Arnar David O, Andersen Karl, Thorgeirsson Gudmundur
a Department of Medicine, Division of Cardiology , Landspitali - The National University Hospital of Iceland , Reykjavik , Iceland.
b Faculty of Medicine , School of Health Sciences, University of Iceland , Reykjavik , Iceland.
Scand Cardiovasc J. 2016 Oct-Dec;50(5-6):260-265. doi: 10.1080/14017431.2016.1230679. Epub 2016 Sep 15.
In the past 10 years, large-scale genotyping has led to discoveries of sequence variants that confer the risk of many common and complex diseases. Due to pioneering work done, in large part, at deCODE genetics in Reykjavik, discoveries from Iceland have contributed substantially to key advances in population genetics. In cardiovascular medicine, a number of discoveries have been made, uncovering sequence variants that are associated with disorders such as coronary artery disease, atrial fibrillation, sick sinus syndrome, peripheral vascular disease, aortic aneurysm, and ischemic stroke. Thus, a wealth of genetic data has been accumulated in cardiology and has enhanced our understanding of a number of diseases. In many cases, these findings offer new mechanistic clues into the pathophysiology of complex cardiovascular diseases and may point toward novel therapeutic approaches in drug therapy. The next important step is to begin to transform these findings into practical clinical knowledge with the aim of improving the delivery of cardiovascular health care.
在过去十年中,大规模基因分型已促使人们发现了一些序列变异,这些变异会带来许多常见复杂疾病的患病风险。由于大部分开创性工作是在雷克雅未克的 deCODE 遗传学公司完成的,来自冰岛的发现为群体遗传学的关键进展做出了重大贡献。在心血管医学领域,已经有了一些发现,揭示了与诸如冠状动脉疾病、心房颤动、病态窦房结综合征、外周血管疾病、主动脉瘤和缺血性中风等疾病相关的序列变异。因此,心脏病学领域已经积累了大量的遗传数据,增进了我们对多种疾病的了解。在许多情况下,这些发现为复杂心血管疾病的病理生理学提供了新的机制线索,并可能指向药物治疗中的新治疗方法。下一个重要步骤是开始将这些发现转化为实用的临床知识,以期改善心血管保健服务。