Is SORL1 a common genetic target across neurodegenerative diseases? A multi-ancestry biobank study - PubMed
4 hours ago
- #SORL1
- #Neurodegeneration
- #Genetic Variants
- SORL1 is studied as a potential therapeutic target beyond Alzheimer's disease (AD).
- The research involved multi-ancestry data from six biobanks with cases of AD, related dementias (RD), and Parkinson's disease (PD).
- 53 potentially disease-related SORL1 variants were identified, with 13 in AD cohorts, 5 in RD, and 35 in PD.
- Association analysis found 10 nominally significant variants for AD and 5 for PD.
- Burden analysis showed a nominal association of SORL1 variants with PD in South Asian populations.
- Family-based analysis identified rare variants in East Asian and European families linked to PD.
- The study highlights SORL1's broad role in neurodegeneration and the importance of diverse population research.