Document Detail


Genetic determinants of von Willebrand factor levels and activity in relation to the risk of cardiovascular disease: a review.
MedLine Citation:
PMID:  21342431     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
It is well established that high plasma von Willebrand factor (VWF) levels are associated with an increased risk of arterial thrombosis, including myocardial infarction and ischemic stroke. As plasma VWF levels are, to a large extent, genetically determined, numerous association studies have been performed to assess the effect of genetic variability in the VWF gene (VWF) on VWF antigen and activity levels, and on the risk of arterial thrombosis. Genetic variations in other regulators of VWF, including the ABO blood group, ADAMTS-13, thrombospondin-1 and the recently identified SNARE protein genes, have also been investigated. In this article, we review the current literature as exploring the associations between genetic variations and the risk of arterial thrombosis may help elucidate the role of VWF in the pathogenesis of arterial thrombosis. However, as studies frequently differ in design, population and endpoint, and are often underpowered, it remains unclear whether VWF is causally related to the occurrence of arterial thrombosis or primarily mirrors endothelial dysfunction, which predisposes to atherosclerosis and subsequent arterial thrombosis. Nevertheless, current studies provide interesting results that do not exclude the possibility of VWF as causal mediator and justify further research into the relationship between VWF and arterial thrombosis. Large prospective studies are required to further establish the role of VWF in the occurrence of arterial thrombosis.
Authors:
M C van Schie; J E van Loon; M P M de Maat; F W G Leebeek
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Journal of thrombosis and haemostasis : JTH     Volume:  9     ISSN:  1538-7836     ISO Abbreviation:  J. Thromb. Haemost.     Publication Date:  2011 May 
Date Detail:
Created Date:  2011-05-10     Completed Date:  2011-10-03     Revised Date:  2011-11-28    
Medline Journal Info:
Nlm Unique ID:  101170508     Medline TA:  J Thromb Haemost     Country:  England    
Other Details:
Languages:  eng     Pagination:  899-908     Citation Subset:  IM    
Copyright Information:
© 2011 International Society on Thrombosis and Haemostasis.
Affiliation:
Department of Haematology, Erasmus University Medical Centre, Rotterdam, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
ABO Blood-Group System
ADAM Proteins / biosynthesis
Adult
Aged
Arteries / pathology
Cardiovascular Diseases / diagnosis*,  genetics*
Genetic Variation
Humans
Ischemia / pathology
Middle Aged
Models, Genetic
Myocardial Infarction / diagnosis,  pathology
Polymorphism, Single Nucleotide
Risk
Stroke / genetics,  pathology
Thrombosis / pathology
Thrombospondin 1 / biosynthesis
von Willebrand Factor / biosynthesis,  genetics*
Chemical
Reg. No./Substance:
0/ABO Blood-Group System; 0/Thrombospondin 1; 0/von Willebrand Factor; EC 3.4.24.-/ADAM Proteins; EC 3.4.24.-/ADAMTS13 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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