Comparison of genotypes and phenotypes for von Willebrand factor gene variants using Japanese genome database.

ABSTRACT: von Willebrand disease (VWD) is a common inherited bleeding disorder. The aim of this study was to determine the predicted disease states associated with various pathogenic von Willebrand factor (VWF) variants and their phenotypes using the largest Japanese whole-genome database. Of the 5857 VWF gene variants registered in the Japanese Multi-Omics Reference Panel (jMorp), variants with the following criteria were extracted: (1) caused protein abnormalities due to genetic alterations; (2) have already been detected and included in a database, including known association with VWD; and (3) highly likely pathogenic by in silico analysis. We measured VWF activity, antigen, propeptide, and collagen binding activity in stored plasma samples obtained from heterozygous carriers of the select

SUBMITTER: Akimoto T 

PROVIDER: S-EPMC12320396 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature