Evidence map›Paper›PMID 41239902›Full record

SynthesisMovement disorders : official journal of the Movement Disorder Society2026

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility.

Sitki Cem Parlar, Yoomin Lee, Ziv Gan-Or

Abstract readMeta-Analysis
In one paragraph

Synthesis in Movement disorders : official journal of the Movement Disorder Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Sitki Cem ParlarDepartment of Human Genetics, McGill University, Montréal, Québec, Canada.
Yoomin LeeThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.
Ziv Gan-OrDepartment of Human Genetics, McGill University, Montréal, Québec, Canada.ORCID https://orcid.org/0000-0003-0332-234X

Funding

CIHR 199393Fonds de Recherche du Québec - SantéGalen and Hilary Weston FoundationG-Can (GBA1-Canada) InitiativeMichael J. Fox Foundation for Parkinson's Research
6 · The paper itself

Abstract

backgroundGBA1 variants cause Gaucher's disease (GD) in biallelic forms and increase Parkinson's disease (PD) risk in heterozygous carriers. Carriers of mild or severe variants (causing GD type 1 or types 2-3) can enroll in clinical trials, whereas those with GBA1 variants classified as unknown are typically excluded.

objectiveWe assessed the contribution of unknown variants to PD risk and their relevance for trial stratification.

methodsWe meta-analyzed 34 case-control studies (24,060 PD cases, 14,465 controls). Odds ratios (ORs) were estimated using random-effects models and stratified by the American College of Medical Genetics and Genomics (ACMG) criteria.

resultsUnknown variants also classified as variants of uncertain significance (VUSs) per ACMG criteria were associated with PD (OR = 1.59, 95% confidence interval [CI]: 1.25-2.02; I

conclusionsUnknown GBA1 variants may be considered provisionally in clinical trials if also classified as VUS, likely pathogenic, or pathogenic per ACMG criteria. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Indexed as

Genetic Predisposition to DiseaseGlucosylceramidaseParkinson DiseaseCase-Control StudiesGaucher DiseaseHumansGBA protein, humanGlucosylceramidaseclinical trialsGBA1Parkinson's disease

Identifiers

PMID41239902
PMCPMC13022579

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.