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

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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.

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Acknowledgements

We thank Ms. Nieves Mateos for technical help.

Funding

This work was supported by grants from Instituto de Salud Carlos III (Ministry of Economy and Competitiveness) (ISC IIII-FEDER: PI10/00219 and PI13/01741).

Author information

Authors and Affiliations

  1. Department of Cell Biology, Genetics, Histology and Pharmacology, University of Valladolid, Valladolid, Spain

    Ricardo Usategui-Martín

  2. Molecular Medicine Unit, Department of Medicine, University of Salamanca, Salamanca, Spain

    Ricardo Usategui-Martín, Carmen Sakas-Gandullo & Rogelio González-Sarmiento

  3. Salamanca Institute of Biomedical Research (IBSAL), University Hospital of Salamanca-University of Salamanca, Salamanca, Spain

    Ricardo Usategui-Martín & Rogelio González-Sarmiento

  4. Neurosurgical Department, University Hospital of Valladolid, Valladolid, Spain

    Paloma Jiménez-Arribas & Carlos A. Rodríguez-Arias

  5. Institute of Molecular and Cellular Biology of Cancer (IBMCC), University of Salamanca-CSIC, Salamanca, Spain

    Rogelio González-Sarmiento

Authors
  1. Ricardo Usategui-Martín
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  2. Paloma Jiménez-Arribas
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Corresponding author

Correspondence to Carlos A. Rodríguez-Arias.

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Ethics approval

The experimental protocol was in accordance with the Declaration of Helsinki (2008) of the World Medical Association, approved by the University Hospital Clínico Hospital of Valladolid Ethics Committee (CINV 15–64) and in compliance with the Spanish data protection law (LO 15/1999) and specifications (RD 1720/2007). All who accepted to participate in the study signed a written consent.

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Usategui-Martín, R., Jiménez-Arribas, P., Sakas-Gandullo, C. et al. Endothelial nitric oxide synthase rs1799983 gene polymorphism is associated with the risk of developing intracranial aneurysm. Acta Neurochir 165, 1261–1267 (2023). https://doi.org/10.1007/s00701-023-05552-3

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  • DOI: https://doi.org/10.1007/s00701-023-05552-3

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