Heribert Schunkert, MD is Professor of Cardiology of the Technische Universitaet Munich, Director of the Cardiology Department and Medical Director of the German Heart Centre Munich. He completed a research fellowship at Brigham and Women,s Hospital, Boston, USA and clinical fellowships at Beth Israel Hospital and at the Universitaetsklinikum, Regensburg and the Massachusetts General Hospital, Boston, USA. From 2002-2012 Prof. Schunkert was Director of Internal Medicine and Cardiology at the University of Luebeck. He conducts research in the molecular genetics of multifactorial cardiovascular disease.He coordinates several EU- and BMBF-sponsored projects as well as the European-American Leducq network CADgenomics to identify the genetic roots of myocardial infarction. He served in the Board of Directors of the German Societies of Hypertension (DHZ) as well as Cardiology (DGK). He is the author of more than 500 publications in international journals.
Monday 28 May 09:00
The genetic burden in CVD
Cardiovascular disease is multifactorial with a diversity of underlying causative factors. While clinical, biochemical, and imaging parameters have been used to stratify cardiovascular risk and, potentially, to tailor therapy, further insights into the pathophysiology of atherosclerosis is now needed to improve preventive strategies. Consideration of genetic susceptibility to cardiovascular disease suggests a way forward.
Methodological advances together with collaborative efforts have improved understanding of the heritability of coronary artery disease. There is now evidence that genetic susceptibility accounts for a proportion of the risk for coronary artery disease, as demonstrated in reproducible findings from genome-wide association studies (GWAS) in extremely large cohorts. GWAS have identified over 50 genetic variants associated with coronary artery disease and myocardial infarction; almost all of these loci are commonly found in European populations. While there are rare variants with a strong impact on disease risk, in the majority of cases, polygenic effects, i.e. the combined small effects of hundreds of thousands of variants are more typical.
Understanding of the biology and pathways which mediate the effects of these loci, and the interplay between multiple genes and non-genetic factors, such as lifestyle factors, lags behind. Improved elucidation of the translation of human genetics to functional biology is fundamental to the development of a simple, clinically meaningful genetic risk score which would provide complementary prognostic information, with the ultimate aim of providing personalized management of coronary artery disease risk and treatment strategies.
van der Laan SW, Siemelink MA, Haitjema S, Foroughi Asl H, Perisic L, Mokry M, van Setten J, Malik R, Dichgans M, Worrall BB; METASTROKE Collaboration of the International Stroke Genetics Consortium, Samani NJ, Schunkert H, Erdmann J, Hedin U, Paulsson-Berne G, Björkegrenn JLM, de Borst GJ, Asselbergs FW, den Ruijter FW, de Bakker PIW, Pasterkamp G. Genetic susceptibility loci for cardiovascular disease and their impact on atherosclerotic plaques. Circ Genom Precis Med 2018;11(9):e002115.
Vilne B, Schunkert H. Integrating genes affecting coronary artery disease in functional networks by multi-OMICs pproach. Front Cardiovasc Med 2018;5:89.
Li Y, Wang DW, Chen Y, Chen C, Guo J, Zhang S, Sun Z, Ding H, Yao Y, Zhou L, Xu K, Song C, Yang F, Zhao B, Yan H, Wang WJ, Wu C, Lu X, Yang X, Dong J, Zheng G, Tian S, Cui Y, Jin L, Liu G, Cui H, Wang S, Jiang F, Wang C, Erdmann J, Zeng L, Huang S, Zhong J, Ma Y, Chen W, Sun J, Lei W, Chen S, Rao S, Gu D, Schunkert H, Tian XL. Genome-wide association and functional studies identify SCML4 and THSD7A as novel susceptibility genes for coronary artery disease. Arterioscler Thromb Vasc Biol 2018;38:964-75.
Schunkert H. Genetics of CVD in 2017: Expanding the spectrum of CVD genetics. Nat Rev Cardiol 2018;15:77-8.