For nearly 15 years, genome-wide association studies (GWASs) have yielded many new insights into cardiovascular disease. These studies have disproportionately evaluated European and, to a lesser extent, Asian cohorts, limiting discovery opportunities. Genome-wide association studies of individuals of African ancestry typically living in the US are uncommon, yet they have yielded high-impact observations, including the discovery that PCSK9 loss-of-function mutations protect against coronary artery disease.¹ Genome-wide association studies of individuals living in Africa are even rarer, representing approximately 0.4% of GWAS participants.² In this issue of JAMA Cardiology, Machipisa and colleagues³ describe a GWAS of rheumatic heart disease (RHD) in Africa, where the prevalence of RHD is 10-fold greater than in North America and Western Europe. This study found an association between an important chronic disease and genetic susceptibility loci in African individuals, provides ancestry-based disease associations, and emphasizes the need for a more robust genetic architecture to promote future genetic discovery.

近 15 年来，全基因组关联研究 (GWAS) 为心血管疾病提供了许多新见解。这些研究不成比例地评估了欧洲人群，在较小程度上对亚洲人群进行了评估，从而限制了发现机会。对通常居住在美国的非洲血统个体进行的全基因组关联研究并不常见，但它们已经产生了具有重大影响的观察结果，包括发现PCSK9功能丧失突变可预防冠状动脉疾病。¹对生活在非洲的个体进行的全基因组关联研究更为罕见，约占 GWAS 参与者的 0.4%。²在本期JAMA Cardiology 中，Machipisa 及其同事³描述了非洲风湿性心脏病 (RHD) 的 GWAS，其中 RHD 的患病率是北美和西欧的 10 倍。这项研究发现了一种重要的慢性病与非洲个体遗传易感性位点之间的关联，提供了基于血统的疾病关联，并强调需要更强大的遗传结构来促进未来的基因发现。