Polimorfismo do gene eNOS G894T (Glu298Asp) em pacientes sintomáticos para aterosclerose

• Ano de defesa: 2016
• Autor(a) principal: Campedelli, Fabio Lemos
• Orientador(a): Moura, Katia Karina Verolli de Oliveira
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Pontifícia Universidade Católica de Goiás
• Programa de Pós-Graduação: Programa de Pós-Graduação STRICTO SENSU em Genética
• Departamento: Escola de Ciências Agrárias e Biológicas::Curso de Biologia Bacharelado
• País: Brasil
• Palavras-chave em Português: aterosclerose, polimorfismo, eNOS, G894T, Glu298Asp, PCR.
• Palavras-chave em Inglês: atherosclerosis, polymorphism, eNOS, G894T, Glu298Asp, PCR.
• Área do conhecimento CNPq: CIENCIAS BIOLOGICAS::GENETICA
• Link de acesso: https://tede2.pucgoias.edu.br/handle/tede/3554

INTRODUCTION: Atherosclerotic disease (AD) with its cardiovascular complications is responsible for 17.5 million deaths a year, according to the World Health Organization (WHO). There is consensus that atherosclerosis involves multiple pathogenic processes initiated by endothelial dysfunction, with inflammation and vascular proliferation determining alterations in the matrix, with consequent formation of the atheromatous plaque and its clinical implications. Risk factors such as hypertension, diabetes mellitus, dyslipidemia and smoking are widely known. Currently genotyping, which is not directly related to these factors, is not accepted to estimate the risk of cardiovascular diseases, but strong evidence indicates several polymorphic genes as factors of risk and progression leading to complications of the disease. Among the genes involved, eNOS (endothelial nitric oxide synthase gene), which is responsible for the production of endothelial nitric oxide (NO, an important arterial vasodilator), when presented in polymorphic variation can determine production malfunction and predisposition to AD. OBJECTIVES: To analyze the G894T polymorphism of eNOS gene in groups of individuals diagnosed with atherosclerosis and in the control group. MATERIALS AND METHODS: 200 blood samples were collected from patients previously diagnosed with DA and 100 from the control group. The genotyping analysis for polymorphism of eNOS gene was determined by PCR. RESULTS: After analysis of polymorphism between the DA and control groups and association with variables such as gender, relation with smoking, smoking history and alcohol consumption, statistical difference were found in the distribution of the case and control groups (p = 0.0378) and in non-smoking patients (p = 0.0263). In the other associations no statistically significant difference was found. CONCLUSION: In the population studied, the frequency of the heterozygous genotype (GT) was much higher than in the other popualations (GG and TT) in both groups (case and control). The GG genotype showed greater susceptibility to AD. The association of GG genotype in nonsmokers also showed greater susceptibility. Gender, alcohol consumption, smoking and smoking history did not influence AD.