内皮细胞蛋白C受体基因6936A/G多态性与静脉血栓栓塞症相关。
Endothelial cell protein C receptor gene 6936A/G polymorphism is associated with venous thromboembolism.
作者信息
Yin Guancheng, Jin Xing, Ming Hanxin, Zheng Xiao, Zhang Deqing
机构信息
Department of Vascular Surgery, Shandong Provincial Hospital, Shandong University, Jinan 250012;
出版信息
Exp Ther Med. 2012 Jun;3(6):989-992. doi: 10.3892/etm.2012.510. Epub 2012 Mar 12.
Venous thromboembolism (VTE) is a common, yet complex disorder. Genetic factors have been suggested to play a role in disease development. We, therefore, conducted a case-control study to examine the potential association of the 6936A/G polymorphism in the endothelial cell protein C receptor (EPCR) gene with the occurrence of venous thromboembolism. We measured the plasma levels of soluble EPCR (sEPCR) in blood samples collected from 112 patients with VTE and 112 age- and gender-matched healthy donors using enzyme-linked immunosorbent assay (ELISA) and amplified the EPCR gene product by PCR. Gene product bands were sequenced to identify EPCR gene polymorphisms. We found that the 6936 AG and GG genotypes were over-represented in the VTE patients. By multivariate analysis, subjects carrying the 6936 G allele were found to have an increased risk of thrombosis (OR=1.784; 95% CI, 1.113-2.891; P<0.05). In conclusion, the EPCR gene 6936A/G polymorphism, which is associated with elevated plasma sEPCR levels, is a potential candidate risk factor for venous thromboembolism.
静脉血栓栓塞症（VTE）是一种常见但复杂的病症。遗传因素被认为在疾病发展中起作用。因此，我们开展了一项病例对照研究，以探讨内皮细胞蛋白C受体（EPCR）基因6936A/G多态性与静脉血栓栓塞症发生之间的潜在关联。我们采用酶联免疫吸附测定（ELISA）法，对112例VTE患者及112例年龄和性别匹配的健康供体采集的血样中的可溶性EPCR（sEPCR）血浆水平进行了测定，并通过聚合酶链反应（PCR）扩增EPCR基因产物。对基因产物条带进行测序以鉴定EPCR基因多态性。我们发现VTE患者中6936 AG和GG基因型的比例过高。通过多变量分析，发现携带6936 G等位基因的受试者发生血栓形成的风险增加（比值比=1.784；95%可信区间，1.113 - 2.891；P<0.05）。总之，与血浆sEPCR水平升高相关的EPCR基因6936A/G多态性是静脉血栓栓塞症的一个潜在候选风险因素。
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