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Basic Science and Pathogenesis.

Merve Atik1, Joseph S Reddy2, Thuy T Nguyen2

  • 1Mayo Clinic Graduate School of Biomedical Sciences, Florida, FL, USA.

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|December 24, 2025
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Summary
This summary is machine-generated.

This study expands genome-wide association studies to identify genetic variants linked to cerebral amyloid angiopathy (CAA) and Alzheimer's Disease (AD). Findings highlight the LINC-PINT variant's association with lower CAA, offering potential therapeutic targets.

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Area of Science:

  • Neuroscience
  • Genetics
  • Pathology

Background:

  • Cerebral amyloid angiopathy (CAA) involves amyloid-beta accumulation in cerebrovasculature, compromising blood vessel integrity and accelerating cognitive decline in Alzheimer's Disease (AD).
  • Previous genome-wide association studies (GWAS) linked a LINC-PINT splice variant to reduced CAA levels in non-APOEe4 individuals and increased LINC-PINT expression in AD brains.
  • This research expands the GWAS cohort to include more AD and non-AD donors with CAA scores.

Purpose of the Study:

  • To identify genetic variants associated with cerebral amyloid angiopathy (CAA) through an expanded genome-wide association study (GWAS).
  • To investigate the role of the LINC-PINT splice variant in CAA, particularly in relation to APOEe4 status and AD.
  • To explore the genetic architecture of CAA in both AD and non-AD individuals.

Main Methods:

  • Expanded GWAS incorporating genetic data from 550 AD and 502 non-AD donors from the Mayo Clinic Brain Bank.
  • Performed quality control and imputation (TOPMED) on all datasets.
  • Conducted GWAS using linear regression, testing imputed variant dosages against CAA scores, with adjustments for covariates and interaction analyses with APOEe4 presence and sex.

Main Results:

  • Variants at the APOE locus were the most significant findings.
  • Several other variants approached genome-wide significance after adjusting for AD neuropathology (Braak stage, Thal phase).
  • The LINC-PINT splice variant confirmed its association with lower CAA scores in AD donors lacking the APOEe4 allele.

Conclusions:

  • The study provides further insights into the genetic underpinnings of CAA risk, relevant to both AD and non-AD contexts.
  • Characterizing genetic variants and their functional consequences may reveal novel biomarkers and therapeutic strategies for CAA.
  • CAA is a common comorbidity in individuals with and without AD, underscoring the importance of understanding its genetic basis.