ReviewJournal of thrombosis and haemostasis : JTH2018
Genetic regulation of plasma von Willebrand factor levels in health and disease.
Review in Journal of thrombosis and haemostasis : JTH, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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.
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.
Who cites it
40 citing papers in PubMed, 73 citations in OpenAlex.
- Von Willebrand factor and factor VIII as potential biomarkers for diagnosis and disease monitoring in chronic graft-versus-host disease.Bone marrow transplantation · 2026Trial
- Trial
- Trial
- Disproportionate Subgaleal Hemorrhage in an Infant: Abuse or Bleeding Disorder?Diagnostics (Basel, Switzerland) · 2026Article
- Von Willebrand disease: A century of progress.Research and practice in thrombosis and haemostasis · 2026Review
- Biology of von Willebrand disease.Blood advances · 2026Review
- Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.Haematologica · 2026Article
- Molecular genetic testing in von Willebrand disease: past, present, and beyond.Haematologica · 2026Review
- Von Willebrand factor and JAK2V617F variant allele frequency predict thrombosis and bleeding in patients with myeloproliferative neoplasms.Annals of hematology · 2025Article
- Thrombotic risk determined byResearch and practice in thrombosis and haemostasis · 2025Article
- Challenges and considerations of genetic testing in von Willebrand disease.Research and practice in thrombosis and haemostasis · 2025Review
- Investigating the shared genetic basis of inflammatory bowel disease and systemic lupus erythematosus using genetic overlap analysis.BMC genomics · 2024Article
- Application of genetic testing for the diagnosis of von Willebrand disease.Journal of thrombosis and haemostasis : JTH · 2024Review
- A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels.Blood · 2024Article
- Characterization of copy-number variants in a large cohort of patients with von Willebrand disease reveals a relationship between disrupted regions and disease type.Research and practice in thrombosis and haemostasis · 2023Article
- Genetic Variants Identified by Whole Exome Sequencing in a Large Italian Family with High Plasma Levels of Factor VIII and Von Willebrand Factor.International journal of molecular sciences · 2023Article
- Current Understanding of Inherited Modifiers of FVIII Pharmacokinetic Variation.Pharmacogenomics and personalized medicine · 2023Review
- Identification of Comorbidities, Genomic Associations, and Molecular Mechanisms for COVID-19 Using Bioinformatics Approaches.BioMed research international · 2023Article
- Dispatch and delivery at the ER-Golgi interface: how endothelial cells tune their hemostatic response.The FEBS journal · 2022Article
- Syntaxin 5 determines Weibel-Palade body size and von Willebrand factor secretion by controlling Golgi architecture.Haematologica · 2022Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Plasma levels of the multimeric glycoprotein von Willebrand factor (VWF) constitute a complex quantitative trait with a continuous distribution and wide range in the normal population (50-200%). Quantitative deficiencies of VWF (< 50%) are associated with an increased risk of bleeding, whereas high plasma levels of VWF (> 150%) influence the risk of arterial and venous thromboembolism. Although environmental factors can strongly influence plasma VWF levels, it is estimated that approximately 65% of this variability is heritable. Interestingly, although variability in VWF can account for ~ 5% of the genetic influence on plasma VWF levels, other genetic loci also strongly modify plasma VWF levels. The identification of the additional sources of VWF heritability has been the focus of recent observational trait-mapping studies, including genome-wide association studies or linkage analyses, as well as hypothesis-driven research studies. Quantitative trait loci influencing VWF glycosylation, secretion and clearance have been associated with plasma VWF antigen levels in normal individuals, and may contribute to quantitative VWF abnormalities in patients with a thrombotic tendency or type 1 von Willebrand disease (VWD). The identification of genetic modifiers of plasma VWF levels may allow for better molecular diagnosis of type 1 VWD, and enable the identification of individuals at increased risk for thrombosis. Validation of trait-mapping studies with in vitro and in vivo methodologies has led to novel insights into the life cycle of VWF and the pathogenesis of quantitative VWF abnormalities.
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Registered trials
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.