AD) risk.
- To assess shared and ancestry-specific genetic variants influencing AD.
Main Methods:
- RNA-Seq data from 32 Hispanic and 263 Non-Hispanic White (NHW) prefrontal cortical brain samples were analyzed.
- Stratified cis- and trans-eQTL analyses were performed using TensorQTL.
- Genome-Wide Association Study (GWAS) and eCAVIAR were employed to assess genetic colocalization and identify causal variants.
Main Results:
- A cis-eQTL and GWAS signal colocalization was observed for the EHD1 gene in Hispanic brains (rs755980338, posterior probability = 0.9947).
- Strong trans-eQTL and GWAS signal colocalization was identified for TMEM68 and DEFA10P in NHW brains (rs7840855, posterior probability = 0.7).
- These findings indicate shared causal variants with functional relevance in AD risk.
Conclusions:
- Population-stratified eQTL and colocalization analyses are crucial for understanding complex disease genetics.
- EHD1, TMEM68, and DEFA10P may play ancestry-specific roles in Alzheimer's disease pathogenesis.
- Insights into AD genetic architecture can inform precision medicine strategies across diverse populations.
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