Genetic variations and their influence on risk and treatment of venous thrombosis

Abstract

Venous thrombosis (VT) is a highly prevalent disease. Risk factors can be genetic or acquired. The well-established genetic polymorphisms predisposing to thrombophilic disorders can be divided into rare ‘loss-of-function mutations’ in anticoagulant proteins and common ‘gain-of-function mutations’ in procoagulant proteins, which are weaker risk factors. In addition to functional polymorphisms, defects in common pathways affecting biosynthesis or clearance of plasma coagulation factors and their relations to VT risk have been detected. Recently, investigations regarding genetic variations and response to drug treatment, relevant for the pathogenesis as well as therapy of venous thromboembolism have been performed. The methodical advances in genetic research have led to the identification of a number of new variants with still unclear association to VT. This review aims to discuss the established genetic risk factors as well as some candidate predictors of VT. Further, the recent developments in pharmacogenomics are reviewed.