Evidence map›Paper›PMID 36154123›Full record

ArticleCirculation2022

Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.

Florian Thibord, Derek Klarin, Jennifer A Brody, Ming-Huei Chen, Michael G Levin, Daniel I Chasman, Ellen L Goode, Kristian Hveem, Maris Teder-Laving, Angel Martinez-Perez and 78 more

Open access · bronzeAbstract read
In one paragraph

Article in Circulation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
55citing papers in PubMed, 4 pooled it
16.8field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

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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

55 citing papers in PubMed, 4 syntheses or guidelines pooled it, 100 citations in OpenAlex.

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  6. Are There Causal Associations Between Obsessive-Compulsive Disorder and Cardiometabolic Phenotypes? A Genetic Correlation and Bi-Directional Mendelian Randomization Study.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026
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  17. RResearch and practice in thrombosis and haemostasis · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

88 authors at 20 institutions in 18 countries.

Florian Thibord *Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, Framingham, MA (F.T., M.-H.C., A.D.J.).ORCID 0000-0003-2229-8322
Derek Klarin *Division of Vascular Surgery, Stanford University School of Medicine, CA (D. Klarin).ORCID 0000-0002-4636-5780
Jennifer A BrodyCardiovascular Health Research Unit, Department of Medicine (J.A.B., K.L.W., B.M.P.), University of Washington, Seattle.
Ming-Huei ChenPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, Framingham, MA (F.T., M.-H.C., A.D.J.).ORCID 0000-0003-3551-8726
Michael G LevinDepartments of Medicine (M.G.L., D.J.R), Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0002-9937-9932
Daniel I ChasmanDivision of Preventive Medicine (D.I.C., F.G., P.M.R.), Brigham and Women's Hospital, Boston, MA.ORCID 0000-0003-3357-0862
Ellen L GoodeDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN (E.L.G., M.D.A., S.M.A.).
Kristian HveemK.G. Jebsen Centre for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, Trondheim (K. Hveem, T.H.N., B.B., A.H.S.).
Maris Teder-LavingInstitute of Genomics, University of Tartu, Estonia (M.T.-L.).
Angel Martinez-PerezGenomics of Complex Disease Unit, Institut d'Investigació Biomèdica Sant Pau, Barcelona, Spain (A.M.-P., J.M.S., J.C.S., M.S.-L.).ORCID 0000-0002-5934-1454
Dylan AïssiBordeaux Population Health Research Center, University of Bordeaux, France (D.A., M.G., D.-A.T.).ORCID 0000-0002-5858-6468
Delphine Daian-BacqCentre National de Recherche en Génomique Humaine, CEA, Université Paris-Saclay, Evry, France (D.D.-B., A.B., R.O., J.-F.D.).
Kaoru ItoLaboratory for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan (K.I., S.K.).ORCID 0000-0003-1843-773X
Pradeep NatarajanDepartment of Medicine (P.N., T.G., K.R.C., C.J.O.), Boston, MA.ORCID 0000-0001-8402-7435
Pamela L LutseyDivision of Epidemiology and Community Health, School of Public Health (P.L.L., J.S.P., W.T.), University of Minnesota, Minneapolis.ORCID 0000-0002-1572-1340
Girish N NadkarniCharles Bronfman Institute for Personalized Medicine (G.N.K., R.D., R.J.F.L., H.M.T.V.), Icahn School of Medicine at Mount Sinai, New York, NY.ORCID 0000-0001-6319-4314
Paul S de VriesHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston (P.S.d.V.).ORCID 0000-0003-0964-0111
Gabriel Cuellar-Partida23andMe, Inc, Sunnyvale, CA (G.C.-P., X.W.).
Brooke N WolfordDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor (B.N.W., C.J.W.).ORCID 0000-0003-3153-1552
Jack W PatteeDivision of Biostatistics (J.W.P.), University of Minnesota, Minneapolis.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA (C. Kooperberg, J.H., A.P.R.).ORCID 0000-0002-7986-8560
Sigrid K BraekkanThrombosis Research Center, UiT-Arctic University of Norway, Tromsø (S.K.B., K. Hindberg, V.M.M., J.-B.H.).ORCID 0000-0002-9678-9696
Noemie SautHematology Laboratory, La Timone University Hospital of Marseille, France (N.S., P.S., P.-E.M.).ORCID 0000-0002-8365-7731
Corriene SeptDepartment of Epidemiology, Harvard T.H. Chan Harvard School of Public Health, Boston, MA (C.S., C.T., P.K.).
Marine GermainBordeaux Population Health Research Center, University of Bordeaux, France (D.A., M.G., D.-A.T.).ORCID 0000-0002-8489-8916
Renae L JudySurgery (R.L.J., S.M.D), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Kerri L WigginsCardiovascular Health Research Unit, Department of Medicine (J.A.B., K.L.W., B.M.P.), University of Washington, Seattle.ORCID 0000-0003-2749-1279
Darae KoFramingham Heart Study, Boston University, Framingham, MA (F.T., M.-H.C., D. Ko, A.D.J.).ORCID 0000-0002-1174-7535
Christopher J O'DonnellDepartment of Medicine (P.N., T.G., K.R.C., C.J.O.), Boston, MA.ORCID 0000-0002-2667-8624
Kent D TaylorInstitute for Translational Genomics and Population Sciences, Lundquist Institute for Biomedical Innovation, Torrance, CA (K.D.T.).ORCID 0000-0002-2756-4370
Franco GiulianiniDivision of Preventive Medicine (D.I.C., F.G., P.M.R.), Brigham and Women's Hospital, Boston, MA.
Mariza De AndradeDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN (E.L.G., M.D.A., S.M.A.).ORCID 0000-0003-2329-2686
Therese H NøstK.G. Jebsen Centre for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, Trondheim (K. Hveem, T.H.N., B.B., A.H.S.).ORCID 0000-0001-6805-3094
Anne BolandCentre National de Recherche en Génomique Humaine, CEA, Université Paris-Saclay, Evry, France (D.D.-B., A.B., R.O., J.-F.D.).ORCID 0000-0001-8789-5676
Jean-Philippe EmpanaIntegrative Epidemiology of Cardiovascular Diseases, Université Paris Cité, Paris Cardiovascular Research Center, France (J.-P.E.).ORCID 0000-0002-1469-7772
Satoshi KoyamaLaboratory for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan (K.I., S.K.).
Thomas GillilandDepartment of Medicine (P.N., T.G., K.R.C., C.J.O.), Boston, MA.ORCID 0000-0002-2872-9608
Ron DoCharles Bronfman Institute for Personalized Medicine (G.N.K., R.D., R.J.F.L., H.M.T.V.), Icahn School of Medicine at Mount Sinai, New York, NY.ORCID 0000-0002-3144-3627
Jennifer E HuffmanMAVERIC (J.E.H.), Veterans Affairs Boston Healthcare System, MA.
Xin Wang23andMe, Inc, Sunnyvale, CA (G.C.-P., X.W.).ORCID 0000-0001-7242-357X
Wei ZhouAnalytic and Translational Genetics Unit, Department of Medicine (W.Z.), Massachusetts General Hospital, Boston.
Jose Manuel SoriaGenomics of Complex Disease Unit, Institut d'Investigació Biomèdica Sant Pau, Barcelona, Spain (A.M.-P., J.M.S., J.C.S., M.S.-L.).ORCID 0000-0002-6226-4293
Juan Carlos SoutoGenomics of Complex Disease Unit, Institut d'Investigació Biomèdica Sant Pau, Barcelona, Spain (A.M.-P., J.M.S., J.C.S., M.S.-L.).ORCID 0000-0003-2092-5142
Nathan PankratzDepartment of Laboratory Medicine and Pathology (N.P.), University of Minnesota, Minneapolis.ORCID 0000-0001-5958-693X
Jeffery HaesslerDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA (C. Kooperberg, J.H., A.P.R.).
Kristian HindbergThrombosis Research Center, UiT-Arctic University of Norway, Tromsø (S.K.B., K. Hindberg, V.M.M., J.-B.H.).
Frits R RosendaalClinical Epidemiology, Leiden University Medical Center, Netherlands (R.L.-G., F.R.R., A.v.H.V.).ORCID 0000-0003-2558-7496
Constance TurmanDepartment of Epidemiology, Harvard T.H. Chan Harvard School of Public Health, Boston, MA (C.S., C.T., P.K.).ORCID 0000-0002-7790-8311
Robert OlasoCentre National de Recherche en Génomique Humaine, CEA, Université Paris-Saclay, Evry, France (D.D.-B., A.B., R.O., J.-F.D.).ORCID 0000-0001-7631-9657
Rachel L KemberPsychiatry (R.L.K.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Traci M BartzCardiovascular Health Research Unit, Departments of Biostatistics and Medicine (T.M.B.), University of Washington, Seattle.ORCID 0000-0003-3403-8763
Julie A LynchEpidemiology, University of Utah, Salt Lake City (J.A.L.).ORCID 0000-0003-0108-2127
Susan R HeckbertDepartment of Epidemiology (S.R.H., A.P.R., B.M.P., N.L.S.), University of Washington, Seattle.ORCID 0000-0002-7100-512X
Sebastian M ArmasuDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN (E.L.G., M.D.A., S.M.A.).
Ben BrumptonK.G. Jebsen Centre for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, Trondheim (K. Hveem, T.H.N., B.B., A.H.S.).ORCID 0000-0002-3058-1059
David M SmadjaHematology Department and Biosurgical Research Laboratory (Carpentier Foundation), European Georges Pompidou Hospital, Assistance Publique Hôpitaux de Paris, France (D.M.S.).ORCID 0000-0001-7731-9202
Xavier JouvenIntegrative Epidemiology of Cardiovascular Diseases (X.J.), Université Paris Descartes, Sorbonne Paris Cité, France.
Issei KomuroDepartment of Cardiovascular Medicine, University of Tokyo, Japan (I.K.).ORCID 0000-0002-0714-7182
Katharine R ClaphamDivision of Pulmonary and Critical Care Medicine (K.R.C.), Brigham and Women's Hospital, Boston, MA.ORCID 0000-0003-3659-4755
Ruth J F LoosCharles Bronfman Institute for Personalized Medicine (G.N.K., R.D., R.J.F.L., H.M.T.V.), Icahn School of Medicine at Mount Sinai, New York, NY.ORCID 0000-0002-8532-5087
Cristen J WillerDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor (B.N.W., C.J.W.).ORCID 0000-0001-5645-4966
Maria Sabater-LlealGenomics of Complex Disease Unit, Institut d'Investigació Biomèdica Sant Pau, Barcelona, Spain (A.M.-P., J.M.S., J.C.S., M.S.-L.).ORCID 0000-0002-0128-379X
James S PankowDivision of Epidemiology and Community Health, School of Public Health (P.L.L., J.S.P., W.T.), University of Minnesota, Minneapolis.ORCID 0000-0001-7076-483X
Alexander P ReinerDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA (C. Kooperberg, J.H., A.P.R.).ORCID 0000-0002-1427-4470
Vania M MorelliThrombosis Research Center, UiT-Arctic University of Norway, Tromsø (S.K.B., K. Hindberg, V.M.M., J.-B.H.).
Paul M RidkerDivision of Preventive Medicine (D.I.C., F.G., P.M.R.), Brigham and Women's Hospital, Boston, MA.ORCID 0000-0003-1249-4522
Astrid van Hylckama VliegClinical Epidemiology, Leiden University Medical Center, Netherlands (R.L.-G., F.R.R., A.v.H.V.).
Jean-François DeleuzeCentre National de Recherche en Génomique Humaine, CEA, Université Paris-Saclay, Evry, France (D.D.-B., A.B., R.O., J.-F.D.).
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan Harvard School of Public Health, Boston, MA (C.S., C.T., P.K.).
Daniel J RaderDepartments of Medicine (M.G.L., D.J.R), Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0002-9245-9876
Global Biobank Meta-Analysis Initiative; Estonian Biobank Research Team; 23andMe Research Team; Biobank Japan; CHARGE Hemostasis Working Group
Kyung Min LeeHUNT Research Center, Department of Public Health and Nursing, Norwegian University of Science and Technology, Levanger (K. Hveem).ORCID 0000-0001-8995-0448
Bruce M PsatyCardiovascular Health Research Unit, Department of Medicine (J.A.B., K.L.W., B.M.P.), University of Washington, Seattle.ORCID 0000-0002-7278-2190
Anne Heidi SkogholtK.G. Jebsen Centre for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, Trondheim (K. Hveem, T.H.N., B.B., A.H.S.).
Joseph EmmerichDepartment of Vascular Medicine, Paris Saint-Joseph Hospital Group (J.E.), Université de Paris, France.
Pierre SuchonHematology Laboratory, La Timone University Hospital of Marseille, France (N.S., P.S., P.-E.M.).
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville (S.S.R.).ORCID 0000-0003-3872-7793
Ha My T VyCharles Bronfman Institute for Personalized Medicine (G.N.K., R.D., R.J.F.L., H.M.T.V.), Icahn School of Medicine at Mount Sinai, New York, NY.ORCID 0000-0002-5117-3740
Weihong TangDivision of Epidemiology and Community Health, School of Public Health (P.L.L., J.S.P., W.T.), University of Minnesota, Minneapolis.ORCID 0000-0003-1200-0270
Rebecca D JacksonCollege of Medicine, Ohio State University, Columbus (R.D.J.).
John-Bjarne HansenThrombosis Research Center, UiT-Arctic University of Norway, Tromsø (S.K.B., K. Hindberg, V.M.M., J.-B.H.).
Pierre-Emmanuel MorangeHematology Laboratory, La Timone University Hospital of Marseille, France (N.S., P.S., P.-E.M.).
Christopher KabrhelEmergency Medicine (C. Kabrhel), Boston, MA.
David-Alexandre Trégouët *Bordeaux Population Health Research Center, University of Bordeaux, France (D.A., M.G., D.-A.T.).
Scott M Damrauer *Surgery (R.L.J., S.M.D), Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0001-8009-1632
Andrew D Johnson *Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, Framingham, MA (F.T., M.-H.C., A.D.J.).ORCID 0000-0001-6369-5178
Nicholas L Smith *Department of Epidemiology (S.R.H., A.P.R., B.M.P., N.L.S.), University of Washington, Seattle.ORCID 0000-0003-3483-353X
University of Washington · USNorwegian University of Science and Technology · NOUniversity of Minnesota · USBroad Institute · USCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRIcahn School of Medicine at Mount Sinai · USBrigham and Women's Hospital · USCape Town HVTN Immunology Laboratory / Hutchinson Centre Research Institute of South Africa · ZAFramingham Heart Study · USHarvard University · USLeiden University Medical Center · NLMayo Clinic in Florida · USUniversité de Bordeaux · FRUniversity Hospital of North Norway · NOUniversity of Pennsylvania · US23andMe (United States) · USBoston University · USCardiovascular Research Center · BRInstitut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement · FRUniversity of Michigan · US

Funding

University of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4M
Epidemiology of Venous Thrombosis & Pulmonary EmbolismR01HL059367 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI TANG, WEIHONG · 1998 to 2024
$11.8M
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5M
Using genetics to discover mechanisms of myocardial infarctionR01HL109946 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI YUQING Eugene CHEN, Ida Liisa Surakka · 2011 to 2026
$8.9M
Multidisciplinary Training Program in Cardiovascular EpidemiologyT32HL125232 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI Matthew G. Nayor, Vanessa Xanthakis · 2016 to 2026
$5.0M
Epigenetics of Successful AgingR01HL131136 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2017 to 2020
$4.0M
Structural and Nucleotide Variation as Genomic Risks for Venous Thrombosis: TOPMED and INVENT CollaborationR01HL154385 · NHLBI · UNIVERSITY OF WASHINGTON · PI PANKRATZ, NATHAN D, SMITH, NICHOLAS L · 2020 to 2023
$3.0M
Population genomic variation, functional biology, and the risk of venous thrombosisR01HL134894 · NHLBI · UNIVERSITY OF WASHINGTON · PI LOWENSTEIN, CHARLES J, SMITH, NICHOLAS L · 2017 to 2020
$2.9M
COVID and Translational Science supercomputer (CATS)S10OD030463 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2021 to 2021
$2.0M
Big Omics Data Engine 2 SupercomputerS10OD026880 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2019 to 2019
$2.0M
Mentoring and Research in Patient-Oriented Cardiovascular PharmacoepidemiologyK24HL159246 · NHLBI · UNIVERSITY OF MINNESOTA · PI PAMELA L. Lutsey · 2021 to 2026
$644k
Precision Cardio-Metabolic Phenotyping for Genetic Discovery and Risk PredictionIK2CX001780 · VA · PHILADELPHIA VA MEDICAL CENTER · PI DAMRAUER, SCOTT MICHAEL · 2018 to 2023
–
CSRD VA IK2 CX001780NHGRI NIH HHS T32 HG000040NHLBI NIH HHS K24 HL159246NHLBI NIH HHS R01 HL059367NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL109946NHLBI NIH HHS R01 HL131136NHLBI NIH HHS R01 HL134894NHLBI NIH HHS R01 HL154385NHLBI NIH HHS T32 HL125232NIH HHS S10 OD026880NIH HHS S10 OD030463
6 · The paper itself

Abstract

backgroundVenous thromboembolism (VTE) is a life-threatening vascular event with environmental and genetic determinants. Recent VTE genome-wide association studies (GWAS) meta-analyses involved nearly 30 000 VTE cases and identified up to 40 genetic loci associated with VTE risk, including loci not previously suspected to play a role in hemostasis. The aim of our research was to expand discovery of new genetic loci associated with VTE by using cross-ancestry genomic resources.

methodsWe present new cross-ancestry meta-analyzed GWAS results involving up to 81 669 VTE cases from 30 studies, with replication of novel loci in independent populations and loci characterization through in silico genomic interrogations.

resultsIn our genetic discovery effort that included 55 330 participants with VTE (47 822 European, 6320 African, and 1188 Hispanic ancestry), we identified 48 novel associations, of which 34 were replicated after correction for multiple testing. In our combined discovery-replication analysis (81 669 VTE participants) and ancestry-stratified meta-analyses (European, African, and Hispanic), we identified another 44 novel associations, which are new candidate VTE-associated loci requiring replication. In total, across all GWAS meta-analyses, we identified 135 independent genomic loci significantly associated with VTE risk. A genetic risk score of the significantly associated loci in Europeans identified a 6-fold increase in risk for those in the top 1% of scores compared with those with average scores. We also identified 31 novel transcript associations in transcriptome-wide association studies and 8 novel candidate genes with protein quantitative-trait locus Mendelian randomization analyses. In silico interrogations of hemostasis and hematology traits and a large phenome-wide association analysis of the 135 GWAS loci provided insights to biological pathways contributing to VTE, with some loci contributing to VTE through well-characterized coagulation pathways and others providing new data on the role of hematology traits, particularly platelet function. Many of the replicated loci are outside of known or currently hypothesized pathways to thrombosis.

conclusionsOur cross-ancestry GWAS meta-analyses identified new loci associated with VTE. These findings highlight new pathways to thrombosis and provide novel molecules that may be useful in the development of improved antithrombosis treatments.

Indexed as

ThrombosisVenous ThromboembolismGenetic Predisposition to DiseaseGenome-Wide Association StudyGenomicsHumansPolymorphism, Single NucleotideQuantitative Trait Locigeneticsgenome-wide association studymeta-analysisvenous thromboembolismvenous thrombosis

Identifiers

PMID36154123
PMCPMC10152894
OpenAlexW4297266084

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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.