von Depka M, Czwalinna A, Eisert R, Wermes C, Scharrer I, Ganser A, Ehrenforth S
Department of Haematology/Oncology, Hannover Medical School, Germany.
Thromb Haemost. 2001 Dec;86(6):1360-2.
The endothelial cell protein C receptor (EPCR) enhances protein C activation by the thrombin-thrombomodulin complex. As evidence is accumulating that EPCR is an important component of the protein C anticoagulant pathway, polymorphisms in the EPCR gene might be candidate risk factors predisposing to venous thromboembolism (VTE). Recently, a 23bp insertion in exon 3 of the EPCR gene has been identified, which duplicates the preceding 23 bases and results in a STOP codon downstream from the insertion point. However, the clinical significance of this mutation in VTE remains to be clarified.
In this study we evaluated the EPCR 23bp insertion in 889 patients with documented VTE and in 500 healthy controls. The prevalence of the EPCR insertion among patients was 0.1%, which was not significantly different compared to controls (0.6%, p = 0.1).
Our findings showed that the EPCR 23bp insertion is very rare in both patients with VTE and the general population and failed to support an association between the EPCR 23bp insertion and an increased risk of VTE.
内皮细胞蛋白C受体（EPCR）可增强凝血酶-血栓调节蛋白复合物对蛋白C的激活作用。随着越来越多的证据表明EPCR是蛋白C抗凝途径的重要组成部分，EPCR基因的多态性可能是导致静脉血栓栓塞（VTE）的潜在危险因素。最近，已在EPCR基因的外显子3中鉴定出一个23bp的插入片段，该片段重复了前面的23个碱基，并在插入点下游产生了一个终止密码子。然而，这种突变在VTE中的临床意义仍有待阐明。
在本研究中，我们评估了889例有VTE记录的患者和500例健康对照者中的EPCR 23bp插入情况。患者中EPCR插入的发生率为0.1%，与对照组（0.6%，p = 0.1）相比无显著差异。
我们的研究结果表明，EPCR 23bp插入在VTE患者和普通人群中都非常罕见，并且不支持EPCR 23bp插入与VTE风险增加之间存在关联。
