Advances in the genetics of venous thromboembolic disease

VernacularTitle:静脉血栓栓塞疾病的遗传学研究进展
Author: Yunqing XIA ¹ ; Liang TANG ¹ ; Yu HU ¹
Author Information

1. 华中科技大学同济医学院附属协和医院血液病研究所，武汉　430022
Publication Type:Journal Article
From: Chinese Journal of Hematology 2024;45(12):1144-1147
CountryChina
Language:Chinese
Abstract: Venous thromboembolism (VTE) is clinically manifested as deep vein thrombosis (DVT) and pulmonary embolism (PE). VTE is the third most prevalent vascular disease after coronary artery and cerebrovascular diseases. VTE is a multifactorial disease caused by the interaction of genetic and acquired risk factors. Genetic heritability is estimated to be 40%-60% based on studies of families, twins, and siblings. The accumulation of information linking genetic variations to VTE risk has rapidly expanded with the continuous advancement of sequencing technology. Currently, mutations in key genes of the coagulation system, anticoagulation system, and fibrinolysis system are constantly being updated, and the functional mechanisms of new genes are receiving gaining attention. This review summarizes the research progress and prospects of key genetic variations associated with venous thromboembolism.