内皮细胞蛋白C受体基因多态性与下肢深静脉血栓形成的关系及临床意义  

Clinical significance and correlation between gene polymorphism of endothelial protein C receptor and deep venous thrombosis of lower limbs

作　　者：李建强 张宏蕊 杜海潮 石晓明[3] 

机构地区：[1]河北省新乐市社会保险职工医院外一科,050700 [2]河北省献县人民医院急诊科 [3]河北省人民医院普外二科

出　　处：《河北医药》2015年第5期660-662,共3页Hebei Medical Journal

摘　　要：目的探讨内皮细胞蛋白C受体（EPCR）基因第四外显子A4600G位点多态性对河北地区汉族人群下肢深静脉血栓形成的影响。方法应用聚合酶链反应（PCR）技术结合DNA直接测序技术检测河北省汉族人群中200例下肢深静脉血栓形成患者和400例健康体检者的EPCR基因A4600G位点的突变情况。结果深静脉血栓形成患者AA、AG和GG基因型的频率分别为64.00%、30.50%和5.50%,而正常对照组AA、AG、GG基因型的频率分别为81.50%、17.00%和1.50%。深静脉血栓形成患者G等位基因频率为0.2075,正常对照组的G等位基因频率为0.100,病例组明显高于对照组,差异有统计学意义（P〈0.05）。Logistic回归分析结果显示GG基因、G等位基因与下肢深静脉血栓形成的独立危险因素,OR（95%CI）值为2.705（1.208-5.387）（P〈0.05）。结论河北地区汉族人群中EPCR基因A4600G位点存在变异,该位点突变与下肢深静脉血栓患者血栓形成有关。Objective To explore the effect of polymorphism of A4600G locus in exon 4 of endothelial protein C receptor （EPCR） gene on lower limbs deep venous thrombosis （DVT） in Chinese Han population of Hebei province. Methods The polymerase chain reaction （PCR） technique combined with DNA direct sequencing technology was used to detect the mutation status of A4600G locus in exon 4 of EPCR in 200 patients with lower limbs DVT （ DVT group） and 400 healthy subjects （control group ） in Chinese Han population of Hebei province. Results The frequencies of AA, AG and GG genotypes in DVT group were 64% , 33. 5% and 5.5% , respectively, however, which were 81.5% , 17% and 1.5% , respectively in control group. The G allele frequency in DVT group was 0. 2075, however, which was 0. 100 in control group, there was a significant difference between two groups （ P 〈 0.05 ）. Logistic regression analysis showed that GG genotype and G allele were independent risk factors of lower limbs DVT, with OR （ 95% CI ） being 2. 705 （ 1. 208 - 5. 387 ） （ P 〈 0.05 ）. Conclusion A4600G locus variation of EPCR exists in Chinese Han population of Hebei province,which may be correlated with pathogenesis of lower limbs DVT.

关 键 词：深静脉血栓 内皮细胞蛋白C受体 基因多态性 

分 类 号：R364.15[医药卫生—病理学]