Epidemiology and Genetics of Venous Thromboembolism and Chronic Venous Disease.
Epidemiology and Genetics of Venous Thromboembolism and Chronic Venous Disease.
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DOI：
10.1161/circresaha.121.318322
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发表时间：
2021-06-11
影响因子：
20.1
通讯作者：
Fukaya E
中科院分区：
文献类型：
--
作者：
Baylis RA;Smith NL;Klarin D;Fukaya E
静脉疾病是一个广泛涵盖静脉血栓栓塞症(VTE)和慢性静脉疾病(CVD)的术语。VTE和CVD的基本病理生理机制不同，因为VTE是止血和血栓形成失衡的结果，而CVD发生在组织损害的背景下，原因是持续的静脉高压。这两种疾病都很常见，分别占很大的死亡率和发病率，共同构成了巨大的卫生保健负担。尽管这两种疾病都有很好的环境因素，但几十年来人们都知道，家族史是一个重要的风险因素，与患者的风险有关。我们对这些疾病发病机制的理解极大地得益于人口遗传学研究的扩展，从开创性的家族性研究到大型全基因组关联研究；我们现在每种静脉疾病都有多个危险基因。在这篇综述中，我们将重点介绍静脉血栓栓塞症和心血管疾病的流行病学和遗传学的研究现状和未来的研究方向。
Venous Disease is a term that broadly covers both venous thromboembolic (VTE) disease and chronic venous disease (CVD). The basic pathophysiology of VTE and CVD differ as VTE results from an imbalance of hemostasis and thrombosis while CVD occurs in the setting of tissue damage due to prolonged venous hypertension. Both diseases are common and account for significant mortality and morbidity, respectively, and collectively make up a large health care burden. Despite both diseases having well characterized environmental components, it has been known for decades that family history is an important risk factor, implicating a genetic element to a patient’s risk. Our understanding of the pathogenesis of these diseases has greatly benefited from an expansion of population genetic studies from pioneering familial studies to large genome-wide association studies; we now have multiple risk loci for each venous disease. In this review, we will highlight the current state of knowledge on the epidemiology and genetics of VTE and CVD and directions for future research.