Abstract
Coronary artery disease is one of the leading causes of death in the world, and as such, it is one of the diseases for which genetic analyses have been actively conducted. In the early days, analyses of families with the aggregation of early-onset myocardial infarction, such as those with familial hypercholesterolemia, was the main focus, but since the practical application of genome-wide association study, the analysis of coronary artery disease as a common disease has progressed, and many disease-susceptibility loci have been identified. In addition, with the advancement of technologies, it has become possible to identify relatively rare genetic variants in a population-based analysis. These advances have not only revealed the detailed disease mechanisms but have also enabled the quantification of individual genetic risk and the development of new therapeutic agents. In this paper, some of those items, which are important to know in the current genetic analyses for coronary artery disease, are discussed.
Highlights
Coronary artery disease (CAD) causes myocardial ischemia due to narrowing or blockage of the coronary arteries that feed the heart based on atherosclerotic predisposition, leading to myocardial infarction (MI)
In contrast to monogenic disorders, disease-associated single nucleotide polymorphisms (SNPs) detected by genome-wide association study (GWAS) are often located in non-protein-coding regions, and the presence of linkage disequilibrium (LD) blocks means that lead SNPs are not always the cause of the disease
This paper showed that the hazard ratio of developing coronary events in the top 20% of the genetic risk score (GRS) group was similar to that in the group of patients with unfavorable lifestyle habits
Summary
Coronary artery disease is one of the leading causes of death in the world, and as such, it is one of the diseases for which genetic analyses have been actively conducted. With the advancement of technologies, it has become possible to identify relatively rare genetic variants in a population-based analysis. These advances have revealed the detailed disease mechanisms but have enabled the quantification of individual genetic risk and the development of new therapeutic agents. Some of those items, which are important to know in the current genetic analyses for coronary artery disease, are discussed
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