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静脉血栓形成的遗传学:2015年更新

Genetics of Venous Thrombosis: update in 2015.

作者信息

Morange Pierre-Emmanuel, Suchon Pierre, Trégouët David-Alexandre

机构信息

Dr. Pierre E. Morange, Inserm - Hematology, 264 Rue Saint-Pierre, 13385 Marseille, France, Tel.: +33 491386049, Fax: +33 491942332, E-mail:

出版信息

Thromb Haemost. 2015 Nov;114(5):910-9. doi: 10.1160/TH15-05-0410. Epub 2015 Sep 10.

Abstract

Venous thrombosis (VT) is a common multifactorial disease with a genetic component that was first suspected nearly 60 years ago. In this review, we document the genetic determinants of the disease, and update recent findings delivered by the application of high-throughput genotyping and sequencing technologies. To date, 17 genes have been robustly demonstrated to harbour genetic variations associated with VT risk: ABO, F2, F5, F9, F11, FGG, GP6, KNG1, PROC, PROCR, PROS1, SERPINC1, SLC44A2, STXBP5, THBD, TSPAN15 and VWF. The common polymorphisms are estimated to account only for a modest part (~5 %) of the VT heritability. Much remains to be done to fully disentangle the exact genetic (and epigenetic) architecture of the disease. A large suite of powerful tools and research strategies can be deployed on the large collections of patients that have already been assembled (and additional are ongoing).

摘要

静脉血栓形成(VT)是一种常见的多因素疾病,具有遗传成分,近60年前首次被怀疑。在本综述中,我们记录了该疾病的遗传决定因素,并更新了高通量基因分型和测序技术应用带来的最新发现。迄今为止,已有17个基因被有力证明存在与VT风险相关的基因变异:ABO、F2、F5、F9、F11、FGG、GP6、KNG1、PROC、PROCR、PROS1、SERPINC1、SLC44A2、STXBP5、THBD、TSPAN15和VWF。据估计,常见的多态性仅占VT遗传度的一小部分(约5%)。要完全厘清该疾病确切的遗传(和表观遗传)结构,仍有许多工作要做。可以在已经收集的大量患者群体(以及正在进行的其他群体)上部署一系列强大的工具和研究策略。

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