内皮细胞蛋白C受体基因6936A／G多态性和深静脉血栓形成相关性研究

Relationship between endothelial protein C receptor gene 6936A/G polymorphisms and deep venous thrombosis

目的 通过病例对照研究,了解内皮细胞蛋白C受体（EPCR）基因6936A/G多态性和深静脉血栓形成（DVT）的相关性,进一步了解EPCR在DVT形成中的重要性.方法 用ELISA法检测65例DVT患者和71名健康体检者的外周血血浆可溶性EPCR（sEPCR）水平;提取血细胞中的DNA,PCR扩增后将目的 片段EPCR基因直接测序,分析EPCR基因第6936位点的多态性.结果 ①正常对照组中,AG基因型组血浆sEPCR水平[（0.97±0.32）ng/L]明显高于AA基因型组[（0.61±0.24）ng/L]（P＜0.01）;DVT患者组中AG基因型组[（0.87±0.21）ng/L]亦明显高于AA基因型组[（0.50±0.18）ng/L]（P＜0.01）.②DVT组的血浆sEPCR水平[（0.68±0.32）ng/L]明显高于正常对照组[（0.54±0.22）ng/L]（P＜0.05）.③EPCR基因6936位点AG基因型分布频率DVT组高于正常对照组（P＜0.05）.④AG基因型患DVT的危险性较AA基因型高（OR=2.75,95%可信区间为1.04～7.30）（P＜0.05）.结论 血浆sEPCR水平与EPCR基因6936A/G多态性有关.DVT患者血浆sEPCR水平较正常人增高.EPCR基因6936 AG基因型者可能患DVT的风险高.

Objective To investigate the relationship between endothelial protein C receptor（EPCR）gene 6936A/G polymorphism and deep vein thrombosis（DVT）. Methods The study group included 65 DVT patients and 71 normal controls. Plasma sEPCR was measured by ELISA. Genomic DNA was extracted by using Genomic Purification Kit. A 315bp EPCR product was amplified by a standard PCR reaction, and the bands were confirmed by direct sequencing after purification. Results ①sEPCR levels in healthy controls with 6936AG genotype were significantly higher than that in those with 6936AA genotype [（ 0.97 ± 0. 32 ）ng/L vs （0.61 ± 0.24） ng/L, P 〈 0. 01 ）], and so did in DVT patients [（0.87 ± 0. 21 ） ng/L vs （0.50 ±0. 18） ng/L, P 〈 0. 01]. ②The sEPCR levels of DVT patients [（ 0. 68 ± 0. 32） ng/L] were significantly higher than that of healthy controls [（0.54 ±0.22） ng/L] （P〈0.05）. ③The distribution of 6936A/G genotype was higher in DVT patients than in healthy controls（ P〈0.05 ）. ④Subjects with 6936A/G had an increased risk of thrombosis （OR=2.75, 95% CI=1.04-7.30）（P〈0.05）. Conclusions EPCR gene 6936A/G polymorphism is associated with increased plasma sEPCR levels. The sEPCR levels in DVT patients were significantly higher than that in healthy controls. The subject with 6936AG likely had an increased risk of thrombosis.