Coronary artery disease (CAD) poses a substantial threat to global health, leading to significant morbidity and mortality worldwide. It has a significant genetic component that has been studied through genome-wide association studies (GWAS) over the past 17 years. These studies have made progress with larger sample sizes, diverse ancestral backgrounds, and the discovery of multiple genomic regions related to CAD risk. In this review, we provide a comprehensive overview of CAD GWAS, including information about the genetic makeup of the disease and the importance of ethnic diversity in these studies. We also discuss challenges of identifying causal genes and variants within GWAS loci with a focus on non-coding regions. Additionally, we highlight tissues and cell types relevant to CAD, and discuss clinical implications of GWAS findings including polygenic risk scores, sex-specific differences in CAD genetics, ethnical aspects of personalized interventions, and GWAS guided drug development.

中文翻译：

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GWAS 突破：绘制从一个基因座到 393 个重要冠状动脉疾病关联的旅程


冠状动脉疾病 （CAD） 对全球健康构成重大威胁，导致全球发病率和死亡率高。它具有重要的遗传成分，在过去 17 年中通过全基因组关联研究 （GWAS） 进行了研究。这些研究在更大的样本量、不同的祖先背景以及发现与 CAD 风险相关的多个基因组区域方面取得了进展。在本综述中，我们提供了 CAD GHAS 的全面概述，包括有关该疾病的遗传组成和种族多样性在这些研究中的重要性的信息。我们还讨论了在 GWAS 基因座中鉴定致病基因和变异的挑战，重点是非编码区域。此外，我们重点介绍了与 CAD 相关的组织和细胞类型，并讨论了 GWAS 发现的临床意义，包括多基因风险评分、CAD 遗传学的性别特异性差异、个性化干预的种族方面以及 GWAS 指导的药物开发。