Penetrance of Parkinson’s disease in GBA1 carriers depends on variant severity and polygenic background

Penetrance of Parkinson’s disease in GBA1 carriers depends on variant severity and polygenic background

Abstract Heterozygous GBA1 variants increase Parkinson’s disease (PD) risk with variable penetrance. We investigated the interaction between genome-wide polygenic risk scores (PRS) and severity of pathogenic GBA1 variants (GBA1 PVs) to assess their combined impact on PD risk. GBA1 variants were iden...

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Main Authors: Emadeldin Hassanin, Zied Landoulsi, Sinthuja Pachchek, NCER-PD Consortium, Peter Krawitz, Carlo Maj, Rejko Krüger, Patrick May, Dheeraj Reddy Bobbili
Format: Article
Language:English
Published: Nature Portfolio 2025-06-01
Series:npj Parkinson's Disease
Online Access:https://doi.org/10.1038/s41531-025-00997-y
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https://doi.org/10.1038/s41531-025-00997-y

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