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Thromb Haemost 2007; 98(03): 564-569
DOI: 10.1160/TH07-01-0071
Theme Issue Article
Schattauer GmbH

Polymorphisms in the endothelial protein C receptor gene and thrombophilia

Pilar Medina
1   Research Center, La Fe University Hospital, Valencia, Spain
,
Silvia Navarro
1   Research Center, La Fe University Hospital, Valencia, Spain
,
Amparo Estellés
1   Research Center, La Fe University Hospital, Valencia, Spain
,
Francisco España
1   Research Center, La Fe University Hospital, Valencia, Spain
› Author Affiliations 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.
Further Information

Publication History

Received 31 January 2007

Accepted after resubmission 25 May 2007

Publication Date:
28 November 2017 (online)

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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.

Keywords

Coagulation inhibitors - deep vein thrombosis - inherited coagulation disorders - polymorphisms - protein C/S pathway
 

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