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Basic Science and Pathogenesis.

Makaela Mews1, Yousef Mustafa1, Nicholas R Wheeler2

  • 1Systems Biology & Bioinformatics, Department of Nutrition, School of Medicine, Case Western Reserve University, Cleveland, OH, USA.

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|December 25, 2025
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Summary
This summary is machine-generated.

Genetic variants influence Alzheimer's Disease (AD) risk by altering gene expression, with significant differences observed across diverse populations. These findings highlight the role of genetic regulation in AD pathogenesis and the need for multi-cohort studies.

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Area of Science:

  • Genetics
  • Neuroscience
  • Genomics

Background:

  • Genetic variation is a key factor in Alzheimer's Disease (AD) risk.
  • Gene expression changes are linked to AD but are poorly understood.
  • This study investigates how genetic variants affect gene expression in AD across different ethnicities.

Purpose of the Study:

  • To examine the impact of genetic variants on whole-blood gene expression in Alzheimer's Disease (AD).
  • To identify expression quantitative trait loci (eQTLs) and their interaction with AD status across diverse cohorts.
  • To understand cohort-specific genetic regulation of gene expression relevant to AD.

Main Methods:

  • Utilized RNA sequencing and TOPMed-imputed genotype data from the Alzheimer's Disease Sequencing Project (ADSP).
  • Performed cohort-stratified expression quantitative trait loci (eQTL) analysis, including AD status and interaction terms.
  • Adjusted for covariates such as sex, age, cohort substructure, cell-type proportions, and experimental factors.

Main Results:

  • Identified 68 significant interaction eQTLs (ieQTLs) shared across at least two cohorts, including CACNG6.
  • Observed enrichment for genes regulated by ZFHX3 and ELF2 transcription factors, suggesting immune regulatory alterations.
  • Found substantial cohort-specific ieQTLs (4,733 in African Americans, 4,322 in Non-Hispanic Whites, 3,084 in Caribbean Hispanics, 1,436 in Peruvians), with 20-30% overlapping known AD loci.

Conclusions:

  • eQTL analysis revealed significant cohort-specific differences in gene expression regulation related to AD.
  • Genetic variation appears to modulate immune-related pathways involved in AD pathogenesis.
  • Multi-cohort studies are crucial for developing effective Alzheimer's Disease therapies.