凝血酶激活的纤溶抑制物编码区基因单核苷酸多态性与静脉血栓栓塞症的相关性分析  

Correlation analysis of Thrombin-activatable Fibrinolysis Inhibitor Single Nucleotide Polymorphism with Venous Thromboembolism

作　　者：李参[1] 侯丽虹[1] 刘秀娥[1] 黄灿[1] 卫晓华[1] 

机构地区：[1]山西医科大学第二医院血液科,山西太原030001

出　　处：《中国实验血液学杂志》2012年第4期949-953,共5页Journal of Experimental Hematology

基　　金：山西省自然科学基金资助项目(编号2010011050-5)

摘　　要：本研究探讨凝血酶激活的纤溶抑制物(TAFI)及其基因编码区2个位点(505a/g,1040c/t)单核苷酸多态性与静脉血栓栓塞症(VTE)的相关性。应用等位基因特异性-聚合酶链反应(AS-PCR)分析技术,检测80例VTE患者和80例正常对照的TAFI基因型分布。结果表明:1040c/t点VTE组t等位基因的频率较对照组明显下降(40%vs 53.75%,P<0.05),这主要由于病例组tt纯合子型比例显著下降所致(P<0.05,风险比1.74,95%CI 1.2-2.70),但505a/g多态性位点在VTE及对照组中各基因型及基因频率的差异无统计学意义。结论:TAFI 1040c/t基因多态性与VTE患者存在相关性;t等位基因可能在VTE患者起保护作用;TAFI 505a/g基因多态性可能与VTE无关。This study was aimed to explore the change of single nucleotide polymorphism （SNP） of thrombin- activatable fibrinolysis inhibitor（TAFI） and its correlation of 2 sites （505a/g, 1040c/t） in its gene-coding region with venous thromboembolism （VTE）. The genotype distribution of TAF1 in 80 patients with VTE and 80 normal controls was detected by allele-specific PCR, The results showed that the distribution of each genotype of 505a/g polymorphism was not significantly different between the VTE and control groups （ P 〉 0.05 ）. However, t allele frequency of 1040c/t in VTE group decreased significantly as compared with the control group （40% vs 53.75%, P 〈0.05 ）, mainly due to the decrease of the proportion of tt homozygous in VTE group. It is concluded that obvious relationship is found between the polymorphism of 1040c/t in TAFI gene and VTE patients, t allele genotype may paly a protective role in VTE. The polymorphism of TAFI 505a/g may be not associated with VTE.

关 键 词：静脉血栓栓塞症 凝血酶激活的纤溶抑制物 单核苷酸多态性 

分 类 号：R543.2[医药卫生—心血管疾病] R364.15[医药卫生—内科学]