Genome-wide association studies (GWAS) aim to identify common genetic variants that are associated with traits and diseases. Since 2005, more than 5,000 GWAS have been published for almost as many traits. These studies have offered insights into the loci and genes underlying phenotypic traits, highlighted genetic correlations across traits and diseases and are beginning to demonstrate clinical utility by identifying individuals at increased risk for common diseases. GWAS have been widely utilised across cardiovascular diseases and associated phenotypic traits, with insights facilitated by multi-centre registry studies and large biobank datasets. In this review, we describe how GWAS have informed the genetic architecture of cardiovascular diseases and the insights they have provided into disease pathophysiology, using archetypal conditions for both common and rare disease. We also describe how biobank datasets can complement disease-specific studies - particularly for rarer cardiovascular diseases - and how findings from GWAS have the potential to impact on clinical care. Finally, we discuss the outstanding challenges facing research in this field and how they can be addressed.

中文翻译：

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心血管疾病的全基因组关联研究

全基因组关联研究 (GWAS) 旨在识别与性状和疾病相关的常见遗传变异。自 2005 年以来，已经针对几乎同样多的性状发布了 5,000 多个 GWAS。这些研究深入了解了表型性状的基因座和基因，强调了性状和疾病之间的遗传相关性，并开始通过识别常见疾病风险增加的个体来证明临床实用性。GWAS 已广泛应用于心血管疾病和相关表型特征，多中心注册研究和大型生物库数据集促进了洞察力。在这篇综述中，我们描述了 GWAS 如何为心血管疾病的遗传结构提供信息，以及它们为疾病病理生理学提供的见解，对常见病和罕见病使用原型条件。我们还描述了生物样本库数据集如何补充特定疾病的研究——尤其是罕见的心血管疾病——以及 GWAS 的发现如何可能影响临床护理。最后，我们讨论了该领域研究面临的突出挑战以及如何解决这些挑战。