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[颅内动脉瘤与基因之间的关联]

[Association Between Intracranial Aneurysms and Genes].

作者信息

Nakatomi Hirofumi

机构信息

Department of Neurosurgery, Kyorin University School of Medicine.

出版信息

No Shinkei Geka. 2024 Sep;52(5):924-930. doi: 10.11477/mf.1436205000.

Abstract

Ruptured intracranial aneurysm(IA) leads to aneurysmal subarachnoid hemorrhage(aSAH), which is the most severe type of stroke. Besides age, sex, and alcohol consumption, family history is considered an important risk factor. Approximately 5% of the Japanese population is affected by unruptured cerebral aneurysms. However, their developmental processes and pathologies remain unclear. Familial cerebral aneurysms account for 10% of all cerebral aneurysm cases, and somatic gene mutations are believed to be involved in their development. This review summarizes the recent findings from family-based, genome-wide association, sequencing, and somatic gene mutation studies on IA.

摘要

颅内动脉瘤(IA)破裂会导致动脉瘤性蛛网膜下腔出血(aSAH),这是最严重的一种中风类型。除了年龄、性别和饮酒外,家族史被认为是一个重要的危险因素。日本约5%的人口患有未破裂的脑动脉瘤。然而,它们的发展过程和病理仍不清楚。家族性脑动脉瘤占所有脑动脉瘤病例的10%,体细胞基因突变被认为与它们的发展有关。这篇综述总结了基于家族、全基因组关联、测序和体细胞基因突变研究对IA的最新发现。

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