Abstract
PURPOSE OF REVIEW: Atherosclerosis is a highly complex and heterogeneous disease characterized by inflammation and lipid accumulation in the arterial wall. Genetic studies to identify loci and genes predisposing to the disease have now been carried out in large human cohorts and the underlying pathways have been studied in animal models, primarily mice. This review summarizes recent findings relating to genetic contributions to the disease and implications for diagnosis and treatment. RECENT FINDINGS: Recent discoveries of genes contributing to all aspects of atherosclerosis and related diseases, including inflammation, lipid levels and oxidation, clonal hematopoiesis, hypertension, cardiac function, and aortic stenosis, are discussed. Altogether, several hundred contributing genes have been identified, and these are enabling a better understanding of the important pathways involved. These findings have also led to the development of improved diagnostic methods, including overall risk evaluation, and the identification of new therapeutic targets. SUMMARY: Genetics is proving to be a powerful approach to dissecting atherosclerosis. Genetic studies promise to revolutionize the diagnosis and treatment of the disease.