Short tandem repeat expansions are a novel genetic risk factor for Alzheimer’s disease
These results demonstrate that harboring a high burden of STR expansions in the genome increases risk of AD and that STR expansions may serve as a novel genomic biomarker of AD risk and neuropathologic progression. Our findings suggest that STRs may disrupt gene expression and underscore the pivotal role of genomic instability in the onset and progression of AD.
Authors
- Wan‐Ping Lee (ORCID: https://orcid.org/0000-0002-5305-1181)
- Michael H. Guo (ORCID: https://orcid.org/0000-0002-1357-6389)
- Jennifer E. Phillips‐Cremins (ORCID: https://orcid.org/0000-0002-4702-0450)
- Badri Narayan Vardarajan (ORCID: https://orcid.org/0000-0002-5560-4085)
- Gerard D. Schellenberg (ORCID: https://orcid.org/0000-0003-1115-2475)
Institutions
- Columbia University Irving Medical Center (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/alz.089952
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00