GBA1 Gene-Associated Transcriptomic Signatures Reveal Risk Genes in Parkinson's Disease.

ABSTRACT: Background/Objectives: Pathogenic variants in the GBA1 gene, which encodes the lysosomal enzyme β-glucocerebrosidase, cause Gaucher disease (GD) and represent one of the strongest genetic risk factors for Parkinson's disease (PD). However, not all carriers develop PD, suggesting the involvement of additional modifiers. Transcriptomic alterations shared between GD and PD may reveal such modifiers and provide insights into the mechanisms linking GBA1 to PD. Methods: Eighteen transcriptomic datasets spanning GD, GBA1-associated PD, and sporadic PD were integrated to identify shared, directionally concordant differentially expressed genes, followed by pathway enrichment analysis. Causal relationships were assessed using two-sample Mendelian randomisation with

SUBMITTER: Liu Y 

PROVIDER: S-EPMC12650622 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature