Polimorfismo da região promotora do gene NOS3 em idosos com síndrome metabólica

Trabalho de Conclusão de Curso (graduação)—Universidade de Brasília, Faculdade de Ceilândia, 2019.A síndrome metabólica é uma doença crônica não transmissível e um desafio para a saúde pública, caracterizada por fatores de risco que auxiliam no desenvolvimento de doenças cardiovasculares, contribuindo para diferentes condições clínicas. O óxido nítrico (NO) é sintetizado no endotélio vascular pelo óxido nítrico sintase (NOS3), localizado no braço longo do cromossomo 7q36.1 é um fator importante para regulação da pressão arterial por sua função vasodilatadora. Com isto, o objetivo deste estudo foi verificar a frequência do polimorfismo na região promotora T-786C do gene NOS3, em uma amostra populacional de indivíduos brasileiros portadores da síndrome metabólica. O trabalho foi delineado e realizado como estudo observacional, descritivo do tipo caso-controle. Foram padronizadas e executadas as análises moleculares do polimorfismo do gene NOS3, caracterizando 94 pacientes divididos em grupo caso e controle para hipertensão arterial e diabetes mellitus e 98 pacientes para osteoporose. O nível de significância adotado foi de 5%. Não foi apontada diferença estatística entre os grupos caso e controle na associação genotípica/alélica do polimorfismo. Os resultados apontaram que o polimorfismo na região promotora T-786C do gene NOS3 não está associado a hipertensão, diabetes mellitus e osteoporose nas participantes do estudo, indicando que este polimorfismo não constitui um fator de risco significativo para tais condições clínicas. Estudos encontram dificuldade em correlacionar os diferentes polimorfismos do gene NOS3, sua ocorrência, frequência e desenvolvimento destas condições clínicas pela complexidade e os diversos fatores de risco que a síndrome metabólica apresenta.Metabolic syndrome is a chronic noncommunicable disease and a public health challenge characterized by risk factors that assist in the development of cardiovascular diseases contributing to different clinical conditions. Nitric oxide (NO) is synthesized in the vascular endothelium by nitric oxide synthase (NOS3) located on the long arm of chromosome 7q36.1 and is an important factor in regulating blood pressure by its vasodilatory function. Thus, the aim of this study was to verify the frequency of polymorphism in the T-786C promoter region of the NOS3 gene in a population sample of Brazilian individuals with metabolic syndrome. The study was designed and conducted as an observational, descriptive case-control study. Molecular analyzes of the NOS3 gene polymorphism were standardized and performed, characterizing 94 patients divided into case and control group for hypertension and diabetes mellitus and 98 patients for osteoporosis. The adopted significance level was 5%. No statistical difference was found between the case and control groups in the genotypic/allelic association of polymorphism. The results showed that polymorphism in the T-786C promoter region of the NOS3 gene is not associated with hypertension, diabetes mellitus and osteoporosis in the study participants, indicating that this polymorphism is not a significant risk factor for such clinical conditions. Studies find it difficult to correlate the different polymorphisms of the NOS3 gene, and the occurrence, frequency and development of these clinical conditions by the complexity and the various risk factors that the metabolic syndrome presents

Prevalência de dislipidemia em adultos de meia-idade com polimorfismo do gene NOS3 e baixa aptidão cardiorrespiratória

OBJETIVO: Analisar a influência da associação dos polimorfismos do gene da sintase do óxido nítrico endotelial (NOS3) para as posições -786T>C, Glu298Asp e íntron 4b/a e a aptidão cardiorrespiratória sobre as concentrações de nitrito/nitrato, pressão arterial, perfil lipídico e prevalência de doenças cardiometabólicas em adultos. SUJEITOS E MÉTODOS: Noventa e duas pessoas foram divididas de acordo com o genótipo: não polimórficas (NP) e polimórficas (P). Posteriormente, foram subdivididas pela aptidão cardiorrespiratória associada ao genótipo: alta (ANP e AP) ou baixa (BNP e BP). RESULTADOS: Os indivíduos que apresentavam polimorfismo para as posições Glu298Asp+Íntron 4b/a e Glu298Asp+-786T>C e baixa aptidão cardiorrespiratória apresentaram maiores valores de colesterol total e maior prevalência de dislipidemia. CONCLUSÃO: Nossos dados demonstram que os polimorfismos do gene da NOS3 para essas duas associações influenciam os níveis de colesterol plasmático, e essa associação foi mais claramente observada quando os indivíduos apresentavam menor nível de aptidão cardiorrespiratória.OBJECTIVE: To evaluate the influence of the interaction between endothelial nitric oxide synthase gene (NOS3) polymorphisms at positions -786T>C, Glu298Asp and intron 4b/a, and cardiorespiratory fitness on plasma nitrite/nitrate levels, blood pressure, lipid profile, and prevalence of cardiometabolic disorders. SUBJECTS and METHODS: Ninety-two volunteers were genotyped for NOS3 polymorphisms at positions (-786T>C and Glu298Asp) and (intron 4b/a) and divided according to the genotype: non-polymorphic (NP) and polymorphic (P). After that, they were subdivided according to the cardiorespiratory fitness associated with genotype: high (HNP and HP) and low (LNP and LP). RESULTS: The subjects with polymorphism for the interactions at positions Glu298Asp + intron 4b/a, and Glu298Asp+-786T>C showed the highest values in total cholesterol, as well as dyslipidemia. CONCLUSION: Our findings show that NOS3 gene polymorphisms at positions -786T>C, Glu298Asp, and intron 4b/a exert negative effects on the lipid profile compared with those who do not carry polymorphisms.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP

Prevalence Of Dyslipidemia In Middle-aged Adults With Nos3 Gene Polymorphism And Low Cardiorespiratory Fitness [prevalência De Dislipidemia Em Adultos De Meia-idade Com Polimorfismo Do Gene Nos3 E Baixa Aptidão Cardiorrespiratória]

Objective:To evaluate the influence of the interaction between endothelial nitric oxide synthase gene (NOS3) polymorphisms at positions -786T>C, Glu298Asp and intron 4b/a, and cardiorespiratory fitness on plasma nitrite/nitrate levels, blood pressure, lipid profile, and prevalence of cardiometabolic disorders. Subjects and methods: Ninety-two volunteers were genotyped for NOS3 polymorphisms at positions (-786T>C and Glu298Asp) and (intron 4b/a) and divided according to the genotype: non-polymorphic (NP) and polymorphic (P). After that, they were subdivided according to the cardiorespiratory fitness associated with genotype: high (HNP and HP) and low (LNP and LP). Results: The subjects with polymorphism for the interactions at positions Glu298Asp + intron 4b/a, and Glu298Asp+-786T>C showed the highest values in total cholesterol, as well as dyslipidemia. 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