Toader Corneliu, Eva Lucian, Bratu Bogdan-Gabriel, Covache-Busuioc Razvan-Adrian, Costin Horia Petre, Dumitrascu David-Ioan, Glavan Luca-Andrei, Corlatescu Antonio Daniel, Ciurea Alexandru Vlad
Department of Neurosurgery, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Department of Vascular Neurosurgery, National Institute of Neurology and Neurovascular Diseases, 077160 Bucharest, Romania.
Brain Sci. 2023 Oct 12;13(10):1454. doi: 10.3390/brainsci13101454.
This review initiates by outlining the clinical relevance of IA, underlining the pressing need to comprehend its foundational elements. We delve into the assorted risk factors tied to IA, spotlighting both environmental and genetic influences. Additionally, we illuminate distinct genetic syndromes linked to a pronounced prevalence of intracranial aneurysms, underscoring the pivotal nature of genetics in this ailment's susceptibility. A detailed scrutiny of genome-wide association studies allows us to identify key genomic changes and locations associated with IA risk. We further detail the molecular and physiopathological dynamics instrumental in IA's evolution and escalation, with a focus on inflammation's role in affecting the vascular landscape. Wrapping up, we offer a glimpse into upcoming research directions and the promising horizons of personalized therapeutic strategies in IA intervention, emphasizing the central role of genetic insights. This thorough review solidifies genetics' cardinal role in IA, positioning it as a cornerstone resource for professionals in the realms of neurology and genomics.
本综述首先概述了颅内动脉瘤（IA）的临床相关性，强调了理解其基本要素的迫切需求。我们深入探讨了与IA相关的各种风险因素，突出了环境和遗传影响。此外，我们阐明了与颅内动脉瘤显著高发相关的特定遗传综合征，强调了遗传学在该疾病易感性中的关键性质。对全基因组关联研究的详细审查使我们能够确定与IA风险相关的关键基因组变化和位置。我们进一步详细阐述了在IA的发展和进展中起作用的分子和生理病理动态，重点是炎症在影响血管格局中的作用。最后，我们展望了IA干预中即将到来的研究方向和个性化治疗策略的广阔前景，强调了遗传见解的核心作用。这一全面综述巩固了遗传学在IA中的核心作用，将其定位为神经学和基因组学领域专业人员的基石资源。
