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Record W4401517042 · doi:10.1002/mds.29960

Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa‐Induced Dyskinesia

2024· article· en· W4401517042 on OpenAlexafffund
Yuri L. Sosero, Sara Bandrés‐Ciga, Bart Ferwerda, Maria Teresa Periñan Tocino, Dìaz R. Belloso, Pilar Gómez‐Gil, Johann Faouzi, Pille Taba, Lukas Pavelka, Tainá M. Marques, Clarissa P. C. Gomes, Alexey Kolodkin, Patrick May, Łukasz Milanowski, Zbigniew K. Wszołek, Ryan J. Uitti, Peter Heutink, Jacobus J. van Hilten, David K. Simon, Shirley Eberly, Ignacio Álvarez, Lynne Krohn, Eric Yu, Kathryn Freeman, Uladzislau Rudakou, Jennifer A. Ruskey, Farnaz Asayesh, Manuel Menéndez‐González, Pau Pástor, Owen A. Ross, Rejko Krüger, Jean‐Christophe Corvol, Sulev Kõks, Pablo Mir, Rob M.A. de Bie, Hirotaka Iwaki, Ziv Gan‐Or

Bibliographic record

VenueMovement Disorders · 2024
Typearticle
Languageen
FieldMedicine
TopicParkinson's Disease Mechanisms and Treatments
Canadian institutionsMcGill UniversityMontreal Neurological Institute and Hospital
FundersNational Institute of Neurological Disorders and StrokeNational Institute on AgingNational Institutes of HealthIdorsia PharmaceuticalsCanada First Research Excellence FundConsortium canadien en neurodégénérescence associée au vieillissementWellcome TrustMcGill UniversityMichael J. Fox Foundation for Parkinson's Research
KeywordsDyskinesiaLevodopaOdds ratioLRRK2Parkinson's diseaseInternal medicineQuartileHazard ratioMedicineDopaminergicGenome-wide association studyConfidence intervalOncologySingle-nucleotide polymorphismDiseaseGenotypeDopamineGeneticsBiologyGene

Abstract

fetched live from OpenAlex

Abstract Background Levodopa‐induced dyskinesia (LID) is a common adverse effect of levodopa, one of the main therapeutics used to treat the motor symptoms of Parkinson's disease (PD). Previous evidence suggests a connection between LID and a disruption of the dopaminergic system as well as genes implicated in PD, including GBA1 and LRRK2 . Objectives Our goal was to investigate the effects of genetic variants on risk and time to LID. Methods We performed a genome‐wide association study (GWAS) and analyses focused on GBA1 and LRRK2 variants. We also calculated polygenic risk scores (PRS) including risk variants for PD and variants in genes involved in the dopaminergic transmission pathway. To test the influence of genetics on LID risk we used logistic regression, and to examine its impact on time to LID we performed Cox regression including 1612 PD patients with and 3175 without LID. Results We found that GBA1 variants were associated with LID risk (odds ratio [OR] = 1.65; 95% confidence interval [CI], 1.21–2.26; P = 0.0017) and LRRK2 variants with reduced time to LID onset (hazard ratio [HR] = 1.42; 95% CI, 1.09–1.84; P = 0.0098). The fourth quartile of the PD PRS was associated with increased LID risk (OR fourth_quartile = 1.27; 95% CI, 1.03–1.56; P = 0.0210). The third and fourth dopamine pathway PRS quartiles were associated with a reduced time to development of LID (HR third_quartile = 1.38; 95% CI, 1.07–1.79; P = 0.0128; HR fourth_quartile = 1.38; 95% CI = 1.06–1.78; P = 0.0147). Conclusions This study suggests that variants implicated in PD and in the dopaminergic transmission pathway play a role in the risk/time to develop LID. Further studies will be necessary to examine how these findings can inform clinical care. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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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 categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.115
Threshold uncertainty score1.000

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 head0.011
GPT teacher head0.228
Teacher spread0.217 · 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.

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

Citations11
Published2024
Admission routes2
Has abstractyes

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