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Basic Science and Pathogenesis.

Alexandra N Regelson1,2, Derek B Archer1,2, Alaina Durant1,3

  • 1Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 24, 2025
PubMed
Summary
This summary is machine-generated.

Researchers identified nine genes linked to cognitive decline, including novel rare variants in SIGIRR, PLA2G4A, and HPN associated with executive function decline in aging and Alzheimer's Disease (AD).

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Area of Science:

  • Genetics
  • Neuroscience
  • Aging Research

Background:

  • Alzheimer's Disease (AD) exhibits significant heritability, yet much of it remains unexplained, potentially due to disease heterogeneity.
  • Sensitive longitudinal cognitive measures can serve as endophenotypes to uncover genetic drivers of cognitive decline.

Purpose of the Study:

  • To identify novel genetic drivers of cognitive decline in aging and Alzheimer's Disease (AD) using rare variant analysis.
  • To leverage sensitive longitudinal cognitive measures as endophenotypes in a large-scale genetic study.

Main Methods:

  • Utilized whole genome sequencing data from 8,481 participants across 8 cognitive aging cohorts.
  • Performed rare variant analyses on harmonized memory, executive function, and language domains using SKAT-O testing.
  • Included variants with minor allele frequency < 0.01 and high/moderate impact, adjusting for covariates and using FDR for multiple comparisons.

Main Results:

  • Identified 9 genes associated with cognitive domains: APOE and PSEN1 with baseline memory, PEDS1-UBE2V1 with baseline language.
  • Discovered 6 genes (HPN, HPN-AS1, GAB1, CXCL3, SIGIRR, PLA2G4A) associated with executive function decline.
  • Found significant associations between high-impact variants in SIGIRR, PLA2G4A, and HPN and executive function decline.

Conclusions:

  • Highlighted novel rare variants associated with cognitive function and decline in aging and AD.
  • GAB1 identified as a potential therapeutic target for AD, with observed effects in AD patients and mouse models.
  • PLA2G4A shows altered expression patterns in AD and healthy aging, suggesting a role in disease progression.