Evidence map›Paper›PMID 41352609›Full record

ReviewJournal of thrombosis and haemostasis : JTH2026

Historical review: more than two decades understanding the genetic architecture of hemostasis and thrombosis.

Maria Sabater-Lleal, Florian Thibord, Paul S de Vries, Jennifer Huffman, Alisa S Wolberg, Charles J Lowenstein, Alanna C Morrison, Andrew D Johnson, Nicholas L Smith

Abstract readReviewHistorical Article
In one paragraph

Review in Journal of thrombosis and haemostasis : JTH, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Maria Sabater-LlealUnit of Genomics of Complex Disease, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Cardiology Unit, Department of Medicine, Karolinska Institutet, Center for Molecular Medicine, Stockholm, Sweden. Electronic address: msabater@santpau.cat.
Florian ThibordUniversity of Bordeaux, Institut National de la Santé et la Recherche Médicale, Bordeaux Population Health Research Center (Medical Research Unit 1219), Bordeaux, France.
Paul S de VriesHuman Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Jennifer HuffmanPalo Alto Veterans Affairs Institute for Research, Veterans Affairs Palo Alto Heath Care System, Palo Alto, California, USA; Military and Veterans Evidence-based Research in Clinical Care, Veterans Affairs Boston Healthcare System, Boston, Masaachusetts, USA.
Alisa S WolbergDepartment of Pathology and Laboratory Medicine and University of North Carolina Blood Research Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Charles J LowensteinDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Alanna C MorrisonHuman Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Andrew D JohnsonNational Heart Lung and Blood Institute, Division of Intramural Research, Population Sciences Branch, The Framingham Heart Study, Framingham, Massachusetts, USA. Electronic address: https://x.com/@ADJOmics.
Nicholas L SmithDepartment of Epidemiology, University of Washington, Seattle, Washington, USA; Kaiser Permanente Washington Health Research Institute, Kaiser Permanente Washington, Seattle, Washington, USA; Seattle Epidemiologic Research and Information Center, Department of Veterans Affairs Office of Research and Development, Washington, USA.

Funding

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
Analysis 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
$5.0M
Using genomics and functional biology to understand fibrinogen and its effect on thrombotic and atherosclerotic outcomesR01HL141291 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI Alanna C Morrison, Alisa S. Wolberg · 2019 to 2026
$4.6M
Fibrinogen and Factor XIII in Venous ThrombosisR01HL126974 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Alisa S. Wolberg · 2016 to 2026
$4.4M
Genetic Discovery and Functional Validation to Identify Precursors of Clot Embolization in those with a Deep Vein ThrombosisR01HL147894 · NHLBI · UNIVERSITY OF WASHINGTON · PI SMITH, NICHOLAS L, WOLBERG, ALISA S. · 2021 to 2024
$2.6M
NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL126974NHLBI NIH HHS R01 HL139553NHLBI NIH HHS R01 HL141291NHLBI NIH HHS R01 HL147894
6 · The paper itself

Abstract

From the beginning of the millennium and the development of genome-wide analyses, the technical advances and remarkable increase in research sample sizes have led to an escalating number of discoveries revealing genetic determinants of levels of the main factors regulating hemostasis and thrombosis and demonstrating a clear polygenic complex regulation of most coagulation factors. These discoveries have been useful to understand the biology underlying hemostasis regulation and to understand risk of associated thrombotic disease, such as venous thromboembolism, coronary artery disease, and ischemic stroke. In this historical review, we outline the main discoveries in genetic studies of coagulation factors (fibrinogen and its alternatively spliced γ' isoform, D-dimer, factor [F]V, FVII, FVIII, von Willebrand factor, and FXI), the main natural anticoagulants (protein C, protein S, and antithrombin), components of fibrinolysis (tissue plasminogen activator and plasminogen activator inhibitor-1), and global coagulation tests (prothrombin time and activated partial thromboplastin time). We explore the clinical implications of these discoveries and suggest new avenues for future investigation.

Indexed as

Blood CoagulationBlood Coagulation FactorsHemostasisThrombosisAnimalsFibrinolysisGenetic Predisposition to DiseaseHistory, 20th CenturyHistory, 21st CenturyHumansBlood Coagulation Factorsblood coagulation factorscoagulationgenome-wide association studyhemostasishistorical reviewreview literature as topic

Identifiers

PMID41352609
PMCPMC13171595

What OpenQuestion holds

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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.