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. 2023 May;165(5):1261-1267.
doi: 10.1007/s00701-023-05552-3. Epub 2023 Mar 18.

Endothelial nitric oxide synthase rs1799983 gene polymorphism is associated with the risk of developing intracranial aneurysm

Ricardo Usategui-Martín  1   2   3 , Paloma Jiménez-Arribas  4 , Carmen Sakas-Gandullo  2 , Rogelio González-Sarmiento  2   3   5 , Carlos A Rodríguez-Arias  6
Affiliations

Endothelial nitric oxide synthase rs1799983 gene polymorphism is associated with the risk of developing intracranial aneurysm

Ricardo Usategui-Martín et al. Acta Neurochir (Wien). 2023 May.

Abstract

Purpose: 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.

Subjects and methods: 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.

Results: 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.

Conclusion: 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.

Keywords: Aneurysmal subarachnoid hemorrhage; Endothelial nitric oxide synthase; Intracranial aneurysm; Polymorphism; eNOS.

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