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Essentials    Specific sequence variants in the VWF D′D3 region are associated with elevated VWF antigen levels.  VWF levels and variant frequencies were examined in both European and Caucasian Americans.  Subjects homozygous for D′D3 variants had the highest VWF and factor VIII levels.  D′D3 variants are less frequent in type 1 VWD, suggesting a potential protective effect.Background  Genetic variation in the   VWF   gene is associated with von Willebrand factor ( VWF ) and factor  VIII  ( FVIII ) levels in healthy individuals.    Objectives  We hypothesized that   VWF   sequence variants associated with higher  VWF  or  FVIII  could impact the diagnosis of type 1 von Willebrand disease ( VWD ).    Methods  We examined  VWF  antigen ( VWF :Ag),  VWF  ristocetin cofactor activity ( VWF : RC o),  VWF  propeptide ( VWF pp), and  FVIII  levels along with   VWF   gene sequencing in 256 healthy control and 97 type 1  VWD  subjects as part of a cross‐sectional study.    Results  We found several  VWF  sequence variants (  VWF   c.2880G>A and   VWF   c.2365A>G(;)c.2385T>C, found in linkage disequilibrium) associated with higher  VWF  and  FVIII  levels in healthy controls ( P  <   .001 for both variants). In addition, these variants were significantly more common in controls than in subjects diagnosed with type 1  VWD  and  VWF :Ag <30 ( P  <   .005). The decreased variant frequencies in type 1  VWD  was not seen in other  VWD  types.  VWF :Ag,  VWF : RC o, and  FVIII  were not statistically different in type 1  VWD  subjects who had these   VWF   variants compared to type 1  VWD  patients without them. There was no difference in  ABO  blood group,  VWF  propeptide levels (excluding subjects with known  VWF  clearance defects), or bleeding score using the  ISTH  bleeding assessment tool.    Conclusions  These data suggest that certain   VWF   sequence variants associated with elevated  FVIII  and  VWF  levels may protect against reduced  VWF  levels. These findings were independent of other pathogenic sequence variants in   VWF  , suggesting a possible independent effect of c.2880G>A and c.2365A>G(;)c.2385T>C on  VWF  levels.

Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD