Next-Generation Cardiovascular Genetics
The Stitziel Lab studies human genetic variation underlying Mendelian and complex forms of cardiovascular disease. We utilize a range of cutting edge next-generation genomic techniques to map causal disease genes, dissect mechanisms and pathways underlying disease, and apply insights from our studies to improve clinical care and human health.
Jung IH, Elenbaas JS, Alisio A, Santana K, Young EP, Kang CJ, Kachroo P, Lavine KJ, Razani B, Mecham RP, Stitziel NO. SVEP1 is a Human Coronary Artery Disease Locus that Promotes Atherosclerosis. Sci Transl Med. 2021 Mar 24;13(586):eabe0357.
ONLINE COVER Proliferation in Plaques. This immunofluorescence image shows a marker of proliferation (minichromosome maintenance protein–2, cyan) and smooth muscle α-actin (red) in a mouse aorta; nuclei are counterstained blue. Jung et al. studied how the extracellular matrix protein sushi, von Willebrand factor type A, EGF, and pentraxin domain-containing protein 1 (SVEP1) contributes to atherosclerosis. They observed less proliferation of vascular smooth muscle cells, reduced inflammation, and smaller plaques in mice lacking transcription of the Svep1 gene in vascular smooth muscle cells. Human plasma samples showed that high SVEP1 concentration was associated with increased risk of coronary artery disease. These results suggest that targeting SVEP1 could be therapeutic for atherosclerosis. [CREDIT: JUNG ET AL./SCIENCE TRANSLATIONAL MEDICINE]