Department of Medicine, Yale New Haven Hospital, Yale University School of Medicine, New Haven, CT, USA.
Cardiology Section, Department of Medicine, Veterans Affairs Boston Healthcare System, Boston, MA, USA.
Curr Cardiol Rep. 2018 Mar 8;20(4):22. doi: 10.1007/s11886-018-0969-8.
Cardiovascular disease is a leading cause of morbidity and mortality worldwide and is the focus of extensive biomedical research. Large genetic consortia combining data from many traditional prospective cohort and ascertained case-control study designs have facilitated the discovery of genetic associations for a variety of cardiovascular diseases including diabetes, coronary artery disease, and hypertension. Biobank-based genetic studies offer an alternative whereby large populations are genotyped and linked to electronic health records.
Biobank sample sizes worldwide have surpassed even the largest genetic consortia and have yielded key insights into the genetic determinants of both common and rare cardiovascular phenotypes. Herein, we provide an overview of the largest genomic biobanks and discuss the relevant advantages and challenges inherent to the biobank model of cohort generation and genomic study design.
心血管疾病是世界范围内发病率和死亡率的主要原因,也是广泛的生物医学研究的重点。大型遗传联合组织结合了来自许多传统前瞻性队列和确定病例对照研究设计的数据,促进了多种心血管疾病(包括糖尿病、冠状动脉疾病和高血压)的遗传关联的发现。基于生物库的遗传研究提供了一种替代方法,通过对大量人群进行基因分型并与电子健康记录相关联。
全球生物库的样本量甚至超过了最大的遗传联合组织,并为常见和罕见心血管表型的遗传决定因素提供了重要的见解。在此,我们概述了最大的基因组生物库,并讨论了队列生成和基因组研究设计的生物库模型所固有的相关优势和挑战。