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Basic Science and Pathogenesis.
Ting-Chen Wang1,2, Jigyasha Timsina3,4, Chenyang Jiang5,6,7
1Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 23, 2025
Summary
This study found novel female-specific genetic associations for Alzheimer's disease (AD) biomarkers in cerebrospinal fluid (CSF). These findings emphasize the importance of sex-specific genetic analyses for understanding AD.
Area of Science:
- Genetics
- Neuroscience
- Biomarkers
Background:
- Cerebrospinal fluid (CSF) biomarkers like amyloid-β 42 (Aβ42) are crucial for Alzheimer's disease (AD) genome-wide association studies (GWAS).
- Understanding AD biological processes requires analysis beyond traditional case-control studies.
- This study utilizes the largest sample size to date (N=18,491) for sex-stratified GWAS of CSF biomarkers.
Purpose of the Study:
- To identify sex-specific genetic associations with AD pathology.
- To perform sex-stratified genome-wide association studies (GWAS) on Aβ42, Tau, and phosphorylated tau (pTau181) CSF biomarkers.
- To elucidate the genetic architecture of AD by considering sex differences.
Main Methods:
- Conducted meta-analyses of sex-stratified GWAS across 22 US and European cohorts (N=6,785) and six external cohorts (N=11,706).
- Applied consistent quality control and z-score standardization for CSF biomarker values.
- Adjusted GWAS for age, principal components of genetic ancestry, and cohort-array combinations.
Main Results:
- Identified seven genome-wide significant loci, including three novel female-specific associations.
- Discovered a novel female-specific association for Aβ42 (rs372578) and Tau (rs1582763).
- Found a novel female-specific association for pTau181 (rs6434518), linked to immune response and lipid metabolism genes.
Conclusions:
- Highlighted significant female-specific genetic associations for CSF biomarkers in AD.
- Emphasized the critical role of sex-specific genetic analyses in understanding AD.
- Advanced the comprehension of AD genetic architecture by revealing sex-based differences.
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