静脉血栓栓塞症中遗传性蛋白C和蛋白S缺乏及其遗传危险因素的研究现状  

Current research status of hereditary protein C and protein S deficiency with genetic risk factors in venous thromboembolism

作　　者：陈艳 刘天 陈璋辉 Chen Yan;Liu Tian;Chen Zhanghui(Guangdong Medical University,Zhanjiang 524023,Guangdong Province,China;Laboratory of Hematology,Affiliated Hospital of Guangdong Medical University,Zhanjiang 524001,Guangdong Province,China)

机构地区：[1]广东医科大学,湛江524023 [2]广东医科大学附属医院血液疾病研究室,湛江524001

出　　处：《国际输血及血液学杂志》2021年第3期191-197,共7页International Journal of Blood Transfusion and Hematology

基　　金：国家自然科学基金(81971886);广东省基础与应用基础研究基金(2020A1515010468)。

摘　　要：静脉血栓栓塞症(VTE)是由遗传和环境因素共同引起的疾病。与欧洲和北美洲人群常见的遗传危险因素不同,亚洲人群VTE的主要遗传危险因素是遗传性抗凝蛋白缺乏。蛋白C和蛋白S均为维生素K依赖的抗凝蛋白,在调节机体凝血功能过程中发挥重要作用。因此,遗传性蛋白C和蛋白S缺乏症相关遗传危险因素的鉴定,对亚洲人群VTE的临床研究具有重要意义。近年来,相关研究已明确部分亚洲人群中遗传性蛋白C和蛋白S缺乏症常见的PROC和PROS1基因突变,并证实其与VTE发生风险增加密切相关。为了提高对VTE的诊治水平,笔者拟就亚洲人群中遗传性蛋白C和蛋白S缺乏症的常见遗传危险因素进行阐述。Venous thromboembolism(VTE)is a disease caused by genetic and environmental factors.Different from the common genetic risk factors in European and North American populations,the main genetic risk factor of VTE in Asian populations is genetic anticoagulant proteins deficiency.Both protein C and protein S are vitamin K-dependent anticoagulant proteins,which play an important role in regulating coagulation function.Therefore,identification of genetic risk factors for genetic protein C and protein S deficiency has important significance for clinical studies of VTE in Asian populations.Recent studies have identified PROC and PROS1 gene mutations of genetic protein C and protein S deficiency in Asian populations and confirmed that they are significantly related to the increased risk of VTE.To improve diagnosis and treatment of VTE,this article reviews common genetic risk factors of hereditary protein C and protein S deficiency in Asian populations.

关 键 词：静脉血栓栓塞 蛋白C 蛋白S 突变 危险因素 血栓形成 

分 类 号：R543.6[医药卫生—心血管疾病]