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Record W4389753290 · doi:10.1016/j.jtha.2023.11.027

A multitrait genetic study of hemostatic factors and hemorrhagic transformation after stroke treatment

2023· article· en· W4389753290 on OpenAlexfundno aff
Cristina Gallego-Fábrega, Gerard Temprano‐Sagrera, Jara Cárcel‐Márquez, Elena Muiño, Natàlia Cullell, Miquel Lledós, Laia Llucià‐Carol, Jesús M. Martín‐Campos, Tomás Sobrino, José Castillo, Mónica Millán, Lucía Muñoz-Narbona, Elena López‐Cancio, Marc Ribó, José Álvarez‐Sabín, Jordi Jiménez‐Conde, Jaume Roquer, Sílvia Tur, Vı́ctor Obach, Juan F. Arenillas, Tomás Segura, Gemma Serrano‐Heras, Joan Martí‐Fábregas, Marimar Freijo-Guerrero, Francisco Moniche, Mar Castellanos, Alanna C. Morrison, Nicholas L. Smith, Paul S. de Vries, Israel Fernández‐Cadenas, Maria Sabater‐Lleal, Abbas Dehghan, Adam S. Heath, Alex P. Reiner, Andrew D. Johnson, Anne Richmond, Annette Peters, Astrid van Hylckama Vlieg, Barbara McKnight, Bruce M. Psaty, Caroline Hayward, Cavin Ward‐Caviness, Christopher J. O’Donnell, Daniel I. Chasman, David P. Strachan, David‐Alexandre Trégouët, Dennis O. Mook‐Kanamori, Dipender Gill, Florian Thibord, Folkert W. Asselbergs, Frank W.G. Leebeek, Frits R. Rosendaal, Gail Davies, Georg Homuth, Gerard Temprano, Harry Campbell, Herman A. Taylor, Jan Bressler, Jennifer E. Huffman, Jerome I. Rotter, Jie Yao, James F. Wilson, Joshua C. Bis, Julie Hahn, Karl C. Desch, Kerri L. Wiggins, Laia Díez-Ahijado, Laura M. Raffield, Lawrence F. Bielak, Lisa R. Yanek, Marcus E. Kleber, Martina Mueller, Maryam Kavousi, Massimo Mangino, Matthew P. Conomos, Melissa Liu, Michael R. Brown, Min-A Jhun, Ming‐Huei Chen, Moniek P.M. de Maat, Nathan Pankratz, Patricia A. Peyser, Paul Elliot, Peng Wei, Philipp S. Wild, Pierre‐Emmanuel Morange, Pim van der Harst, Qiong Yang, Riccardo E. Marioni, Ruifang Li, Scott M. Damrauer, Simon R. Cox, Stella Trompet, Stephan B. Felix, Uwe Völker, Weihong Tang, Wolfgang Köenig, J. Wouter Jukema, Xiuqing Guo

Bibliographic record

VenueJournal of Thrombosis and Haemostasis · 2023
Typearticle
Languageen
FieldMedicine
TopicBlood properties and coagulation
Canadian institutionsnot available
FundersNational Heart, Lung, and Blood InstituteHelmholtz Zentrum MünchenU.S. Department of Veterans AffairsMenzies Centre for Australian Studies, King's College London, University of LondonUniversiteit LeidenPerelman School of Medicine, University of PennsylvaniaEuropean Social FundSchool of Public Health, Imperial College LondonUniversity of Texas MD Anderson Cancer CenterInstituto de Salud Carlos IIIBiotechnology and Biological Sciences Research CouncilJohannes Gutenberg-Universität MainzErasmus Medisch CentrumInstitute of GeneticsAgència de Gestió d'Ajuts Universitaris i de RecercaUniversity of WashingtonDeutsches Zentrum für Herz-KreislaufforschungImperial College LondonUniversity of Texas Health Science Center at HoustonSchool of Public Health, University of MichiganEuropean Regional Development FundFederación Española de Enfermedades RarasNHLBI Division of Intramural ResearchUniversity of PennsylvaniaUniversity of MinnesotaLeids Universitair Medisch CentrumNational Institutes of HealthU.S. Department of Health and Human Services
KeywordsMendelian randomizationVon Willebrand factorOdds ratioMedicineInternal medicineFibrinogenPlasminogen activatorT-plasminogen activatorStroke (engine)GastroenterologyEndocrinologyBiologyGeneticsGenotypeGenePlatelet

Abstract

fetched live from OpenAlex

Background Thrombolytic recombinant tissue-plasminogen activator (r-tPA) treatment is the only pharmacological intervention available in the ischemic stroke acute phase. This treatment is associated with an increased risk of intracerebral hemorrhages, known as hemorrhagic transformations (HT), which worsen patient’s prognosis. Objectives To investigate the association between genetically-determined natural hemostatic factors’ levels, with increased risk of HT after r-tPA treatment. Patients/Methods Using genome-wide association studies data on risk of HT after r-tPA treatment, and from seven hemostatic factors (VII, VIII, von-Willebrand factor [VWF], XI, fibrinogen, plasminogen activator inhibitor-1 [PAI-1], and tissue plasminogen activator [tPA]), we performed local and global genetic correlations estimation multi-trait analyses and colocalization, and two-sample Mendelian Randomization (MR) analyses between hemostatic factors and HT. Results Local correlations identified a genomic region on chromosome 16 with shared covariance: fibrinogen-HT, p-value=2.45×10-11. Multi-trait analysis between fibrinogen-HT revealed 3 loci that simultaneously regulate circulating levels of fibrinogen and risk of HT: rs56026866 (PLXND1), p-value=8.80×10-10, rs1421067 (CHD9), p-value=1.81×10-14, and rs34780449, near ROBO1 gene, p-value=1.64×10-08. Multi-trait analysis between VWF-HT showed a novel common association regulating VWF and risk of HT after r-tPA at rs10942300 (ZNF366), p-value=1.81×10-14. MR analysis did not find significant causal associations, although a nominal association was observed for FXI-HT (inverse variance weighted estimate [SE], 0.07[-0.29–0.00]; OR 0.87[0.75–1.00], raw-p-value=0.05). Conclusions We identified 4 shared loci between hemostatic factors and HT after r-tPA treatment, suggesting common regulatory mechanisms between fibrinogen and VWF levels and HT. Further research to determine a possible mediating effect of fibrinogen on HT risk are needed.

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 score0.210
Threshold uncertainty score0.306

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 head0.072
GPT teacher head0.318
Teacher spread0.245 · 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

Citations7
Published2023
Admission routes1
Has abstractyes

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