Miyazawa Kazuo, Ito Kaoru
Laboratory for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Front Genet. 2021 Nov 22;12:766485. doi: 10.3389/fgene.2021.766485. eCollection 2021.
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.
冠状动脉疾病是全球主要死因之一，因此也是积极开展基因分析的疾病之一。早期，主要关注早发心肌梗死聚集的家族分析，如家族性高胆固醇血症患者的家族，但自全基因组关联研究实际应用以来，作为常见疾病的冠状动脉疾病分析取得了进展，许多疾病易感位点已被识别。此外，随着技术进步，在基于人群的分析中识别相对罕见的基因变异已成为可能。这些进展不仅揭示了详细的疾病机制，还能够对个体遗传风险进行量化，并开发新的治疗药物。本文将讨论当前冠状动脉疾病基因分析中一些需要了解的重要内容。
