ArticleJournal of thrombosis and haemostasis : JTH2013
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.
Article in Journal of thrombosis and haemostasis : JTH, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 57 citations in OpenAlex.
- Trial
- Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.American journal of hematology · 2015Trial
- Genetic analysis using long-read sequencing to overcome the difficulties inResearch and practice in thrombosis and haemostasis · 2025Article
- Silencing of the von Willebrand factor gene in proatherothromboticResearch 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
- Current Understanding of Inherited Modifiers of FVIII Pharmacokinetic Variation.Pharmacogenomics and personalized medicine · 2023Review
- Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.Research and practice in thrombosis and haemostasis · 2022Article
- ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease.Blood advances · 2021Article
- Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.Annals of laboratory medicine · 2019Article
- Role of factor VIII-binding capacity of endogenous von Willebrand factor in the development of factor VIII inhibitors in patients with severe hemophilia A.Haematologica · 2019Article
- Unraveling the effect of silent, intronic and missense mutations onHaematologica · 2019Article
- Genetic regulation of plasma von Willebrand factor levels in health and disease.Journal of thrombosis and haemostasis : JTH · 2018Review
- Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.TH open : companion journal to thrombosis and haemostasis · 2018Article
- Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.Haematologica · 2017Article
- What have we learned from large population studies of von Willebrand disease?Hematology. American Society of Hematology. Education Program · 2016Review
- A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.Blood · 2016Article
- Association of Single Nucleotide Polymorphisms in the ST3GAL4 Gene with VWF Antigen and Factor VIII Activity.PloS one · 2016Article
- Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutations.Journal of thrombosis and haemostasis : JTH · 2015Article
- New insights into genotype and phenotype of VWD.Hematology. American Society of Hematology. Education Program · 2014Review
- p.P2063S: a neutral VWF variant masquerading as a mutation.Annals of hematology · 2014Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundThe von Willebrand factor (VWF) gene is highly polymorphic, with variants correlated with VWF antigen levels, adhesion activity, clearance and factor VIII binding. VWF mutations are detected in patients with von Willebrand disease (VWD), whereas polymorphic variants could be associated with thrombosis. However, information on the ethnic diversity of VWF variants and their association with diseases is limited.
objectivesTo characterize novel VWF variants from different ethnicities in the general population. PATIENTS/
methodsWe analyzed samples from 1092 subjects of 14 ethnicities available in the 1000 Genomes database for VWF variants and their potential functional impacts.
resultsWe identified 2728 SNPs and 91 insertions and deletions that had a high level of ethnic diversity, with Africans having the highest number of variants. The highest level of diversity was found in the D' and D2 domains. Among 94 non-synonymous variants, 31 were predicted to be deleterious, including 19 that were previously associated with VWD. Most of these 'VWD variants' had allele frequencies consistent with disease incidence in European subjects, but some had a significantly higher frequency in other ethnicities. The mutations R2185Q, H817Q and M740I associated with type 1 and type 2N VWD were present in more than 13% of African subjects.
conclusionsThese results highlight the complexity of VWF variations in different ethnic groups and emphasize the importance of interrogating variations on multiple ethnic backgrounds for associations with bleeding and thrombosis.
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