中国孕产妇静脉血栓栓塞遗传性危险因子作用途径的研究

项目名称： 中国孕产妇静脉血栓栓塞遗传性危险因子作用途径的研究

项目编号： No.81472990

项目类型： 面上项目

立项/批准年度： 2015

项目学科： 医药、卫生

项目作者： 车焱

作者单位： 上海市计划生育科学研究所

项目金额： 75万元

中文摘要： 静脉血栓栓塞(VTE)是发达国家孕产妇主要死亡原因之一，遗传性危险因子在其发生过程中扮演了重要角色，涉及单一或多个相关基因的缺陷或突变。随着诊断水平的提高，近年来VTE在我国孕产妇死亡原因构成明显增加。但国内临床医师仍未充分认识到防治孕产妇VTE的重要性，我国孕产妇VTE发病率至今空白，同时未见设计严谨的孕产妇VTE遗传性危险因子作用途径的研究。本项目将与上海市11家医院合作，用1年左右的时间招募5.5万早孕妇女，密切观察至其产后42天，发现所有VTE患者，以获得我国孕产妇VTE发病率资料。同时，以新发VTE患者为病例开展巢式病例对照研究，利用分子生物学技术，探讨孕产妇VTE遗传性危险因子的作用途径，分析关键遗传性危险因子在我国孕产妇VTE患者中基因缺陷或突变发生率、分析获得性危险因子与遗传性危险因子的交互作用，建立孕产妇VTE 风险预测数学模型，以为我国孕产妇VTE防治提供依据。

中文关键词： 静脉血栓栓塞；妊娠；遗传性危险因子；基因突变

英文摘要： As one of the major causes of maternal mortality in developed nations, venous thromboembolism (VTE) is dominated to a great extend by individual's genetic risk factors, covering single or multiple genteic mutation. It is assumed that diagnostic limitation led to many VTE women misdiagnosed, and such an inconsistency in incidence was altered in China during the recent year due to improved diagnostic methods and concepts. But still have Chinese obstetrical clinicians not fully been aware of the importance in preventing and treating maternal VTE, many of them still believe obstetrical hemorrhage as the mere prominent cause to maternal mortality. One of the major reasons for this phenomenone is missing of maternal VTE incidence in Chinese population. Literature searching indicated that no relevant perspective cohort study with a large sample size is available in China. Meanwhile the mechanism and expression of genetic risk factors in Chinese maternal VTE also remains yet to be investigated. This proposed study is planned to collaborate with 11 hospitals in Shanghai to enroll 5,5000 women at first-trimester gestional age within approximate one year. All of them will be followed up to 42 days after their child birth. Among them, any VTE suspection will be confirmed by pre-established diagnosis criteria. Through which, the incidence of maternal VTE in Chinese population can be obtained. All idenfitied VTE cases will be invited to participate in a nested case-control study, which is aimed to investigate the mutation rate of genetic risk factors to maternal VTE, and the interaction of genetic and acquired risk factors to maternal VTE. This study will be the first maternal VTE perspective cohort study in China. Based on solid data of this study, a maternal VTE prediction mathematical model will be established, which is set to provide theoretical support for prevention and treatment of maternal VTE in Chinese population.

英文关键词： Venous Thromboembolism;Pregnancy;Genetic Risk Factor;Genetic Mutation