Polymorphisms in the endothelial protein C receptor gene and thrombophilia.
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.
Medina
Pilar
P
Research Center, La Fe University Hospital, Valencia, Spain.
Navarro
Silvia
S
Estellés
Amparo
A
España
Francisco
F
D015703:Antigens, CD / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D001777:Blood Coagulation; D000074283:Endothelial Protein C Receptor; D020022:Genetic Predisposition to Disease; D006801:Humans; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D011486:Protein C / Q000378:metabolism*; D011487:Protein Conformation; D011956:Receptors, Cell Surface / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors; D019851:Thrombophilia / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D013927:Thrombosis / Q000097:blood / Q000235:genetics* / Q000378:metabolism
D015703:Antigens, CD; D000074283:Endothelial Protein C Receptor; C478370:PROCR protein, human; D011486:Protein C; D011956:Receptors, Cell Surface