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Lysosomal polygenic risk is associated with the severity of neuropathology in Lewy body disease.


ABSTRACT: Intraneuronal accumulation of misfolded α-synuclein is the pathological hallmark of Parkinson's disease and dementia with Lewy bodies, often co-occurring with variable degrees of Alzheimer's disease related neuropathology. Genetic association studies have successfully identified common variants associated with disease risk and phenotypic traits in Lewy body disease, yet little is known about the genetic contribution to neuropathological heterogeneity. Using summary statistics from Parkinson's disease and Alzheimer's disease genome-wide association studies, we calculated polygenic risk scores and investigated the relationship with Lewy, amyloid-β and tau pathology. Associations were nominated in neuropathologically defined samples with Lewy body disease from the Netherlands Brain Bank (n =

SUBMITTER: Tunold JA 

PROVIDER: S-EPMC10545498 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature