Genetics research contributes to the etiology exploration of venous thromboembolism / 中华检验医学杂志

ABSTRACT

Venous thromboembolism (VTE) is a common multifactorial disease that results from hypercoagulable action of genetic factors and environmental exposures. VTE associated genetic factors include anticoagulant gene loss of function (LOF), procoagulant gene gain of function (GOF), the fibrinolytic system genes dysfunction, variants and epigenetic changes that cause hypercoagulability indirectly. Some VTE follows the pattern of Mendelian inheritance; also, genetic polymorphism is an important aspect of genetic susceptibility to VTE. For patients with suspected VTE associated genetic dysfunctions, polymorphisms test should be performed to those who is supposed to have obvious known polymorphisms genetic susceptibility. In contrast, the individuals who suffer from Mendelian disease or other types of disease with unknown gene variants, NGS test should be a good choice. Further, genetic polygenic risk score (PRS) or epigenetic biomarkers are suitable for VTE recurrence risk assessment.