# Advances in the genetics of venous thromboembolic disease

## TL;DR

This review summarizes recent genetic discoveries related to venous thromboembolic disease and highlights future research directions.

## Contribution

The paper provides an updated overview of key gene variations linked to venous thromboembolism and emerging research trends.

## Key findings

- Genetic factors contribute 40-60% to the risk of venous thromboembolic disease.
- Mutations in coagulation, anticoagulation, and fibrinolysis systems are associated with VTE.
- New genes and their functional mechanisms are being actively investigated.

## Abstract

静脉血栓栓塞症（VTE）临床常表现为下肢深静脉血栓形成（DVT）和肺栓塞（PE）。VTE是仅次于冠状动脉和脑血管疾病的第三大常见血管疾病。VTE是一种多因素疾病，由遗传性、获得性危险因素相互作用引起。在对家庭、双胞胎、兄弟姐妹的研究中估计遗传率达40％～60％。随着基因测序技术的不断进步，将遗传变异与VTE风险联系起来的信息迅速积累，目前凝血系统、抗凝系统以及纤溶系统中关键基因的突变不断更新，除此之外，新基因的发现以及功能机制探究备受关注。本综述将总结概括VTE相关关键基因变异的研究进展及未来展望。