TY - JOUR
T1 - Precision Medicine Approaches to Vascular Disease
T2 - JACC Focus Seminar 2/5
AU - Miller, Clint L.
AU - Kontorovich, Amy R.
AU - Hao, Ke
AU - Ma, Lijiang
AU - Iyegbe, Conrad
AU - Björkegren, Johan L.M.
AU - Kovacic, Jason C.
N1 - Funding Information:
Dr. Miller has received research support from the National Institutes of Health (NIH) (R01HL148239 and R00HL125912) and the Leducq Foundation. Dr. Kontorovich has received research support from the NIH (K23HL140083). Dr. Hao has received research support from the NIH (1R01ES029212-01). Dr. Björkegren has received research support from the NIH (R01HL125863), the Swedish Research Council (2018-02529), the Heart Lung Foundation (20170265), the Leducq Foundation (PlaqueOmics: Novel Roles of Smooth Muscle and Other Matrix Producing Cells in Atherosclerotic Plaque Stability and Rupture, 18CVD02; and CADgenomics: Understanding CAD Genes, 12CVD02), and AstraZeneca. Dr. Kovacic has received research support from the NIH (R01HL130423, R01HL135093, and R01HL148167-01A1) and New South Wales health grant RG194194. Dr. Björkegren is a shareholder in Clinical Gene Network AB who have an invested interest in STARNET. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.
Publisher Copyright:
© 2021 American College of Cardiology Foundation
PY - 2021/5/25
Y1 - 2021/5/25
N2 - 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, peripheral 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.
AB - 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, peripheral 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.
KW - cardiovascular
KW - genetics
KW - polygenic risk score
KW - precision medicine
KW - vascular
UR - http://www.scopus.com/inward/record.url?scp=85105549976&partnerID=8YFLogxK
U2 - 10.1016/j.jacc.2021.04.001
DO - 10.1016/j.jacc.2021.04.001
M3 - Review article
C2 - 34016266
AN - SCOPUS:85105549976
SN - 0735-1097
VL - 77
SP - 2531
EP - 2550
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
IS - 20
ER -