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Record W4389430699 · doi:10.1101/2023.12.05.23299567

Genetic assessment of efficacy and safety profiles of coagulation cascade proteins identifies Factors II and XI as actionable anticoagulant targets

2023· preprint· en· W4389430699 on OpenAlexafffund
Éloi Gagnon, Arnaud Girard, Jérôme Bourgault, Erik Abner, Dipender Gill, Sébastien Thériault, Marie‐Claude Vohl, André Tchernof, Tõnu Esko, Patrick Mathieu, Benoît J. Arsenault

Bibliographic record

VenuemedRxiv · 2023
Typepreprint
Languageen
FieldMedicine
TopicBlood Coagulation and Thrombosis Mechanisms
Canadian institutionsUniversité LavalInstitut universitaire de cardiologie et de pneumologie de Québec
FundersFonds de Recherche du Québec - Santé
KeywordsMedicineMendelian randomizationBiobankStroke (engine)Internal medicineOdds ratioAnticoagulantRisk assessmentBioinformaticsGenetic variantsGenotypeGeneGeneticsBiology

Abstract

fetched live from OpenAlex

ABSTRACT Background Anticoagulants are routinely used by millions of patients worldwide to prevent blood clots. Yet, problems with anticoagulant therapy remain, including a persistent and cumulative bleeding risk in patients undergoing prolonged anticoagulation. New safer anticoagulant targets are needed. Methods We performed two-sample Mendelian randomization (MR) and genetic colocalization to prioritize anticoagulant targets with the strongest efficacy (venous thromboembolism [VTE] prevention) and safety (low bleeding risk) profiles. We leveraged three large-scale plasma protein datasets (deCODE, n=35,559; Fenland n = 10,708; ARIC n= 7,213) and one liver gene expression dataset (n =246) to evaluate evidence for a causal effect of 26 coagulation cascade plasma proteins on VTE from a new genome-wide association meta-analysis of 44,232 VTE cases and 847,152 controls (from the UK Biobank, FinnGen and Estonian Biobank), stroke subtypes (from UK Biobank and International Stroke Genetics consortium 73,652 cases and 1,234,808 controls), bleeding outcomes (FinnGen, n=309,154) and over one million parental lifespans (UK Biobank and LifeGen consortium). Results Genetically predicted reductions in F2 blood levels were associated with lower VTE risk (OR [odds ratio] per 1 standard deviation [SD] lower F2=0.44, 95% CI=0.38-0.51, p=2.6E-28) and cardioembolic stroke risk (OR = 0.55, 95% CI=0.39-0.76, p=4.2e-04) but not with bleeding (OR = 1.13, 95% CI=0.93-1.36, p=2.2e-01). Genetically predicted F11 reduction were associated with lower risk of VTE (OR = 0.61, 95% CI=0.58-0.64, p=4.1e-85) and cardioembolic stroke (OR = 0.77, 95% CI=0.69-0.86, p=4.1e-06), but not with bleeding (OR = 1.01, 95% CI=0.95-1.08, p=7.5e-01) (Figure 3). These MR associations were concordant across the three blood protein datasets and the hepatic gene expression dataset as well as three different MR and colocalization analyses. Conclusion These results provide strong genetic evidence that F2 and F11 may represent safe and efficacious therapeutic targets to prevent VTE and cardioembolic strokes without substantially increasing bleeding risk.

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)0.005
metaresearch head score (Gemma)0.010
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.008
Threshold uncertainty score0.024

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0050.010
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.004
Bibliometrics0.0010.002
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.000

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 head0.045
GPT teacher head0.326
Teacher spread0.280 · 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.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
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
Published2023
Admission routes2
Has abstractyes

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