Evidence map›Paper›PMID 36658437›Full record

SynthesisNature genetics2023

Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism.

Jonas Ghouse, Vinicius Tragante, Gustav Ahlberg, Søren A Rand, Jakob B Jespersen, Eva Birgitte Leinøe, Christoffer Rasmus Vissing, Linea Trudsø, Ingileif Jonsdottir, Karina Banasik and 26 more

Abstract readMeta-Analysis
PubMed Publisher
In one paragraph

Synthesis in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
89citing papers in PubMed, 7 pooled it
47.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

89 citing papers in PubMed, 7 syntheses or guidelines pooled it, 151 citations in OpenAlex.

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  15. Association between intrinsic capacity, genetic predisposition, and risk of venous thromboembolism.Journal of vascular surgery. Venous and lymphatic disorders · 2026
    Article
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  18. Polygenic risk scores for cardiovascular disease: clinical utility and limitations.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2026
    Review
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29 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

36 authors at 10 institutions in 3 countries.

Jonas Ghouse *Laboratory for Molecular Cardiology, Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. jonas.ghouse@sund.ku.dk.ORCID http://orcid.org/0000-0002-9634-5964
Vinicius Tragante *deCODE genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-8223-8957
Gustav AhlbergLaboratory for Molecular Cardiology, Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Søren A RandLaboratory for Molecular Cardiology, Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Jakob B JespersenLaboratory for Molecular Cardiology, Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Eva Birgitte LeinøeDepartment of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Christoffer Rasmus VissingDepartment of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Linea TrudsøLaboratory for Molecular Cardiology, Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-3857-438X
Ingileif JonsdottirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-8339-150X
Karina BanasikTranslational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-2489-2499
Søren BrunakTranslational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-0316-5866
Sisse R OstrowskiDepartment of Clinical Immunology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.ORCID http://orcid.org/0000-0001-5288-3851
Ole B PedersenDepartment of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Erik SørensenDepartment of Clinical Immunology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Christian ErikstrupDepartment of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.
Mie Topholm BruunDepartment of Clinical Immunology, Odense University Hospital, Odense, Denmark.ORCID http://orcid.org/0000-0002-8819-5388
Kaspar Rene NielsenDepartment of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark.
Lars KøberDepartment of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Alex H ChristensenDepartment of Cardiology, Copenhagen University Hospital, Herlev-Gentofte Hospital, Herlev, Denmark.
Kasper IversenDepartment of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
David JonesPrecision Genomics, Intermountain Healthcare, Saint George, UT, USA.
Kirk U KnowltonIntermountain Medical Center, Intermountain Heart Institute, Salt Lake City, UT, USA.
Lincoln NadauldPrecision Genomics, Intermountain Healthcare, Saint George, UT, USA.
Gisli H HalldorssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-7067-9862
Egil FerkingstaddeCODE genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-8090-7988
Isleifur OlafssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Solveig GretarsdottirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Pall T OnundarsonFaculty of Medicine, University of Iceland, Reykjavik, Iceland.
Patrick SulemdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-7123-6123
Unnur ThorsteinsdottirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Gudmundur ThorgeirssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Daniel F GudbjartssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Kari StefanssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Hilma HolmdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-9517-6636
Morten Salling OlesenLaboratory for Molecular Cardiology, Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.ORCID http://orcid.org/0000-0001-9477-5322
Henning BundgaardDepartment of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
University of Copenhagen · DKdeCODE Genetics (Iceland) · ISCopenhagen University Hospital · DKIntermountain Healthcare · USAalborg University Hospital · DKAarhus University Hospital · DKGentofte Hospital · DKOdense University Hospital · DKUniversity of Iceland · ISUniversity of Utah · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a genome-wide association study of venous thromboembolism (VTE) incorporating 81,190 cases and 1,419,671 controls sampled from six cohorts. We identify 93 risk loci, of which 62 are previously unreported. Many of the identified risk loci are at genes encoding proteins with functions converging on the coagulation cascade or platelet function. A VTE polygenic risk score (PRS) enabled effective identification of both high- and low-risk individuals. Individuals within the top 0.1% of PRS distribution had a VTE risk similar to homozygous or compound heterozygous carriers of the variants G20210A (c.*97 G > A) in F2 and p.R534Q in F5. We also document that F2 and F5 mutation carriers in the bottom 10% of the PRS distribution had a risk similar to that of the general population. We further show that PRS improved individual risk prediction beyond that of genetic and clinical risk factors. We investigated the extent to which venous and arterial thrombosis share clinical risk factors using Mendelian randomization, finding that some risk factors for arterial thrombosis were directionally concordant with VTE risk (for example, body mass index and smoking) whereas others were discordant (for example, systolic blood pressure and triglyceride levels).

Indexed as

ThrombosisVenous ThromboembolismGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansRisk Factors

Identifiers

PMID36658437
OpenAlexW4317517293

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.