INSERM, UMR_S1062, Nutrition Obesity and Risk of Thrombosis, Aix-Marseille University, Marseille, France.
J Thromb Haemost. 2013 Jun;11 Suppl 1:111-21. doi: 10.1111/jth.12233.
The genetic burden underlying venous thrombosis (VT) is characterized by a sibling relative risk of 2.5 and a strong heritability whose estimates varied from 35% to 60% according to different studies. However, the genetic factors identified so far only explain about 5% of VT heritability and just 16 genes have been robustly associated with the susceptibility to VT, most of them affecting the coagulation cascade. Eight of these have been identified during the last 5 years, thanks to the development of high-throughput micro-array genotyping technologies, which have radically changed the research landscape in human genetics. The present work is aimed at providing a historical review of the known genetic factors contributing to VT risk, as well as discussing future research strategies to follow to disentangle the whole spectrum of genetic variants associated with VT.
静脉血栓形成（VT）的遗传负担的特点是兄弟姐妹相对风险为 2.5，且具有很强的遗传性，根据不同的研究，其估计值从 35%到 60%不等。然而，迄今为止发现的遗传因素仅能解释约 5%的 VT 遗传性，并且仅有 16 个基因与 VT 的易感性显著相关，其中大多数基因影响凝血级联反应。在过去的 5 年中，由于高通量微阵列基因分型技术的发展，已经确定了其中的 8 个基因，这些技术从根本上改变了人类遗传学的研究格局。本工作旨在对已知的遗传因素进行历史回顾，这些因素导致 VT 风险，并讨论未来的研究策略，以阐明与 VT 相关的所有遗传变异体。
