title: Endothelial Protein C Receptor Gene Variants and Risk of Thrombosis.
abstract: Endothelial protein C receptor (EPCR) is a candidate mediator in the pathogenesis of thrombosis, as several data in the literature indicate that polymorphisms such as EPCR 4678G/C and 4600A/G are associated with either protective effect or increased risk of thrombosis, respectively. We investigated the prevalence of these polymorphisms in patients with thrombotic disorders as well as their impact on the risk of thrombosis, the age of first thrombotic episode, and recurrence. The prevalence of the rare EPCR alleles 4600G and 4678C was comparable in patients and controls. However, in a subset analysis, we observed that 4600G allele was more prevalent among patients who developed thrombosis at younger age (<35 years). Moreover, the prevalence of 4678C allele was significantly lower in younger patients compared to older patients. Neither polymorphism seemed to have an impact on recurrence regardless of age. Soluble EPCR levels were elevated in 4600AG patients compared to controls while 4678CC patients presented with lower levels of soluble form of EPCR compared to carriers of at least 1 4678G allele. Our data suggest that either the lack of the protective EPCR 4678C allele or the presence of EPCR 4600G allele may be associated with earlier development of thrombosis.
authors.affiliation: Laboratory of Haematology and Blood Transfusion Unit, Attikon Hospital, School of Medicine, University of Athens, Athens, Greece.
authors.forename: Georgia
authors.initials: G
authors.lastname: Anastasiou
authors.affiliation: Laboratory of Haematology and Blood Transfusion Unit, Attikon Hospital, School of Medicine, University of Athens, Athens, Greece mpolitou@med.uoa.gr.
authors.forename: Marianna
authors.initials: M
authors.lastname: Politou
authors.affiliation: Second Department of Cardiology, Attikon Hospital, School of Medicine, University of Athens, Athens, Greece.
authors.forename: Loukianos
authors.initials: L
authors.lastname: Rallidis
authors.affiliation: Laboratory of Haematology and Blood Transfusion Unit, Attikon Hospital, School of Medicine, University of Athens, Athens, Greece.
authors.forename: Elisavet
authors.initials: E
authors.lastname: Grouzi
authors.affiliation: Department of Cytology, Attikon Hospital, School of Medicine, University of Athens, Athens, Greece.
authors.forename: Petros
authors.initials: P
authors.lastname: Karakitsos
authors.affiliation: Laboratory of Haematology and Blood Transfusion Unit, Attikon Hospital, School of Medicine, University of Athens, Athens, Greece.
authors.forename: Efrosini
authors.initials: E
authors.lastname: Merkouri
authors.affiliation: Laboratory of Haematology and Blood Transfusion Unit, Attikon Hospital, School of Medicine, University of Athens, Athens, Greece.
authors.forename: Anthi
authors.initials: A
authors.lastname: Travlou
authors.affiliation: Laboratory of Haematology and Blood Transfusion Unit, Attikon Hospital, School of Medicine, University of Athens, Athens, Greece.
authors.forename: Argyri
authors.initials: A
authors.lastname: Gialeraki
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D015703:Antigens, CD / Q000235:genetics*; D000074283:Endothelial Protein C Receptor; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011956:Receptors, Cell Surface / Q000235:genetics*; D012307:Risk Factors; D013927:Thrombosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D000074283:Endothelial Protein C Receptor; C478370:PROCR protein, human; D011956:Receptors, Cell Surface
keywords: blood coagulation factors; gene polymorphisms; hemostasis; molecular; thrombophilia; thrombosis