SynthesisEuropean journal of human genetics : EJHG2016
Genome-wide association studies identify genetic loci for low von Willebrand factor levels.
Synthesis in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 30 papers.
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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.
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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.
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Who cites it
30 citing papers in PubMed, 64 citations in OpenAlex.
- Trial
- Historical review: more than two decades understanding the genetic architecture of hemostasis and thrombosis.Journal of thrombosis and haemostasis : JTH · 2026Review
- Ufmylation Suppresses Unfolded Protein Response to Prevent Peripartum Cardiomyopathy.JACC. Basic to translational science · 2025Article
- Rare variants inERJ open research · 2025Article
- Thrombotic risk determined byResearch and practice in thrombosis and haemostasis · 2025Article
- Clusterin knockdown has effects on intracellular and secreted von Willebrand factor in human umbilical vein endothelial cells.PloS one · 2024Article
- Plasma Clearance of Coagulation Factor VIII and Extension of Its Half-Life for the Therapy of Hemophilia A: A Critical Review of the Current State of Research and Practice.International journal of molecular sciences · 2023Review
- 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
- Article
- Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations.Blood advances · 2022Article
- GDP/GTP exchange factor MADD drives activation and recruitment of secretory Rab GTPases to Weibel-Palade bodies.Blood advances · 2021Article
- The Importance of Glycosylation in COVID-19 Infection.Advances in experimental medicine and biology · 2021Article
- Associations between blood type and COVID-19 infection, intubation, and death.Nature communications · 2020Article
- Common and Rare Variants in Genes Associated with von Willebrand Factor Level Variation: No Accumulation of Rare Variants in Swedish von Willebrand Disease Patients.TH open : companion journal to thrombosis and haemostasis · 2020Article
- The role of haematological traits in risk of ischaemic stroke and its subtypes.Brain : a journal of neurology · 2020Article
- The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease.Current opinion in hematology · 2019Review
- Ufbp1 promotes plasma cell development and ER expansion by modulating distinct branches of UPR.Nature communications · 2019Article
- Indispensable role of the Ubiquitin-fold modifier 1-specific E3 ligase in maintaining intestinal homeostasis and controlling gut inflammation.Cell discovery · 2019Article
- Genetic regulation of plasma von Willebrand factor levels in health and disease.Journal of thrombosis and haemostasis : JTH · 2018Review
Corrections and comments
- Erratum issued
Authors and funding
33 authors at 13 institutions in 3 countries.
Funding
Abstract
Low von Willebrand factor (VWF) levels are associated with bleeding symptoms and are a diagnostic criterion for von Willebrand disease, the most common inherited bleeding disorder. To date, it is unclear which genetic loci are associated with reduced VWF levels. Therefore, we conducted a meta-analysis of genome-wide association studies to identify genetic loci associated with low VWF levels. For this meta-analysis, we included 31 149 participants of European ancestry from 11 community-based studies. From all participants, VWF antigen (VWF:Ag) measurements and genome-wide single-nucleotide polymorphism (SNP) scans were available. Each study conducted analyses using logistic regression of SNPs on dichotomized VWF:Ag measures (lowest 5% for blood group O and non-O) with an additive genetic model adjusted for age and sex. An inverse-variance weighted meta-analysis was performed for VWF:Ag levels. A total of 97 SNPs exceeded the genome-wide significance threshold of 5 × 10(-8) and comprised five loci on four different chromosomes: 6q24 (smallest P-value 5.8 × 10(-10)), 9q34 (2.4 × 10(-64)), 12p13 (5.3 × 10(-22)), 12q23 (1.2 × 10(-8)) and 13q13 (2.6 × 10(-8)). All loci were within or close to genes, including STXBP5 (Syntaxin Binding Protein 5) (6q24), STAB5 (stabilin-5) (12q23), ABO (9q34), VWF (12p13) and UFM1 (ubiquitin-fold modifier 1) (13q13). Of these, UFM1 has not been previously associated with VWF:Ag levels. Four genes that were previously associated with VWF levels (VWF, ABO, STXBP5 and STAB2) were also associated with low VWF levels, and, in addition, we identified a new gene, UFM1, that is associated with low VWF levels. These findings point to novel mechanisms for the occurrence of low VWF levels.
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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.