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Record W4396707161 · doi:10.1038/s41531-024-00704-3

Genetic variation and pesticide exposure influence blood DNA methylation signatures in females with early-stage Parkinson’s disease

2024· article· en· W4396707161 on OpenAlexafffund
Samantha L. Schaffner, William Casazza, Fanny Artaud, Chaini Konwar, Sarah M. Merrill, Cloé Domenighetti, Julia M. Schulze‐Hentrich, Suzanne Lesage, Alexis Brice, Jean‐Christophe Corvol, Sara Mostafavi, Juanita Dennis, Alexis Elbaz, Michael S. Kobor

Bibliographic record

Venuenpj Parkinson s Disease · 2024
Typearticle
Languageen
FieldMedicine
TopicParkinson's Disease Mechanisms and Treatments
Canadian institutionsCanada's Michael Smith Genome Sciences CentreMichael Smith Health Research BCBC Children's HospitalUniversity of British Columbia
FundersSorbonne UniversitéAgence Nationale de Sécurité du Médicament et des Produits de SantéCanadian HIV Trials Network, Canadian Institutes of Health ResearchBundesministerium für Bildung und ForschungDartmouth CollegeAgence Nationale de la RechercheGovernment of CanadaCanadian Institutes of Health ResearchEU Joint Programme – Neurodegenerative Disease Research
KeywordsParkinson's diseaseDiseaseDNA methylationStage (stratigraphy)BiologyGenetic variationGeneticsMedicinePhysiologyBioinformaticsGeneInternal medicine

Abstract

fetched live from OpenAlex

Abstract Although sex, genetics, and exposures can individually influence risk for sporadic Parkinson’s disease (PD), the joint contributions of these factors to the epigenetic etiology of PD have not been comprehensively assessed. Here, we profiled sex-stratified genome-wide blood DNAm patterns, SNP genotype, and pesticide exposure in agricultural workers (71 early-stage PD cases, 147 controls) and explored replication in three independent samples of varying demographics ( n = 218, 222, and 872). Using a region-based approach, we found more associations of blood DNAm with PD in females (69 regions) than in males (2 regions, Δβ adj | ≥0.03, p adj ≤ 0.05). For 48 regions in females, models including genotype or genotype and pesticide exposure substantially improved in explaining interindividual variation in DNAm ( p adj ≤ 0.05), and accounting for these variables decreased the estimated effect of PD on DNAm. The results suggested that genotype, and to a lesser degree, genotype-exposure interactions contributed to variation in PD-associated DNAm. Our findings should be further explored in larger study populations and in experimental systems, preferably with precise measures of exposure.

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 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 score0.018
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
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 head0.013
GPT teacher head0.257
Teacher spread0.244 · 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

Citations16
Published2024
Admission routes2
Has abstractyes

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