Role of Genetics in Preventive Cardiology: Focused on Dyslipidemia

• Published in: Korean circulation journal 2021, 51(11), , pp.899-907
• Main Author: Lee, Sang-Hak
• Format: Article
• Language: English
• Subjects: State of the Art Review; 내과학
• ISSN: 1738-5520; 1738-5555
• DOI: 10.4070/kcj.2021.0239

Although lipid-lowering therapy has become a mainstay in preventive cardiology, many people do not realize how individual's genetic information and current genetic knowledge can be used in clinical practice. Genetic testing is one of the methods to find etiology in monogenic or polygenic dyslipidemia. Pharmacogenetic data may provide guidance for selection of treatment-eligible patients and lipid-lowering therapeutics. In addition, recent progress in research regarding genetics, bioinformatics, and pharmacological platforms accelerated drug target discovery and drug development in the field of dyslipidemia and cardiovascular disease prevention. Dyslipidemia is a strong risk factor for cardiovascular disease as well as a major target for its prevention. Along with the progress in genetic research techniques and bioinformatics analysis, genetic knowledge helps manage individuals with dyslipidemia. Familial hypercholesterolemia, the most common monogenic lipid disorder, can be diagnosed clinically without confirming pathogenic mutations. However, it can be difficult to do so due to uncertain family history, and genetic testing is of vital importance in such cases. Conversely, recent studies have revealed that combination effect of rare and common variants is frequent in people with other extreme lipid phenotypes. Genetic characteristics are helpful for prediction and selection of patients with high risk for cardiovascular disease or poor response to lipid-lowering therapy. In the past decade, studies using new genetic techniques have identified novel associations among lipid metabolism-associated genes, intermediate lipid phenotypes, and cardiovascular health. Such findings shed light on new drug targets. With improvements in the platforms and processes for drug development, several recent clinical trials showed promising results regarding lipid control and potential cardiovascular disease prevention.