Analysis of the associations of the T-786C and Glu298Asp polymorphisms of the eNOS gene as risk factors in the rupture of intracranial aneurysms

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dc.contributor.authorLopes, Marta Marques de Carvalho
dc.contributor.authorRojas, Hugo Alberto
dc.contributor.authorPolizzi, Luiza Franklin
dc.contributor.authorMagalhaes, Kenia Cristina S. F.
dc.contributor.authorSandrim, Valeria Cristina [UNESP]
dc.contributor.authorDellaretti, Marcos
dc.contributor.authorRubatino, Fernando Victor Martins
dc.contributor.authorSimoes, Renata Toscano
dc.contributor.institutionFac Santa Casa BH FSCBH
dc.contributor.institutionSanta Casa Belo Horizonte Hosp
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)
dc.contributor.institutionUniv Presidente Antonio Carlos
dc.date.accessioned2022-11-30T13:43:04Z
dc.date.available2022-11-30T13:43:04Z
dc.date.issued2022-02-01
dc.description.abstractThe mechanisms involved in aneurysmal etiology are complex and only partially understood. Genetic risk factors have already been related to the process of aneurysm rupture. Among the genetic factors, the T-786C and Glu298Asp polymorphisms of the eNOS gene have great clinical relevance, as they can affect the bioavailability of nitric oxide for the cerebrovascular system. Objective: To evaluate the relationship between eNOS T-786C and Glu298Asp polymorphisms and the aneurysm pathogenesis of patients seen in the Neurosurgery Department of Santa Casa de Belo Horizonte, as well as to compare them with sociodemographic characteristics and risk factors. Methods: A total of 211 whole blood samples were collected from patients with cerebral aneurysms, 160 with ruptured aneurysms, 51 with unruptured aneurysms and 215 controls. After DNA extraction, genotyping was performed using the PCR-RFLP technique. Allele and genotype frequencies were obtained using the GENEPOP 4.2 software, and statistical analysis was performed using the GraphPad Prism 5.0 program and RStudio version 1.4. Results: Age, female sex, smoking and small diameter of the aneurysms were associated with aneurysm development and rupture in the study population. The CC genotype of the T-786C polymorphism was associated with unruptured aneurysms with a diameter >12 mm. Conclusion: Age, female sex and smoking were associated with rupture. This study revealed that the CC mutant genotype of the eNOS gene T-786C polymorphism was associated with unruptured intracranial aneurysms larger than 12 mm in our study population, revealing a new association.en
dc.description.affiliationFac Santa Casa BH FSCBH, Mol Biol & Biomarkers Lab, Programa Posgrad Stricto Sensu Med Biomed, Belo Horizonte, MG, Brazil
dc.description.affiliationSanta Casa Belo Horizonte Hosp, Dept Neurosurg, Belo Horizonte, MG, Brazil
dc.description.affiliationUniv Estadual Paulista UNESP, Inst Biosci Botucatu, Dept Pharmacol, Sao Paulo, Brazil
dc.description.affiliationUniv Presidente Antonio Carlos, Grp Pesquisa Interdisciplinar Saude Colet GPISC, Barbacena, Brazil
dc.description.affiliationUnespUniv Estadual Paulista UNESP, Inst Biosci Botucatu, Dept Pharmacol, Sao Paulo, Brazil
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG)
dc.description.sponsorshipIdFAPEMIG: FAPEMIG-APQ-02010-14
dc.format.extent7
dc.identifierhttp://dx.doi.org/10.1016/j.mgene.2021.101003
dc.identifier.citationMeta Gene. Amsterdam: Elsevier, v. 31, 7 p., 2022.
dc.identifier.doi10.1016/j.mgene.2021.101003
dc.identifier.issn2214-5400
dc.identifier.urihttp://hdl.handle.net/11449/237727
dc.identifier.wosWOS:000792756700007
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofMeta Gene
dc.sourceWeb of Science
dc.subjectCerebral aneurysms
dc.subjectRisk factors
dc.subjectPolymorphisms of the eNOS gene
dc.titleAnalysis of the associations of the T-786C and Glu298Asp polymorphisms of the eNOS gene as risk factors in the rupture of intracranial aneurysmsen
dc.typeArtigo
dcterms.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dcterms.rightsHolderElsevier B.V.

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