Genetic validation of ABI3 p.Ser209Phe variant and its effects on early brain pathology in asymptomatic elderly individuals
ABI3<sup>S209F</sup> increases AD risk and is associated with earlier disease onset. The variant alone does not significantly influence cortical Aβ deposition, neuroinflammation, or brain structure. Its effect may be pronounced in combination with APOEε4.
Authors
- Ngandu Tiia
- Henna Martiskainen (ORCID: https://orcid.org/0000-0003-2796-1859)
- Mikko Koivumäki
- Jenni Lehtisalo
- Mari Takalo
- Mikko Hiltunen
- Anniina Snellman
- Juha O. Rinne
- FinnGen
Institutions
- University of Turku (FI)
- University of Eastern Finland (FI)
- Turku University Hospital (FI)
- Karolinska Institutet (SE)
- Finnish Institute for Health and Welfare (FI)
- Turku PET Centre (FI)
Publication Details
- Journal
- Alzheimer s Research & Therapy
- Published
- 2026-02-19
- DOI
- https://doi.org/10.1186/s13195-026-01984-y
- Primary Topic
- Alzheimer's disease research and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00