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常见复杂疾病的遗传学:冰岛视角

Genetics of common complex diseases: a view from Iceland.

作者信息

Arnar David O, Palsson Runolfur

机构信息

Division of Cardiology, Internal Medicine Services, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.

Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland; Division of Nephrology, Internal Medicine Services, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland.

出版信息

Eur J Intern Med. 2017 Jun;41:3-9. doi: 10.1016/j.ejim.2017.03.018. Epub 2017 Apr 20.

Abstract

In the past decade, large scale genotyping has led to discoveries of numerous sequence variants that confer increased risk of many common complex diseases. Interestingly, a substantial proportion of pioneering genetic work has originated from the small nation of Iceland and has been facilitated by an extensive genealogy database. We provide examples of relevant observations made so far in several major disease categories central to internal medicine practice. Some of these findings offer new mechanistic clues into the pathophysiology of common disorders and may suggest novel approaches in diagnosis and drug therapy. However, a number of unresolved issues remain that will be subject of future research, driven by recent advances in high-throughput sequencing of the genome. At the same time, we are ready to begin transforming the abundant existing genetic data into practical clinical knowledge with the aim of improving the delivery of medical care. The era of precision medicine has arrived.

摘要

在过去十年中,大规模基因分型已促使人们发现了众多序列变异,这些变异会增加许多常见复杂疾病的发病风险。有趣的是,相当一部分开创性的遗传学研究工作源自冰岛这个小国,且借助一个庞大的族谱数据库得以推进。我们列举了到目前为止在内科医学实践核心的几个主要疾病类别中所做的相关观察结果。其中一些发现为常见疾病的病理生理学提供了新的机制线索,并可能提示诊断和药物治疗的新方法。然而,仍有许多未解决的问题,这些问题将成为未来研究的主题,其驱动力来自基因组高通量测序的最新进展。与此同时,我们已准备好开始将丰富的现有基因数据转化为实用的临床知识,以改善医疗服务的提供。精准医学时代已经到来。

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