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Venous thromboembolic disease genetics: from variants to function.

Mary UnderwoodChristopher BidlackKarl C Desch
Published in: Journal of thrombosis and haemostasis : JTH (2024)
Venous thromboembolic disease (VTE) is a prevalent and potentially life-threatening vascular disease, including both deep vein thrombosis and pulmonary embolism. This review will focus on recent insights into the heritable factors that influence an individual's risk for VTE. Here, we will explore not only the discovery of new genetic risk variants but also the importance of functional characterization of these variants. These genome-wide studies should lead to a better understanding of the biological role of genes inside and outside of the canonical coagulation system in thrombus formation and lead to an improved ability to predict an individual's risk of VTE. Further understanding of the molecular mechanisms altered by genetic variation in VTE risk will be accelerated by further human genome sequencing efforts and the use of functional genetic screens.
Keyphrases
  • genome wide
  • venous thromboembolism
  • copy number
  • pulmonary embolism
  • dna methylation
  • endothelial cells
  • high throughput
  • inferior vena cava
  • small molecule
  • quality improvement
  • transcription factor