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Under this headline, we have selected two presentations given at the EAS Congress in Maastricht 2019. The genetic burden in CVD
This presentation was given as a lecture by Heribert Schunkert, Professor in Cardiology of the Technische Universitaet Munich, Director of the Cardiology Department and Medical Director of the German Heart Centre Munich. Professor Schunkert is a pioneer within genome-wide association studies (GWAS) in cardiovascular disease (CVD) with the initiation of the CardioGram genetics consortium. In his lecture, professor Schunkert first described monogenic disorders versus polygenic traits, and stated that the “common variant-common disease” hypothesis has proven right based on the accumulating evidence from a wealth of GWAS projects. Monogenic disorders as Familial Hypercholesterolemia is important for individual risk, however common variants have more profound effects at the population level, since all individuals carry a spectrum of risk alleles. At present 164 genomic loci associated with CVD have been identified and involves mechanisms within blood pressure, lipid metabolism, neovascularization, angiogenesis, inflammation, transcriptional regulation, nitric oxide signaling and vascular remodeling. Most interestingly, genome-wide polygenic risk scores identify individuals with risk equivalent to monogenic diseases like Familial Hypercholesterolemia. The near future will show whether polygenic risk scores have a place in risk prediction and prevention.