Polymorphisms in the endothelial protein C receptor gene and thrombophilia

Pilar Medina; Silvia Navarro; Amparo Estellés; Francisco España

doi:10.1160/TH07-01-0071

Thrombosis and Haemostasis, Table of Contents

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

Authors

Pilar Medina

¹Research Center, La Fe University Hospital, Valencia, Spain
Silvia Navarro

¹Research Center, La Fe University Hospital, Valencia, Spain
Amparo Estellés

¹Research Center, La Fe University Hospital, Valencia, Spain
Francisco España

¹Research Center, La Fe University Hospital, Valencia, Spain

Abstract

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

Full Text

References

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