Abstract
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.