Genetic regulation of plasma von Willebrand factor levels in health and disease.

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 o

SUBMITTER: Swystun LL 

PROVIDER: S-EPMC7147242 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature