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[静脉血栓栓塞性疾病的遗传学进展]

[Advances in the genetics of venous thromboembolic disease].

作者信息

Xia Y Q, Tang L, Hu Y

机构信息

Institute of Hematology, Tongji Medical College Affiliated Union Hospital, Huazhong University of Science and Technology, Wuhan 430022, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2024 Dec 14;45(12):1144-1147. doi: 10.3760/cma.j.cn121090-20240327-00117.

Abstract

Venous thromboembolism (VTE) is clinically manifested as deep vein thrombosis (DVT) and pulmonary embolism (PE). VTE is the third most prevalent vascular disease after coronary artery and cerebrovascular diseases. VTE is a multifactorial disease caused by the interaction of genetic and acquired risk factors. Genetic heritability is estimated to be 40%-60% based on studies of families, twins, and siblings. The accumulation of information linking genetic variations to VTE risk has rapidly expanded with the continuous advancement of sequencing technology. Currently, mutations in key genes of the coagulation system, anticoagulation system, and fibrinolysis system are constantly being updated, and the functional mechanisms of new genes are receiving gaining attention. This review summarizes the research progress and prospects of key genetic variations associated with venous thromboembolism.

摘要

静脉血栓栓塞症(VTE)临床表现为深静脉血栓形成(DVT)和肺栓塞(PE)。VTE是仅次于冠状动脉疾病和脑血管疾病的第三大常见血管疾病。VTE是一种由遗传和后天危险因素相互作用引起的多因素疾病。根据对家族、双胞胎和兄弟姐妹的研究,遗传 heritability估计为40%-60%。随着测序技术的不断进步,将基因变异与VTE风险联系起来的信息积累迅速扩大。目前,凝血系统、抗凝系统和纤溶系统关键基因的突变不断更新,新基因的功能机制正受到关注。本文综述了与静脉血栓栓塞相关的关键基因变异的研究进展与展望。

相似文献

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[Advances in the genetics of venous thromboembolic disease].[静脉血栓栓塞性疾病的遗传学进展]
Zhonghua Xue Ye Xue Za Zhi. 2024 Dec 14;45(12):1144-1147. doi: 10.3760/cma.j.cn121090-20240327-00117.
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Venous thromboembolic disease genetics: from variants to function.静脉血栓栓塞性疾病遗传学:从变异到功能。
J Thromb Haemost. 2024 Sep;22(9):2393-2403. doi: 10.1016/j.jtha.2024.06.004. Epub 2024 Jun 21.

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[Analysis of PROC gene variant in a Chinese pedigree affected with hereditary protein C deficiency].[中国遗传性蛋白C缺乏症家系中PROC基因变异分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Nov 10;39(11):1233-1237. doi: 10.3760/cma.j.cn511374-20210809-00661.
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Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.跨种族静脉血栓栓塞症基因组预测因子研究。
Circulation. 2022 Oct 18;146(16):1225-1242. doi: 10.1161/CIRCULATIONAHA.122.059675. Epub 2022 Sep 26.
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Deep Venous Thrombosis.深静脉血栓形成。
Ann Intern Med. 2022 Sep;175(9):ITC129-ITC144. doi: 10.7326/AITC202209200. Epub 2022 Sep 13.

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