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.