Related Experiment Video
Updated: Mar 2, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Genetic testing in polygenic diseases : Atrial fibrillation, arterial hypertension and coronary artery disease]
T Trenkwalder1, T Kessler2, H Schunkert1,3
1Deutsches Herzzentrum München, Klinik für Herz- und Kreislauferkrankungen, Technische Universität München, Lazarettstr. 36, 80636, München, Deutschland.
Abstract:
Genetic testing plays an increasing role in cardiovascular medicine. Advances in technology and the development of novel and more affordable (high throughput) methods have led to the identification of genetic risk factors in research and clinical practice. Also, this progress has simplified the screening of patients and individuals at risk. In case of rare monogenic diseases, diagnostics, risk stratification, and, in some cases, treatment decisions have become easier. For common, polygenic cardiovascular diseases, the situation is more complex due to interaction of modifiable external risk factors and nonmodifiable factors like genetic predisposition. Over the last few years, it has been shown that multiple genes are involved in the pathophysiology of these cardiovascular diseases rather than one single gene. In the following article, we give an overview of the genetic risk factors in polygenic cardiovascular diseases as atrial fibrillation, arterial hypertension and coronary artery disease. Furthermore, we aim to illustrate in which cases genetic testing is recommended in these diseases.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Dysrhythmias V: Evaluating Dysrhythmias
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...

