• World Neurosurg · Oct 2024

    Review

    Genetic Insights into the Enigma of Family Intracranial Aneurysms.

    • Alimasi Abulizi, Riqing Su, Pengfei Wu, Xiaojiang Cheng, Maimaitili Aisha, and Zengliang Wang.
    • State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia, Xinjiang Medical University, Urumqi 830000, China; Department of Neurosurgery, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830000, China.
    • World Neurosurg. 2024 Oct 29.

    AbstractFamilial intracranial aneurysms (FIAs) are distinguished by significant genetic predisposition, leading to clustering of cases within families and heightening the risk of subarachnoid hemorrhage (SAH) following aneurysm rupture. This review analyzes recent advancements in understanding the genetic and molecular mechanisms underlying FIAs, focusing on key genetic risk factors and environmental influences. We explore cutting-edge genome-wide association studies (GWAS) and next-generation sequencing (NGS) technologies, which have identified susceptibility genes such as ANGPTL6, PPIL4, and NOTCH3 as crucial contributors to FIA pathophysiology. By incorporating findings from multi-omics and gene-editing research, we highlight the potential for improved screening, preventive strategies, and therapeutic approaches. These insights are essential to advancing precision medicine in managing FIAs, paving the way for collaborative research and targeted interventions.Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.

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