Usategui-Martín Ricardo, Jiménez-Arribas Paloma, Sakas-Gandullo Carmen, González-Sarmiento Rogelio, Rodríguez-Arias Carlos A
Department of Cell Biology, Genetics, Histology and Pharmacology, University of Valladolid, Valladolid, Spain.
Molecular Medicine Unit, Department of Medicine, University of Salamanca, Salamanca, Spain.
Acta Neurochir (Wien). 2023 May;165(5):1261-1267. doi: 10.1007/s00701-023-05552-3. Epub 2023 Mar 18.
The intracranial aneurysm (IA) rupture is associated with a subarachnoid hemorrhage. One third of patients die, and one third remain depend for daily activities. Genetic factors are crucial in the formation and clinical evolution of IAs. Multiple loci have been associated with AIs, much of them implicating multiple pathways related to vascular endothelial maintenance and extracellular matrix integrity. Thus, the aim of our study was to characterize whether polymorphisms in genes implicated in the vascular endothelial maintenance could modify the risk of developing IAs.
We have studied 176 patients with IA recruited in the Service of Neurosurgery at the University Hospital of Valladolid (Spain) and a control group if 150 sex-matched healthy subjects. Clinical variables were collected from each patient. We have analyzed VEGFA rs833061, VEGFR2 rs2071559, endothelin rs5370, endoglin rs3739817, and eNOS rs1799983 polymorphisms.
Our results showed that allele T of the eNOS rs1799983 polymorphism is correlated with decreased risk of developing the disease; thus, allele G of the eNOS rs1799983 polymorphism increased the risk of developing IA.
The association of eNOS rs1799983 polymorphism with the risk to suffer IA reinforces the hypothesis that genetic variants in eNOS gene could be crucial in the pathogenesis of IA.
颅内动脉瘤（IA）破裂与蛛网膜下腔出血相关。三分之一的患者死亡，三分之一的患者日常生活仍需依赖他人。遗传因素在IA的形成和临床演变中至关重要。多个基因座与IA相关，其中许多涉及与血管内皮维持和细胞外基质完整性相关的多种途径。因此，我们研究的目的是确定参与血管内皮维持的基因中的多态性是否会改变发生IA的风险。
我们研究了西班牙巴利亚多利德大学医院神经外科收治的176例IA患者以及150名性别匹配的健康对照者组成的对照组。收集了每位患者的临床变量。我们分析了VEGFA rs833061、VEGFR2 rs2071559、内皮素rs5370、内皮糖蛋白rs3739817和eNOS rs1799983多态性。
我们的结果表明，eNOS rs1799983多态性的T等位基因与患病风险降低相关；因此，eNOS rs1799983多态性的G等位基因增加了发生IA的风险。
eNOS rs1799983多态性与患IA风险的关联强化了以下假设，即eNOS基因中的遗传变异可能在IA的发病机制中起关键作用。
