SynthesisBMC medical genetics2011
Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
Synthesis in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 4 of them syntheses that pooled 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.
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.
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Who cites it
36 citing papers in PubMed, 4 syntheses or guidelines pooled it, 74 citations in OpenAlex.
- Sex-specific effect of CPB2 Ala147Thr but not Thr325Ile variants on the risk of venous thrombosis: A comprehensive meta-analysis.PloS one · 2017Pooled it
- Single nucleotide polymorphisms in an intergenic chromosome 2q region associated with tissue factor pathway inhibitor plasma levels and venous thromboembolism.Journal of thrombosis and haemostasis : JTH · 2016Pooled it
- A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.BMC medical genetics · 2013Pooled it
- Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.Proceedings of the National Academy of Sciences of the United States of America · 2013Pooled it
- Trial
- Significantly altered peripheral blood cell DNA methylation profile as a result of immediate effect of metformin use in healthy individuals.Clinical epigenetics · 2018Trial
- Trial
- COVID-19 Infection, Drugs, and Liver Injury.Journal of clinical medicine · 2025Review
- Thrombotic risk determined byResearch and practice in thrombosis and haemostasis · 2025Article
- Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels.Arteriosclerosis, thrombosis, and vascular biology · 2023Article
- Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.Nature communications · 2023Article
- 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
- Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.Human molecular genetics · 2022Article
- Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program.Journal of thrombosis and haemostasis : JTH · 2022Article
- Reduction ofFrontiers in cardiovascular medicine · 2022Article
- Genetic variants are identified to increase risk of COVID-19 related mortality from UK Biobank data.medRxiv : the preprint server for health sciences · 2020Article
- The scavenger receptor SCARA5 is an endocytic receptor for von Willebrand factor expressed by littoral cells in the human spleen.Journal of thrombosis and haemostasis : JTH · 2019Article
- The endothelial lectin clearance receptor CLEC4M binds and internalizes factor VIII in a VWF-dependent and independent manner.Journal of thrombosis and haemostasis : JTH · 2019Article
- Genetic regulation of plasma von Willebrand factor levels in health and disease.Journal of thrombosis and haemostasis : JTH · 2018Review
- The commonBlood advances · 2018Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundElevated levels of factor VIII (FVIII) and von Willebrand Factor (vWF) are well-established risk factors for cardiovascular diseases, in particular venous thrombosis. Although high, the heritability of these traits is poorly explained by the genetic factors known so far. The aim of this work was to identify novel single nucleotide polymorphisms (SNPs) that could influence the variability of these traits.
methodsThree independent genome-wide association studies for vWF plasma levels and FVIII activity were conducted and their results were combined into a meta-analysis totalling 1,624 subjects.
resultsNo single nucleotide polymorphism (SNP) reached the study-wide significance level of 1.12 × 10-7 that corresponds to the Bonferroni correction for the number of tested SNPs. Nevertheless, the recently discovered association of STXBP5, STX2, TC2N and CLEC4M genes with vWF levels and that of SCARA5 and STAB2 genes with FVIII levels were confirmed in this meta-analysis. Besides, among the fifteen novel SNPs showing promising association at p < 10-5 with either vWF or FVIII levels in the meta-analysis, one located in ACCN1 gene also showed weak association (P = 0.0056) with venous thrombosis in a sample of 1,946 cases and 1,228 controls.
conclusionsThis study has generated new knowledge on genomic regions deserving further investigations in the search for genetic factors influencing vWF and FVIII plasma levels, some potentially implicated in VT, as well as providing some supporting evidence of previously identified genes.
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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.