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Polygenic Risk Scores Validated in Patient-Derived Cells Stratify for Mitochondrial Subtypes of Parkinson's Disease.

Annals of neurology - 1 Jul 2024

Arena Giuseppe, Landoulsi Zied, Grossmann Dajana, Payne Thomas, Vitali Armelle, Delcambre Sylvie, Baron Alexandre, Antony Paul, Boussaad Ibrahim, Bobbili Dheeraj Reddy, Sreelatha Ashwin Ashok Kumar, Pavelka Lukas, J Diederich Nico, Klein Christine, Seibler Philip, Glaab Enrico, Foltynie Thomas, Bandmann Oliver, Sharma Manu, Krüger Rejko, May Patrick, Grünewald Anne

Abstract excerpt

OBJECTIVE: The aim of our study is to better understand the genetic architecture and pathological mechanisms underlying neurodegeneration in idiopathic Parkinson's disease (iPD). We hypothesized that a fraction of iPD patients may harbor a combination of common variants in nuclear-encoded mitochondrial genes ultimately resulting in neurodegeneration. METHODS: We used mitochondria-specific polygenic risk scores...

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PMID: 38767023
DOI: 10.1002/ana.26949

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