Article
The common VTE-protective G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding.
Blood advances - 14 Jan 2025
Sims Matthew C, Gierula Magdalena, Stephens Jonathan C, Tokolyi Alex, Stefanucci Luca, Persyn Elodie, Sun Luanluan, Collins Janine H, Davenport Emma E, Di Angelantonio Emanuele, Downes Kate, Inouye Michael, Paul Dirk S, Thomas Will, Tolios Alexander, Ouwehand Willem H, Gleadall Nicholas S, Crawley James T B, Butterworth Adam S, Frontini Mattia, Ahnström Josefin
Abstract excerpt
ABSTRACT: The G haplotype is a group of co-inherited single nucleotide variants in the F5 gene that reduce venous thromboembolism (VTE) risk. Although 7% of the population is homozygous for the G haplotype (F5-G/G), the underlying mechanism of VTE protection is poorly understood. Using RNA sequencing data from 4651 blood donors in the INTERVAL study, we detected a rare excision event at the factor V (FV)-short...
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