The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance.

ABSTRACT: Plasma levels of von Willebrand factor (VWF) vary considerably in the general population and this variation has been linked to several genetic and environmental factors. Genetic factors include 2 common single nucleotide variants (SNVs) located in VWF, rs1063856 (c.2365A>G) and rs1063857 (c.2385T>C), although to date the mechanistic basis for their association with VWF level is unknown. Using genotypic/phenotypic information from a European healthy control population, in vitro analyses of recombinant VWF expressing both SNVs, and in vivo murine models, this study determined the precise nature of their association with VWF level and investigated the mechanism(s) involved. Possession of either SNV corresponded with a significant increase in plasma VWF in healthy controls (P < .

SUBMITTER: Mufti AH 

PROVIDER: S-EPMC6039659 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature