Evidence map›Paper›PMID 30659681›Full record

SynthesisGenetic epidemiology2019

A large-scale exome array analysis of venous thromboembolism.

Sara Lindström, Jennifer A Brody, Constance Turman, Marine Germain, Traci M Bartz, Erin N Smith, Ming-Huei Chen, Marja Puurunen, Daniel Chasman, Jeffrey Hassler and 30 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Genetic epidemiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

14 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. RResearch and practice in thrombosis and haemostasis · 2025
    Review
  3. Article
  4. Venous thromboembolic disease genetics: from variants to function.Journal of thrombosis and haemostasis : JTH · 2024
    Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Of Pea Plants and Platelets.Circulation research · 2020
    Article
  13. Article
  14. Article
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

40 authors.

Sara LindströmDepartment of Epidemiology, University of Washington, Seattle, Washington.
Jennifer A BrodyDepartment of Medicine, University of Washington, Seattle, Washington.
Constance TurmanDepartment of Epidemiology, Harvard TH Chan School of Public Health, Boston, Massachusetts.
Marine GermainUniversity of Bordeaux, Inserm 1219, Bordeaux Population Health Research Center, Bordeaux, France.
Traci M BartzDepartment of Medicine, University of Washington, Seattle, Washington.
Erin N SmithDepartment of Pediatrics, Rady Children's Hospital, University of California, San Diego, California.
Ming-Huei ChenPopulation Sciences Branch, National Heart, Lung and Blood Institute's The Framingham Heart Study, Framingham, Massachusetts.
Marja PuurunenSchool of Medicine, Boston University, Boston, Massachusetts.
Daniel ChasmanDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Jeffrey HasslerDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Nathan PankratzDepartment of Laboratory Medicine and Pathology, School of Medicine, University of Minnesota, Minneapolis, Minnesota.
Saonli BasuDivision of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, Minnesota.ORCID 0000-0003-1200-4546
Weihua GuanDivision of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, Minnesota.
Beata GyorgyTeam Genomics & Pathophysiology of Cardiovascular Diseases, Sorbonne Universités, UPMC Univ. Paris 06, INSERM, UMR_S 1166, Paris, France.
Manal IbrahimLaboratory of Haematology, La Timone Hospital, Marseille, France.
Jean-Philippe EmpanaDepartment of Epidemiology, Université Paris Descartes, Sorbonne Paris Cité, INSERM UMR_S 970, Paris, France.
Robert OlasoCentre National de Recherche en Génomique Humaine (CNRGH), Direction de la Recherche Fondamentale, CEA, Institut de Biologie François Jacob, Evry, France.
Rebecca JacksonOhio State University, Columbus, Ohio.
Sigrid K BraekkanDivision of Internal Medicine, University Hospital of North Norway, Tromsø, Norway.
Barbara McKnightDepartment of Biostatistics, University of Washington, Seattle, Washington.
Jean-Francois DeleuzeCentre National de Recherche en Génomique Humaine (CNRGH), Direction de la Recherche Fondamentale, CEA, Institut de Biologie François Jacob, Evry, France.
Cristopher J O'DonnellDepartment of Cardiology, Boston Veteran's Administration Healthcare, Boston, Massachusetts.
Xavier JouvenDepartment of Epidemiology, Université Paris Descartes, Sorbonne Paris Cité, INSERM UMR_S 970, Paris, France.
Kelly A FrazerDepartment of Pediatrics, Rady Children's Hospital, University of California, San Diego, California.
Bruce M PsatyDepartment of Epidemiology, University of Washington, Seattle, Washington.
Kerri L WigginsDepartment of Medicine, University of Washington, Seattle, Washington.
Kent TaylorLA BioMed, Torrance, California.
Alexander P ReinerDepartment of Epidemiology, University of Washington, Seattle, Washington.
Susan R HeckbertDepartment of Epidemiology, University of Washington, Seattle, Washington.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Paul RidkerDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
John-Bjarne HansenDepartment of Clinical Medicine, UiT-The Arctic University of Norway, K.G. Jebsen Thrombosis Research and Expertise Center (TREC), Tromsø, Norway.
Weihong TangDivision of Epidemiology and Community Health, University of Minnesota, Minneapolis, Minnesota.
Andrew D JohnsonPopulation Sciences Branch, National Heart, Lung and Blood Institute's The Framingham Heart Study, Framingham, Massachusetts.
Pierre-Emmanuel MorangeLaboratory of Haematology, La Timone Hospital, Marseille, France.
David A TrégouëtUniversity of Bordeaux, Inserm 1219, Bordeaux Population Health Research Center, Bordeaux, France.
Peter KraftDepartment of Epidemiology, Harvard TH Chan School of Public Health, Boston, Massachusetts.
Nicholas L SmithDepartment of Epidemiology, University of Washington, Seattle, Washington.
Christopher KabrhelDepartment of Emergency Medicine, Center for Vascular Emergencies, Massachusetts General Hospital, Boston, Massachusetts.ORCID 0000-0002-8699-7176
INVENT Consortium

Funding

Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ROSNER, BERNARD A · 2000 to 2019
$77.8M
UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
Validity of Diet and Activity Measures in WomenP01CA055075 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI RIMM, ERIC B · 1991 to 2009
$41.8M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4M
Risk Factors for Breast Cancer in Younger NursesR01CA050385 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI ELIASSEN, A. HEATHER, WILLETT, WALTER C. · 1989 to 2019
$32.3M
Women's Health Study: Continued Follow-upR01CA047988 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI BURING, JULIE E., LEE, I-MIN · 1991 to 2014
$28.2M
Building on GWAS for NHLBI-disease: the CHARGE consortiumRC2HL102419 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2009 to 2010
$27.6M
Cardiovascular Genomics and Bioinformatics projectsZIAHL006170 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI JOHNSON, ANDREW · 2013 to 2025
$25.3M
RISK FACTORS FOR CVD IN WOMENR01HL034594 · NHLBI · TULANE UNIVERSITY OF LOUISIANA · PI JoAnn Elisabeth Manson, Lu Qi · 1985 to 2026
$13.8M
Dietary Etiology of Heart DiseaseR01HL035464 · NHLBI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI ERIC B RIMM, Qi Sun · 1986 to 2026
$13.6M
Premonopausal Hormone Levels and Risk of Breast CancerR01CA067262 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI HANKINSON, SUSAN E · 2002 to 2011
$11.9M
Epidemiology of Venous Thrombosis & Pulmonary EmbolismR01HL059367 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI TANG, WEIHONG · 1998 to 2024
$11.8M
NCATS NIH HHS UL1 TR000124NCI NIH HHS P01 CA055075NCI NIH HHS P01 CA087969NCI NIH HHS R01 CA047988NCI NIH HHS R01 CA049449NCI NIH HHS R01 CA050385NCI NIH HHS R01 CA067262NCI NIH HHS UM1 CA182913NHLBI NIH HHS HHSN268200800007CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HHSN268201600001CNHLBI NIH HHS HHSN268201600002CNHLBI NIH HHS HHSN268201600003CNHLBI NIH HHS HHSN268201600004CNHLBI NIH HHS HHSN268201600018CNHLBI NIH HHS HHSN268201700001CNHLBI NIH HHS HHSN268201700001INHLBI NIH HHS HHSN268201700002CNHLBI NIH HHS HHSN268201700002INHLBI NIH HHS HHSN268201700003CNHLBI NIH HHS HHSN268201700003INHLBI NIH HHS HHSN268201700004CNHLBI NIH HHS HHSN268201700004INHLBI NIH HHS HHSN268201700005CNHLBI NIH HHS HHSN268201700005INHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085086NHLBI NIH HHS R01 HL034594NHLBI NIH HHS R01 HL035464NHLBI NIH HHS R01 HL043201NHLBI NIH HHS R01 HL043851NHLBI NIH HHS R01 HL059367NHLBI NIH HHS R01 HL068639NHLBI NIH HHS R01 HL068986NHLBI NIH HHS R01 HL073410NHLBI NIH HHS R01 HL074745NHLBI NIH HHS R01 HL080467NHLBI NIH HHS R01 HL085251NHLBI NIH HHS R01 HL087652NHLBI NIH HHS R01 HL088521NHLBI NIH HHS R01 HL095080NHLBI NIH HHS R01 HL103612NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL116854NHLBI NIH HHS R01 HL120393NHLBI NIH HHS RC1 HL099355NHLBI NIH HHS RC2 HL102419NHLBI NIH HHS U01 HL080295NHLBI NIH HHS U01 HL130114NIA NIH HHS R01 AG023629NIDDK NIH HHS P30 DK063491NIH HHS S10 OD020069
6 · The paper itself

Abstract

Although recent Genome-Wide Association Studies have identified novel associations for common variants, there has been no comprehensive exome-wide search for low-frequency variants that affect the risk of venous thromboembolism (VTE). We conducted a meta-analysis of 11 studies comprising 8,332 cases and 16,087 controls of European ancestry and 382 cases and 1,476 controls of African American ancestry genotyped with the Illumina HumanExome BeadChip. We used the seqMeta package in R to conduct single variant and gene-based rare variant tests. In the single variant analysis, we limited our analysis to the 64,794 variants with at least 40 minor alleles across studies (minor allele frequency [MAF] ~0.08%). We confirmed associations with previously identified VTE loci, including ABO, F5, F11, and FGA. After adjusting for multiple testing, we observed no novel significant findings in single variant or gene-based analysis. Given our sample size, we had greater than 80% power to detect minimum odds ratios greater than 1.5 and 1.8 for a single variant with MAF of 0.01 and 0.005, respectively. Larger studies and sequence data may be needed to identify novel low-frequency and rare variants associated with VTE risk.

Indexed as

High-Throughput Nucleotide SequencingAllelesBlack or African AmericanCase-Control StudiesExomeFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMicroarray AnalysisOdds RatioPolymorphism, Single NucleotideSample Sizeexomegenetic associationvenous thromboembolism

Identifiers

PMID30659681
PMCPMC6520188

What OpenQuestion holds

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Registered trials

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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.