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DOI: 10.1160/TH07-01-0071
Polymorphisms in the endothelial protein C receptor gene and thrombophilia
Financial support: This study was supported in part by research grants from Fundación Mutua Madrileña, from Generalitat Valenciana (ACOMP06/024) and from Plan Nacional de Investigación Científica, Desarrollo e Innovación Tecnológica (I+D+I) e Instituto de Salud Carlos III, Fondo de Investigación Sanitaria (PI050799, PI050844 and Red RECAVA RD06/0014/0004), Madrid, Spain.Publication History
Received
31 January 2007
Accepted after resubmission
25 May 2007
Publication Date:
28 November 2017 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00035024/200703/lookinside/thumbnails/10-1160-th07-01-0071-1.jpg)
Summary
The protein C anticoagulant pathway plays a crucial role as a regulator of the blood clotting cascade. Protein C is activated on the vascular endothelial cell membrane by the thrombin-thrombomodulin complex. Once formed, activated protein C (APC) down-regulates thrombin formation by inactivating factors (F)Va and FVIIIa. Endothelial protein C receptor (EPCR) is able to bind protein C and increase the rate of protein C activation. Normal APC generation depends on the precise assemblage, on the surface of endothelial cells, of thrombin, thrombomodulin, protein C and EPCR.Therefore, any change in the efficiency of this assemblage may cause reduced/increased APC generation and modify the risk of thrombosis. This review highlights the different mutations/polymorphisms reported in the EPCR gene and their association with the risk of thrombosis.
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