Article

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

2024-02-24

Abstract excerpt

Recently, a novel African ancestry specific Parkinson’s disease (PD) risk signal was identified at the gene encoding glucocerebrosidase ( GBA1 ). This variant (rs3115534-G) is carried by ∼50% of West African PD cases and imparts a dose-dependent increase in risk for disease. The risk variant has varied frequencies across African ancestry groups, but is almost absent in European and Asian ancestry populations. GBA1...

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Literature Corpus work: fb113bfc-c7b7-5f89-9a55-d37e15d88889
DOI: 10.1101/2024.02.20.24302827

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