ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2025
The genetic landscape of early-onset Alzheimer's disease in China.
Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Evolutionary sex bias in cognitive response to new environmental risk factor - PM2.5.Biology of sex differences · 2025Review
- Real-world prediction of early-onset dementia by health record data: A multi-center machine learning study.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Beyond the Genotype: A Multi-Omic Analysis of APOEe4's Role in Alzheimer's Disease.bioRxiv : the preprint server for biology · 2025Article
- The genetic landscape of early-onset Alzheimer's disease in China.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
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Authors and funding
10 authors.
Funding
Abstract
introductionResearch on somatic and germline mutations in Chinese individuals with early-onset Alzheimer's disease (EOAD) has been limited.
methodsWe conducted whole-genome sequencing of blood DNA from 108 patients with EOAD and 116 controls. The analysis included somatic and germline mutations across coding and non-coding regions, mutational signature determination, pathway enrichment identification, and predictive model.
resultsThe mutational burden was significantly higher in the EOAD group compared to the control group. The prevalence of single-base substitution signature 5, which is strongly associated with aging, was much higher in patients with EOAD than in controls. EOAD-specific somatic mutations were identified in genes such as MIR31HG, TUBB4B, and APP. Germline mutations in DOCK3, PCSK5, and PDE4D were significantly associated with age of dementia onset. Furthermore, a predictive model comprising 15 mutations demonstrated an area under the curve of 0.78. DISCUSSION: The accumulation of senescence-related somatic mutations may increase the risk of developing EOAD. HIGHLIGHTS: Whole genome sequencing was used to find somatic and germline mutations in Chinese individuals with early-onset Alzheimer's disease (EOAD). Total number and burden of blood somatic mutations were significantly higher. The prevalence of single-base substitution signature 5 was notably elevated in EOAD. EOAD-specific somatic mutations were identified in MIR31HG, TUBB4B, and APP. DOCK3, PCSK5, and PDE4D germline mutations were associated with the age of EOAD onset.
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