Precision Medicine Approaches to Vascular Disease

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

卷:77

Review

Miller, Clint L.¹  Kontorovich, Amy R.^2,3,4  Hao, Ke⁵  Ma, Lijiang^2,5  Iyegbe, Conrad⁵  Bjorkegren, Johan L. M.^5,6  Kovacic, Jason C.^2,7,8 

[1] Univ Virginia, Sch Med, Dept Publ Hlth Sci, Ctr Publ Hlth Genom, Charlottesville, VA 22908 USA

[2] Icahn Sch Med Mt Sinai, Zena & Michael A Wiener Cardiovasc Inst, New York, NY 10029 USA

[3] Icahn Sch Med, Mindich Child Hlth & Dev Inst, New York, NY USA

[4] Icahn Sch Med, Inst Genom Hlth, New York, NY USA

[5] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA

[6] Karolinska Inst, Karolinska Univ Sjukhuset, Dept Med, Integrated Cardio Metab Ctr, Huddinge, Sweden

[7] Victor Chang Cardiac Res Inst, Lowy Packer Bldg,405 Liverpool St, Darlinghurst, NSW 2010, Australia

[8] UNSW Sydney, St Vincents Clin Sch, Kensington, NSW, Australia

关键词: cardiovascular;    genetics;    polygenic risk score;    precision medicine;    vascular;   

DOI  :  10.1016/j.jacc.2021.04.001

来源: Elsevier

【 摘 要 】

In this second of a 5-part Focus Seminar series, we focus on precision medicine in the context of vascular disease. The most common vascular disease worldwide is atherosclerosis, which is the primary cause of coronary artery disease, pe-ripheral vascular disease, and a large proportion of strokes and other disorders. Atherosclerosis is a complex genetic disease that likely involves many hundreds to thousands of single nucleotide polymorphisms, each with a relatively modest effect for causing disease. Conversely, although less prevalent, there are many vascular disorders that typically involve only a single genetic change, but these changes can often have a profound effect that is sufficient to cause disease. These are termed Mendelian vascular diseases, which include Marfan and Loeys-Dietz syndromes. Given the very different genetic basis of atherosclerosis versus Mendelian vascular diseases, this article was divided into 2 parts to cover the most promising precision medicine approaches for these disease types. (J Am Coll Cardiol 2021;77:2531-50) (c) 2021 by the American College of Cardiology Foundation.

【 授权许可】

Free