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Basic Science and Pathogenesis.

Bilcag Akgun1, Seung Hoan Choi2, John J Farrell3

  • 1John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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

The Alzheimer's Disease Sequencing Project identified novel genetic loci associated with Alzheimer's disease risk. These findings in whole genome sequencing data offer new insights into the genetic underpinnings of Alzheimer's disease and related dementias.

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Area of Science:

  • Genomics
  • Neuroscience
  • Population Genetics

Background:

  • The Alzheimer's Disease Sequencing Project (ADSP) aims to identify genetic variants influencing Alzheimer's disease (AD) risk and protection across diverse populations.
  • The latest ADSP whole genome sequencing (WGS) data release (R4) comprises data from over 36,000 individuals from 37 study cohorts.

Purpose of the Study:

  • To uncover novel genomic variants associated with Alzheimer's disease and related dementias (ADRDs) using WGS data.
  • To analyze genetic associations in both population-specific and pooled analyses to identify common and rare variants.
  • To enhance understanding of ADRD pathogenesis through comprehensive genetic analysis.

Main Methods:

  • Applied rigorous quality control at genotype, variant, and sample levels for WGS data.
  • Conducted population-specific analyses using generalized linear mixed models and meta-analyses for common and rare variants.
  • Performed pooled population analyses using gene-based association tests, accounting for covariates and population structure.

Main Results:

  • Identified four novel genome-wide significant loci (LMO1, FHIT, RPS3AP52, AC013762.1) and confirmed known loci (APOE, CR1) in population-specific analyses.
  • Discovered significant associations for rare variants in KIRREL1 and TNFRSF10B, and a suggestive association for TNS1 in pooled analyses.
  • Defined nine genetically distinct clusters from 8,697 ADRD cases and 14,758 controls based on genetic similarity.

Conclusions:

  • Novel genome-wide significant association found at LMO1, a gene implicated in transcriptional regulation and neuronal health.
  • Suggestive association at TNS1, previously linked to cognitive decline, highlights its potential role in ADRD.
  • Further ADSP studies in diverse populations are anticipated to reveal additional variant associations, advancing ADRD pathogenesis understanding.