Aanya Deol
Research Mentor: Karl Desch
Mentor Department: Pediatrics, Medicine
Author(s): Aanya Deol, Ashley Slaviero, Karl Desch
Session: Session 2 (10:00 AM – 10:50 AM)
Presentation Type: Poster 29
Abstract
Venous thromboembolism (VTE), which includes deep vein thrombosis and pulmonary embolism, is the third most common cause of death in the United States today. Genetic mutations are one of the multiple risk factors for VTE. In 2020, a whole-exome study involving patients with VTE and a control group without VTE identified a novel gene statistically correlated with VTE risk, STAB2. The STAB2 gene codes for a clearance receptor protein (stabilin-2) on the surface of specialized endothelial cells (thin layer of cells lining the circulatory system) found in the liver sinusoids. Stabilin-2 has also previously been thought to clear Von Willebrand factor and coagulation factor VIII from the body, which are glycoproteins that facilitate blood clotting. Mutations on the STAB2 gene could result in the receptor protein not being expressed on the surface of the cell or a nonfunctional receptor that is unable to bind and clear key hemostatic substrates. The aim of this research project is to assess five genetic variants of STAB2 associated with increased VTE risk in humans and determine their expression patterns and functional abilities compared to reference. This research can help increase understanding of the role of stabilin-2 in hemostasis and diseases such as VTE.
