Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Maria Teresa PagliariAndrea CairoMarco BoscarinoIlaria ManciniEmanuela PappalardoPaolo BucciarelliIda MartinelliFrits R RosendaalFlora PeyvandiPublished in: PloS one (2021)
ADAMTS13 and VWF low-frequency/common variants mainly showed a protective effect, although their association with DVT was not confirmed. DVT patients carrying a rare ADAMTS13 variants had slightly reduced ADAMTS13 activity levels, but a higher DVT risk. Rare VWF and FVIII variants were not associated with DVT suggesting that other mechanisms are responsible for the high VWF and FVIII levels measured in DVT patients.