MétaCan
Menu
Back to cohort
Record W4409788200 · doi:10.1101/2025.04.23.25324774

Lack of association between <i>G6PD</i> variants and Parkinson’s disease

2025· preprint· en· W4409788200 on OpenAlexafffund
Leah V. Chifamba, Sitki Cem Parlar, Lang Liu, Leonard L. Sokol, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Jennifer A. Ruskey, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Irina Miliukhina, Lior Greenbaum, Sharon Hassin‐Baer, Roy N. Alcalay, Alberto J. Espay, Ziv Gan‐Or, Konstantin Senkevich

Bibliographic record

VenuemedRxiv · 2025
Typepreprint
Languageen
FieldMedicine
TopicNeonatal Health and Biochemistry
Canadian institutionsUniversité LavalMcGill University
FundersNational Institutes of HealthVerily Life SciencesCompute CanadaMcGill UniversityPfizerCanada First Research Excellence FundCelgeneNational Institute of Neurological Disorders and StrokeSanofiMichael J. Fox Foundation for Parkinson's ResearchFoundation for the National Institutes of Health
KeywordsParkinson's diseaseAssociation (psychology)DiseaseGenetic associationMedicineGeneticsBiologyInternal medicinePsychologyGenotypeSingle-nucleotide polymorphismGene

Abstract

fetched live from OpenAlex

Abstract Oxidative stress has been implicated in Parkinson’s disease (PD). Genes involved in PD, such as PRKN, PINK1 and PARK7 , contribute to oxidative stress in dopaminergic neurons. The X-linked G6PD gene encodes glucose 6-phosphate dehydrogenase, an important regulator of oxidative stress. Recent studies suggested that alpha-synuclein aggregates may impair G6PD activity and contribute to dopaminergic neuron loss, and that G6PD mutations may independently increase the risk of PD. In this study, we aimed to examine the role of common and rare G6PD variants in PD across six cohorts including 8,905 PD patients, 16,770 proxy-patients, 394,098 controls. These cohorts were analyzed after stratification by sex and then combined to account for the G6PD X-linked location. Using logistic regression, we did not identify significant associations for common variants in any of the cohorts. The Combined and Multivariate Collapsing Wald (CMC-Wald) test was performed to assess the cumulative effect of rare variants (minor allele frequency &lt; 0.01) across six cohorts, followed by a meta-analysis, also demonstrating lack of association. In conclusion, we did not find evidence for a role for G6PD in PD.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.014
Threshold uncertainty score0.603

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.034
GPT teacher head0.328
Teacher spread0.295 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2025
Admission routes2
Has abstractyes

Explore more

Same venuemedRxivSame topicNeonatal Health and BiochemistryFrench-language works237,207