Article

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

2025-04-28

Abstract excerpt

<title>Abstract</title> <p>Heterozygous <italic>GBA1</italic> 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 <italic>GBA1</italic> variants (<italic>GBA1</italic><sub>PVs</sub>) to assess their combined impact on PD risk. <italic>GBA1</italic> variants were identified from whole ex...

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Literature Corpus work: 53feb118-8ebf-57cd-b550-6e10e3d641d0
DOI: 10.21203/rs.3.rs-5925919/v1

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