Marta Marques de Carvalho Lopes , Hugo Alberto Rojas , Luiza Franklin Polizzi , Kênia Cristina S.F. Magalhães , Valéria Cristina Sandrim , Marcos Dellaretti , Fernando Victor Martins Rubatino , Renata Toscano Simões
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引用次数: 0
Abstract
Summary
The 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.
动脉瘤的发病机制是复杂的,只是部分了解。遗传风险因素已经与动脉瘤破裂的过程有关。在遗传因素中,eNOS基因的T-786C和Glu298Asp多态性可影响一氧化氮在脑血管系统的生物利用度,具有重要的临床意义。目的探讨eNOS T-786C和Glu298Asp多态性与Santa Casa de Belo Horizonte神经外科患者动脉瘤发病的关系,并与社会人口学特征及危险因素进行比较。方法采集脑动脉瘤患者全血211份,动脉瘤破裂者160份,未破裂者51份,对照组215份。提取DNA后,采用PCR-RFLP技术进行基因分型。使用GENEPOP 4.2软件获取等位基因频率和基因型频率,使用GraphPad Prism 5.0程序和RStudio 1.4版本进行统计分析。结果在研究人群中,年龄、女性、吸烟和动脉瘤直径小与动脉瘤的发生和破裂有关。T-786C多态性CC基因型与直径12mm的未破裂动脉瘤相关。结论年龄、女性、吸烟与动脉瘤破裂相关。本研究揭示了eNOS基因T-786C多态性的CC突变基因型与我们研究人群中大于12mm的未破裂颅内动脉瘤相关,揭示了一种新的关联。
Meta GeneBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.10
自引率
0.00%
发文量
20
期刊介绍:
Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.