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颅内动脉瘤的遗传学

Genetics of Intracranial Aneurysms.

作者信息

Bakker Mark K, Ruigrok Ynte M

机构信息

University Medical Center Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, the Netherlands.

出版信息

Stroke. 2021 Aug;52(9):3004-3012. doi: 10.1161/STROKEAHA.120.032621. Epub 2021 Aug 17.

Abstract

Rupture of an intracranial aneurysm leads to aneurysmal subarachnoid hemorrhage, a severe type of stroke which is, in part, driven by genetic variation. In the past 10 years, genetic studies of IA have boosted the number of known genetic risk factors and improved our understanding of the disease. In this review, we provide an overview of the current status of the field and highlight the latest findings of family based, sequencing, and genome-wide association studies. We further describe opportunities of genetic analyses for understanding, prevention, and treatment of the disease.

摘要

颅内动脉瘤破裂会导致动脉瘤性蛛网膜下腔出血,这是一种严重的中风类型,部分由基因变异引起。在过去十年中,颅内动脉瘤的基因研究增加了已知基因风险因素的数量,并增进了我们对该疾病的理解。在本综述中,我们概述了该领域的现状,并强调了基于家系、测序和全基因组关联研究的最新发现。我们还进一步描述了基因分析在该疾病的理解、预防和治疗方面的机会。

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