ArticleBlood2019
Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.
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Article in Blood, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 139 papers, 9 of them syntheses that pooled it.
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139citing papers in PubMed, 9 pooled it
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Who cites it
139 citing papers in PubMed, 9 syntheses or guidelines pooled it, 231 citations in OpenAlex.
- GP6 polymorphisms and venous thromboembolism: a Chinese case-control study with cross-population assessment.BMC cardiovascular disorders · 2026Pooled it
- Genome-wide investigation of exogenous female hormones, genetic variation, and venous thromboembolism risk.Journal of thrombosis and haemostasis : JTH · 2024Pooled it
- Polygenic risk of major depressive disorder as a risk factor for venous thromboembolism.Blood advances · 2023Pooled it
- The contribution of the sinusoidal endothelial cell receptors CLEC4M, stabilin-2, and SCARA5 to VWF-FVIII clearance in thrombosis and hemostasis.Journal of thrombosis and haemostasis : JTH · 2023Pooled it
- Blood pressure and risk of venous thromboembolism: a cohort analysis of 5.5 million UK adults and Mendelian randomization studies.Cardiovascular research · 2023Pooled it
- Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population.BMC medicine · 2023Pooled it
- Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism.Nature genetics · 2023Pooled it
- Pooled it
- The genetics of venous thromboembolism: a systematic review of thrombophilia families.Journal of thrombosis and thrombolysis · 2021Pooled it
- Real-world data on Factor V Leiden in Sweden: A nationwide family study.Journal of thrombosis and thrombolysis · 2026Article
- A sensitized model of thrombosis validates known multigenic relationships and suggests novel modifiers of hemostasis.bioRxiv : the preprint server for biology · 2026Article
- An endothelial RNA splicing atlas catalogs effects of IL-1β and identifies an alternative PROCR isoform with genetic links to pleiotropic vascular disease.American journal of human genetics · 2026Article
- Genetic risk assessment of pregnancy-associated venous thromboembolism: dual utility of maternal peripheral blood in NIPT and VTE evaluation.BMC pregnancy and childbirth · 2026Article
- Population-specific ABO haplotypes reveal distinct venous thromboembolism risk in East Asians: insights from a large-scale genetic study.The Lancet regional health. Western Pacific · 2026Article
- Genetic and clinical characterization of two families with severe venous thromboembolism due to nonsense mutations in the SERPINC1 gene.Thrombosis journal · 2025Article
- Development of a MassARRAY Genotyping Platform and Its Clinical Application for Venous Thromboembolism Risk Assessment in Thai Patients.Medical sciences (Basel, Switzerland) · 2025Article
- Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish.Blood advances · 2025Article
- A Self-Adapting Polygenic Risk Score Model Improves Risk Prediction of Venous Thromboembolism in Han Chinese Cohorts.Phenomics (Cham, Switzerland) · 2025Article
- Linear and non-linear proteome-wide association studies provide novel insight into venous thromboembolism.Nature communications · 2025Article
- Protein quantitative trait locus analysis in African American and non-Hispanic White individuals.Genome biology · 2025Article
79 more citing papers are in PubMed but not listed here.
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Authors and funding
59 authors at 20 institutions in 7 countries.
Sara LindströmDepartment of Epidemiology, University of Washington, Seattle, WA.
Lu WangDepartment of Environmental and Occupational Health Sciences, University of Washington, Seattle, WA.
Erin N SmithDepartment of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, CA.
William GordonDepartment of Epidemiology, University of Washington, Seattle, WA.
Astrid van Hylckama VliegDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.
Mariza de AndradeDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN.
Jennifer A BrodyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA.
Jack W PatteeDivision of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, MN.
Jeffrey HaesslerPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA.
Ben M BrumptonK.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Daniel I ChasmanDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA.
Pierre SuchonLaboratory of Haematology, La Timone Hospital, Marseille, France.
Ming-Huei ChenPopulation Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Framingham, MA.
Constance TurmanProgram in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA.
Marine GermainINSERM UMR_S 1219, Bordeaux Population Health Research Center, University of Bordeaux, Bordeaux, France.
Kerri L WigginsCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA.
James MacDonaldDepartment of Environmental and Occupational Health Sciences, University of Washington, Seattle, WA.
Sigrid K BraekkanK.G. Jebsen Thrombosis Research and Expertise Center, Department of Clinical Medicine, UiT-The Arctic University of Norway, Tromsø, Norway.
Sebastian M ArmasuDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN.
Nathan PankratzDepartment of Laboratory Medicine and Pathology, School of Medicine, University of Minnesota, Minneapolis, MN.
Rebecca D JacksonDivision of Endocrinology, Diabetes, and Metabolism, The Ohio State University, Columbus OH.
Jonas B NielsenDivision of Cardiology, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI.
Franco GiulianiniDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA.
Marja K PuurunenThe Framingham Heart Study, Framingham, MA.
Manal IbrahimLaboratory of Haematology, La Timone Hospital, Marseille, France.
Susan R HeckbertDepartment of Epidemiology, University of Washington, Seattle, WA.
Scott M DamrauerDepartment of Surgery, Corporal Michael Crescenz VA Medical Center, Philadelphia, PA.
Pradeep NatarajanBoston VA Healthcare System, Boston, MA.
Derek KlarinBoston VA Healthcare System, Boston, MA.
Million Veteran Program
Paul S de VriesHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX.
Maria Sabater-LlealUnit of Genomics of Complex Diseases, Institut de Recerca de l'Hospital de Sant Pau, IIB-Sant Pau, Barcelona, Spain.
Jennifer E HuffmanCenter for Population Genomics, MAVERIC, VA Boston Healthcare System, Boston, MA.
CHARGE Hemostasis Working Group
Theo K BammlerDepartment of Environmental and Occupational Health Sciences, University of Washington, Seattle, WA.
Kelly A FrazerDepartment of Pediatrics and Rady Children's Hospital, University of California San Diego, La Jolla, CA.
Bryan M McCauleyDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN.
Kent TaylorLos Angeles Biomedical Research Institute and Department of Pediatrics, Harbor-University of California Los Angeles Medical Center, Torrence CA.
James S PankowDivision of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, MN.
Alexander P ReinerDepartment of Epidemiology, University of Washington, Seattle, WA.
Maiken E GabrielsenK.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Jean-François DeleuzeCentre National de Recherche en Génomique Humaine, Direction de la Recherche Fondamentale, Le Commissariat à l'énergie atomique et aux énergies alternatives, Evry, France.
Chris J O'DonnellPopulation Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Framingham, MA.
Jihye KimProgram in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA.
Barbara McKnightPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA.
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA.
John-Bjarne HansenK.G. Jebsen Thrombosis Research and Expertise Center, Department of Clinical Medicine, UiT-The Arctic University of Norway, Tromsø, Norway.
Frits R RosendaalDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.
John A HeitDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN.
Bruce M PsatyKaiser Permanente Washington Health Research Institute, Kaiser Permanente Washington, Seattle, WA.
Weihong TangDivision of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, MN.
Charles KooperbergPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA.
Kristian HveemK.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Paul M RidkerDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA.
Pierre-Emmanuel MorangeLaboratory of Haematology, La Timone Hospital, Marseille, France.
Andrew D JohnsonPopulation Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Framingham, MA.
Christopher KabrhelCenter for Vascular Emergencies, Department of Emergency Medicine, Massachusetts General Hospital, Boston, MA.
David-Alexandre TrégouëtINSERM UMR_S 1219, Bordeaux Population Health Research Center, University of Bordeaux, Bordeaux, France.
Nicholas L SmithDepartment of Epidemiology, University of Washington, Seattle, WA.
University of Washington · USBrigham and Women's Hospital · USUniversity of Minnesota · USKaiser Permanente Washington Health Research Institute · USNational Institutes of Health · USUniversity Hospital of North Norway · NOInserm · FRKarolinska University Hospital · SELeiden University Medical Center · NLMayo Clinic in Florida · USUniversité de Bordeaux · FRUniversity of California, Los Angeles · USUniversity of California San Diego · USBroad Institute · USCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRFred Hutch Cancer Center · USHarvard University · USHôpital de la Timone · FRNorwegian University of Science and Technology · NOPhiladelphia VA Medical Center · US
Funding
Epidemiology of Venous Thrombosis & Pulmonary EmbolismR01HL059367 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI TANG, WEIHONG · 1998 to 2024
$11.8MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MRare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9MCHS research resources for the cardiovascular health of older adultsU01HL130114 · NHLBI · UNIVERSITY OF WASHINGTON · PI BURKE, GREGORY L, KRONMAL, RICHARD A · 2016 to 2019
$6.6MClonal hematopoiesis in humans: determinants of development and progressionR01HL148050 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BALLANTYNE, CHRISTIE MITCHELL, NATARAJAN, PRADEEP · 2019 to 2022
$5.9MRare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6MAnalysis of Whole Genome Sequence and Hemostasis PhenotypesR01HL139553 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI PAUL STEFAN DE VRIES, Alanna C Morrison · 2018 to 2026
$5.0MWomen's Health Study: Infrastructure support for continued cohort follow-upU01CA182913 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI BURING, JULIE E., LEE, I-MIN · 2019 to 2023
$4.0MGenetic and Environmental Risk Factors for Venous ThromboembolismR01HL116854 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI KABRHEL, CHRISTOPHER · 2013 to 2017
$3.4MPopulation genomic variation, functional biology, and the risk of venous thrombosisR01HL134894 · NHLBI · UNIVERSITY OF WASHINGTON · PI LOWENSTEIN, CHARLES J, SMITH, NICHOLAS L · 2017 to 2020
$2.9MModel system of oral contraceptive-induced VTE: integrating genomic, transcriptomic, and proteomic discovery with functional biologyR33HL141791 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI LOWENSTEIN, CHARLES J, SMITH, NICHOLAS L · 2020 to 2022
$2.0MModel system of oral contraceptive-induced VTE: integrating genomic, transcriptomic, and proteomic discovery with functional biologyR61HL141791 · NHLBI · UNIVERSITY OF ROCHESTER · PI LOWENSTEIN, CHARLES J, SMITH, NICHOLAS L · 2018 to 2019
$1.4MNCI NIH HHS U01 CA182913NHLBI NIH HHS R01 HL059367NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL116854NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL134894NHLBI NIH HHS R01 HL139553NHLBI NIH HHS R33 HL141791NHLBI NIH HHS R61 HL141791NHLBI NIH HHS U01 HL120393NHLBI NIH HHS U01 HL130114
Abstract
Venous thromboembolism (VTE) is a significant contributor to morbidity and mortality. To advance our understanding of the biology contributing to VTE, we conducted a genome-wide association study (GWAS) of VTE and a transcriptome-wide association study (TWAS) based on imputed gene expression from whole blood and liver. We meta-analyzed GWAS data from 18 studies for 30 234 VTE cases and 172 122 controls and assessed the association between 12 923 718 genetic variants and VTE. We generated variant prediction scores of gene expression from whole blood and liver tissue and assessed them for association with VTE. Mendelian randomization analyses were conducted for traits genetically associated with novel VTE loci. We identified 34 independent genetic signals for VTE risk from GWAS meta-analysis, of which 14 are newly reported associations. This included 11 newly associated genetic loci (C1orf198, PLEK, OSMR-AS1, NUGGC/SCARA5, GRK5, MPHOSPH9, ARID4A, PLCG2, SMG6, EIF5A, and STX10) of which 6 replicated, and 3 new independent signals in 3 known genes. Further, TWAS identified 5 additional genetic loci with imputed gene expression levels differing between cases and controls in whole blood (SH2B3, SPSB1, RP11-747H7.3, RP4-737E23.2) and in liver (ERAP1). At some GWAS loci, we found suggestive evidence that the VTE association signal for novel and previously known regions colocalized with expression quantitative trait locus signals. Mendelian randomization analyses suggested that blood traits may contribute to the underlying risk of VTE. To conclude, we identified 16 novel susceptibility loci for VTE; for some loci, the association signals are likely mediated through gene expression of nearby genes.
Indexed as
Genetic Predisposition to DiseaseGenome-Wide Association StudyHumansVenous Thromboembolism
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