ArticleMolecular neurobiology2025
Genome-Wide Association Study of Glucocerebrosidase Activity Modifiers.
Article in Molecular neurobiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed.
- Lysosomal dysfunction in neurodegenerative disease.Nature reviews. Neurology · 2026Review
- Beyond Targeted Gene Panels: Whole-Exome Sequencing as a Strategic Platform for Precision Therapeutics in Alzheimer's Disease.Life (Basel, Switzerland) · 2026Review
- Clinical Trials in GBA1-Associated Parkinson's Disease: A Need for Molecular Classification.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Genome-wide association studies identify genetic determinants of synucleinopathy biomarkers.Research square · 2026Article
- Genomic Structural Equation Modeling Provides an Initial View of the Genetic Architecture Related to Type 1 Gaucher Disease.Human mutation · 2026Article
- Genome-wide association studies identify genetic determinants of synucleinopathy biomarkers.medRxiv : the preprint server for health sciences · 2025Article
- A Common PD-RiskbioRxiv : the preprint server for biology · 2025Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
One of the most common genetic risk factors for Parkinson's disease (PD) is variants in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase). GCase deficiency has been associated with an increased PD risk, but not all individuals with low GCase activity are carriers of GBA1 mutations, suggesting other factors may be acting as modifiers. We aimed to discover common variants associated with GCase activity, as well as replicate previously reported associations, by performing a genome-wide association study using two independent cohorts: a Columbia University cohort consisting of 697 PD cases and 347 controls and the Parkinson's Progression Markers Initiative (PPMI) cohort consisting of 357 PD cases and 163 controls. As expected, GBA1 variants have the strongest association with decreased activity, led by N370S (beta = - 4.36, se = 0.32, p = 5.05e - 43). We also identify a novel association in the GAA locus (encoding for acid alpha-glucosidase, beta = - 0.96, se = 0.17, p = 5.23e - 09) that may be the result of an interaction between GCase and acid alpha-glucosidase based on various interaction analyses. Lastly, we show that several PD-risk loci are potentially associated with GCase activity. Further research will be needed to replicate and validate our findings and to uncover the functional connection between acid alpha-glucosidase and GCase.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.