von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene

• Published in: Blood Vol. 137; no. 23; pp. 3277 - 3283
• Main Authors: Sadler, Brooke, Christopherson, Pamela A., Haller, Gabe, Montgomery, Robert R., Di Paola, Jorge
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 10.06.2021; American Society of Hematology
• Subjects: Clinical Trials and Observations; Female; Genetic Variation; Hemorrhage - genetics; Hemorrhage - metabolism; Humans; Male; rare variants; Sanger sequencing; STATISTICS, Bioinformatics; Thrombosis and Hemostasis; von Willebrand Disease, Type 1 - genetics; von Willebrand Disease, Type 1 - metabolism; von Willebrand Factor - genetics; von Willebrand Factor - metabolism; VWD classification; rare variants; VWD classification; STATISTICS, Bioinformatics; Sanger sequencing

Approximately 35% of patients with type 1 von Willebrand disease (VWD) do not have a known pathogenic variant in the von Willebrand factor (VWF) gene. We aimed to understand the impact of VWF coding variants on VWD risk and VWF antigen (VWF:Ag) levels, studying 527 patients with low VWF and VWD and...