Thromb Haemost 2001; 86(04): 945-948
DOI: 10.1055/s-0037-1616515
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A 23bp Insertion in the Endothelial Protein C Receptor (EPCR) Gene Impairs EPCR Function

Eugenia Biguzzi
1   Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, I. R. C. C. S. Maggiore Hospital and University of Milano, Italy
,
Giuliana Merati
1   Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, I. R. C. C. S. Maggiore Hospital and University of Milano, Italy
,
Patricia C. Y. Liaw
2   Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma
,
Paolo Bucciarelli
1   Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, I. R. C. C. S. Maggiore Hospital and University of Milano, Italy
,
Natalia Oganesyan
3   Howard Hughes Medical Institute, Oklahoma City, Oklahoma, USA
,
Dongfeng Qu
2   Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma
,
Jian-Ming Gu
2   Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma
,
Raffaela Fetiveau
4   Division of Cardiology, I. R. C. C. S. Policlinico S. Matteo, Pavia, Italy
,
Charles T. Esmon
2   Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma
3   Howard Hughes Medical Institute, Oklahoma City, Oklahoma, USA
,
Pier Mannuccio Mannucci
1   Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, I. R. C. C. S. Maggiore Hospital and University of Milano, Italy
,
Elena M. Faioni
1   Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, I. R. C. C. S. Maggiore Hospital and University of Milano, Italy
› Author Affiliations
Further Information

Publication History

Received 31 December 2000

Accepted after resubmission 12 June 2001

Publication Date:
09 December 2017 (online)

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Summary

EPCR is a type I transmembrane protein, highly expressed on the endothelium of large vessels, that binds protein C and augments its activation. In this study, a 23bp insertion in the EPCR gene was found in 4/198 survivors of myocardial infarction and 3/194 patients with deep vein thrombosis. The EPCR gene with the insertion predicts a protein that lacks part of the extracellular domain, the transmembrane domain and the cytoplasmic tail. Expression studies showed that the truncated protein is not localized on the cell surface, cannot be secreted in the culture medium, and does not bind activated protein C. Since protein C activation depends on the concentration of EPCR, patients with the EPCR insertion could have a diminished protein C activation capacity. Further clinical studies of adequate samples size are necessary to establish whether or not the EPCR insertion predisposes to the development of thrombotic events.