The genetic landscape of early‐onset Alzheimer's disease in China
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.
Authors
- Jianping Jia (ORCID: https://orcid.org/0000-0003-4624-0336)
- Fangyu Li (ORCID: https://orcid.org/0000-0003-2340-3622)
- Wenying Liu (ORCID: https://orcid.org/0000-0001-5130-0765)
- Wei Qin (ORCID: https://orcid.org/0000-0001-8042-8784)
- Shuman Cao (ORCID: https://orcid.org/0000-0002-5743-6847)
- Yanyan Wang (ORCID: https://orcid.org/0009-0000-5116-7001)
- Li Y (ORCID: https://orcid.org/0000-0003-1032-2292)
- Ying Li (ORCID: https://orcid.org/0000-0002-8899-7313)
- Qiu-Jun Wang
- Yi‐Ping Wei
Institutions
- Ministry of Education of the People's Republic of China (CN)
- Capital Medical University (CN)
- Beijing Geriatric Hospital (CN)
- National Clinical Research Center for Digestive Diseases (CN)
- Chinese Institute for Brain Research (CN)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1002/alz.14486
- Citations
- 7
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 12.72
Funders
- Westlake University
- National Natural Science Foundation of China
- National Key Scientific Instrument and Equipment Development Projects of China