Global prevalence of platelet-type von Willebrand disease.

ABSTRACT:

Background

Platelet-type von Willebrand disease (PT-VWD) is a rare autosomal dominant disorder. It is caused by gain-of-function gene variants in the platelet GP1BA, which results in excessive binding between GPIbα and von Willebrand factor (VWF). The prevalence of PT-VWD is unknown.

Objectives

To establish the worldwide and within distinct ethnic groups prevalence of PT-VWD.

Methods

We used available exome and genome sequencing data of 807,162 (730,947 exomes and 76,215 genomes) subjects from the Genome Aggregation Database (gnomAD-v4.1).

Results

Among the 1,614,324 alleles analyzed in the gnomAD population, there were 1397 distinct GP1BA variants. Of them, 4 variants (p.Arg127Gln, p.Leu194Phe, p.Gly249Val, and p.Met255Ile) have been previously r

SUBMITTER: Seidizadeh O 

PROVIDER: S-EPMC11836505 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature