Anastasiou Georgia, Politou Marianna, Rallidis Loukianos, Grouzi Elisavet, Karakitsos Petros, Merkouri Efrosini, Travlou Anthi, Gialeraki Argyri
Laboratory of Haematology and Blood Transfusion Unit, Attikon Hospital, School of Medicine, University of Athens, Athens, Greece.
Laboratory of Haematology and Blood Transfusion Unit, Attikon Hospital, School of Medicine, University of Athens, Athens, Greece
Clin Appl Thromb Hemost. 2016 Mar;22(2):199-204. doi: 10.1177/1076029614547261. Epub 2014 Aug 13.
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.
内皮蛋白C受体（EPCR）是血栓形成发病机制中的一个候选介质，因为文献中的一些数据表明，诸如EPCR 4678G/C和4600A/G等多态性分别与保护作用或血栓形成风险增加相关。我们调查了这些多态性在血栓形成性疾病患者中的患病率，以及它们对血栓形成风险、首次血栓形成发作年龄和复发的影响。罕见的EPCR等位基因4600G和4678C在患者和对照组中的患病率相当。然而，在亚组分析中，我们观察到4600G等位基因在较年轻（<35岁）发生血栓形成的患者中更为普遍。此外，与老年患者相比，4678C等位基因在年轻患者中的患病率显著更低。无论年龄如何，这两种多态性似乎都对复发没有影响。与对照组相比，4600AG患者的可溶性EPCR水平升高，而与至少携带1个4678G等位基因的携带者相比，4678CC患者的可溶性EPCR水平较低。我们的数据表明，缺乏保护性的EPCR 4678C等位基因或存在EPCR 4600G等位基因可能与血栓形成的早期发展有关。
