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Record W2935880242 · doi:10.1101/604033

The Parkinson’s Disease Mendelian Randomization Research Portal

2019· preprint· en· W2935880242 on OpenAlexaff
Alastair J. Noyce, Sara Bandrés‐Ciga, Jonggeol Kim, Karl Heilbron, Demis A. Kia, Gibran Hemani, Angli Xue, Debbie A. Lawlor, George Davey Smith, Raquel Durán, Ziv Gan‐Or, Cornelis Blauwendraat, J. Raphael Gibbs, David A. Hinds, Jian Yang, Peter M. Visscher, Jack Cuzick, Huw R. Morris, John Hardy, Nicholas Wood, Mike A. Nalls, Andrew Singleton

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2019
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill UniversityMontreal Neurological Institute and Hospital
FundersNational Institute on AgingUniversity College LondonUniversity of BristolNational Institute for Health and Care ResearchNational Institutes of HealthMedical Research CouncilBarts Charity
KeywordsMendelian randomizationCausality (physics)Observational studyGenome-wide association studyMedicineDiseaseFalse discovery rateGenetic associationSingle-nucleotide polymorphismInternal medicineBiologyGeneticsGenetic variantsGenotypeGene

Abstract

fetched live from OpenAlex

ABSTRACT Background Mendelian randomization (MR) is a method for exploring observational associations to find evidence of causality. Objective To apply MR between multiple risk factors/phenotypic traits (exposures) and Parkinson’s disease (PD) in a large, unbiased manner, and to create a public resource for research. Methods We used two-sample MR in which the summary statistics relating to SNPs from genome wide association studies (GWASes) of 5,839 exposures curated on MR Base were used to assess causal relationships with PD. We selected the highest quality exposure GWASes for this report (n=401). For the disease outcome, summary statistics from the largest published PD GWAS were used. For each exposure, the causal effect on PD was assessed using the inverse variance weighted (IVW) method, followed by a range of sensitivity analyses. We used a false discovery rate (FDR) corrected p-value of <0.05 from the IVW analysis to prioritize traits of interest. Results We observed evidence for causal associations between twelve exposures and risk of PD. Of these, nine were causal effects related to increasing adiposity and decreasing risk of PD. The remaining top exposures that affected PD risk were tea drinking, time spent watching television and forced vital capacity, but the latter two appeared to be biased by violations of underlying MR assumptions. Discussion We present a new platform which offers MR analyses for a total of 5,839 GWASes versus the largest PD GWASes available ( https://pdgenetics.shinyapps.io/pdgenetics/ ). Alongside, we report further evidence to support a causal role for adiposity on lowering the risk of 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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.049
metaresearch head score (Gemma)0.171
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesInsufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Software · Consensus signal: none
Teacher disagreement score0.310
Threshold uncertainty score0.984

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0490.171
Meta-epidemiology (narrow)0.0020.003
Meta-epidemiology (broad)0.0050.002
Bibliometrics0.0080.008
Science and technology studies0.0010.001
Scholarly communication0.0060.004
Open science0.0050.004
Research integrity0.0040.003
Insufficient payload (model declined to judge)0.3100.115

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 head0.021
GPT teacher head0.275
Teacher spread0.254 · 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 source (direct Gemma or distilled Codex), not a consensus.

Study designNot applicable
Domainnot available
GenreSoftware

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
Published2019
Admission routes1
Has abstractyes

Explore more

Same venuebioRxiv (Cold Spring Harbor Laboratory)→Same topicGenetic Associations and Epidemiology→French-language works237,207→