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Basic Science and Pathogenesis
Khine Zin Aung1,2, Xian Wu1,2, Inori Tsuchiya1,2
1Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 25, 2025
Summary
This study explored multiallelic variants in brain arteriolosclerosis (B-ASC), a common cause of cognitive decline in the elderly. Novel genetic associations were identified, advancing our understanding of B-ASC pathogenesis.
Area of Science:
- Genetics
- Neuropathology
- Genomics
Background:
- Brain arteriolosclerosis (B-ASC) is a common small vessel disease in the elderly, linked to cognitive and motor impairments.
- Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) associated with B-ASC.
- Standard GWAS methods often overlook multiallelic variants, necessitating advanced analytical approaches.
Purpose of the Study:
- To investigate the association between multiallelic variants and autopsy-confirmed B-ASC.
- To explore the genetic architecture of B-ASC beyond single nucleotide polymorphisms (SNPs).
Main Methods:
- Utilized whole-genome sequencing (WGS) data from the Alzheimer's Disease Sequencing Project (ADSP).
- Employed score-based testing within a generalized linear model framework for multiallelic variant analysis.
- Analyzed autopsy-confirmed B-ASC phenotype data from the National Alzheimer's Coordinating Center (NACC) dataset.
Main Results:
- Retained 1,388,681 multiallelic variants after quality control.
- Identified genomic regions and genes (HULC, CCDC3, DCUN1D2) with potential involvement in B-ASC (p < 1x10^-5).
- These findings suggest novel loci contributing to the genetic basis of B-ASC.
Conclusions:
- This study highlights the importance of investigating multiallelic variants in B-ASC.
- Identified potential novel genetic variants associated with B-ASC pathogenesis.
- Further validation in independent datasets is required to confirm these findings.
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