Omid Seidizadeh: Uncovering the Genetic Architecture of Low Von Willebrand Factor
Omid Seidizadeh, Research Leader of the A. Bianchi Bonomi Hemophilia and Thrombosis Center, shared a post on LinkedIn about a recent article he and his colleagues co-authored, published in Communications Medicine Nature Portfolio, adding:
“I’m pleased to share our new paper in Communications Medicine Nature Portfolio:
Genetic determinants of low von Willebrand factor from whole exome sequencing.
Low VWF is a common bleeding disorder phenotype, but its genetic basis has remained unclear.
Using whole-exome sequencing in 115 individuals with Low VWF and 139 controls, we found that only 25% of cases carried a known or predicted pathogenic VWF variant.
Instead, our results suggest that Low VWF is often driven by the cumulative effect of multiple rare variants in VWF together with a broader polygenic background involving both VWF and non-VWF genes.
We also newly found that common genetic variants outside of the VWF gene contribute to bleeding severity, supported by both burden testing and polygenic risk score analyses.
These novel findings provide new insight into the complex genetic architecture of Low VWF and may help improve future approaches to diagnosis and risk assessment.”
Title: Genetic determinants of low von Willebrand factor from whole exome sequencing
Authors: Omid Seidizadeh, Andrea Cairo, Luciano Baronciani, Alessandro Ciavarella, Paola Colpani, Cristina Novembrino, Federico Boggio, Francesco Ballardini, Pasquale Agosti, Maria Teresa Pagliari, Simona Maria Siboni, Luca Valenti, Flora Peyvandi
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