Ethnic diversity in the genetics of venous thromboembolism
Ethnic diversity in the genetics of venous thromboembolism
复制标题
静脉血栓栓塞遗传学的种族多样性
DOI：
10.1160/th15-04-0330
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发表时间：
2015-11-01
影响因子：
6.7
通讯作者：
Hu, Yu
中科院分区：
文献类型：
--
作者：
Tang, Liang;Hu, Yu
摘要遗传易感性被认为是静脉血栓栓塞症（VTE）发生的关键因素。流行病学和遗传学研究显示，在全世界按种族分层的人群中，VTE的发病率和VTE遗传因素的分布存在明显差异。虽然促凝血基因的功能获得性多态性是欧洲血统人群中常见的遗传因素，但亚洲人静脉血栓形成的最常见分子基础被证实是抗凝基因的功能障碍性变体。随着基因组学技术的突破，在不同的种族群体中也发现了一系列与VTE相关的新的常见等位基因和罕见突变。在非洲血统人群中导致血栓形成倾向发病的几种假定途径在很大程度上是未知的，因为目前对遗传和获得性风险因素的了解并不能完全解释黑人群体中VTE的最高风险。需要在不同种族人群中进行深入研究，以揭示VTE的整个遗传学，这将有助于开发个体风险预测模型和策略，以最大限度地减少所有人群中的VTE。
Summary Genetic susceptibility is considered as a crucial factor for the development of venous thromboembolism (VTE). Epidemiologic and genetic studies have revealed clear disparities in the incidence of VTE and the distribution of genetic factors for VTE in populations stratified by ethnicity worldwide. While gain-of-function polymorphisms in the procoagulant genes are common inherited factors in European-origin populations, the most prevalent molecular basis for venous thrombosis in Asians is confirmed to be dysfunctional variants in the anticoagulant genes. With the breakthrough of genomic technologies, a set of novel common alleles and rare mutations associated with VTE have also been identified, in different ethnic groups. Several putative pathways contributing to the pathogenesis of thrombophilia in populations of African-ancestry are largely unknown, as current knowledge of hereditary and acquired risk factors do not fully explain the highest risk of VTE in Black groups. In-depth studies across diverse ethnic populations are needed to unravel the whole genetics of VTE, which will help developing individual risk prediction models and strategies to minimise VTE in all populations.