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

12 Jun 2025

Abstract excerpt

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 identified from whole exome sequencing in the UK Biobank and targeted PacBio sequencing in the Luxembourg Parkinson’s...

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PMID: 40506446
DOI: 10.1038/s41531-025-00997-y

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