Steven Grover: Germline Heterozygous Loss of Function in FXII is Associated with a Significantly Reduced Risk of Venous Thromboembolism
Steven Grover, Staff Scientist II at Beth Israel Deaconess Medical Center, shared on LinkedIn:
“Evidence for a role of coagulation factor FXII in the pathogenesis of venous thromboembolism has proven elusive to date. In work led by Amelia Haj from Tem Bendapudi‘s group we show that germline heterozygous loss of function in FXII is associated with a significantly reduced risk of venous thromboembolism. A 50% reduction in plasma FXII levels, although unremarkable in the classical activated partial thromboplastin time assay, is sufficient to significantly reduce plasma thrombin generation by calibrated automated thrombography and venous thrombosis in a preclinical model.
Delighted to have been involved in this important work alongside several researchers from the Blood Research Center at UNC, Beth Israel Deaconess Medical Center and Massachusetts General Hospital.”
Title: Coagulation factor XII haploinsufficiency is protective against venous thromboembolism in a population-scale multidimensional analysis
Authors: Amelia K. Haj, David S. Paul, Sean J. Jurgens, Harish Eswaran, Lu-Chen Weng, Justine Ryu, Alfonso Rodriguez Espada, Sharjeel Chaudhry, Louis M. Feingold, Kristen Burke, Satoshi Koyama, Xin Wang, Joyce Francis, Seung Hoan Choi, Nigel Mackman, Wolfgang Bergmeier, Alex Burgin, Joel T. Rämö, Patrick T. Ellinor, Steven P. Grover & Pavan K. Bendapudi

The paper is out now in Springer Nature journal Nature Communications, read it here.
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