Polimorfismo RsaI do gene receptor beta de estrógeno em pacientes com aterosclerose

• Ano de defesa: 2019
• Autor(a) principal: Gianotti, Lilian Castilho de Araújo
• Orientador(a): Moura, Katia Karina Verolli de Oliveira
• Banca de defesa: Reis, Paulo Roberto de Melo , Silva, Rita de Cassia Pereira da Costa e
• 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. Receptor beta de estrógeno. RsaI.
• Palavras-chave em Inglês: Atherosclerosis. Polymorphism. Estrogen receptor beta. RsaI.
• Área do conhecimento CNPq: CIENCIAS BIOLOGICAS::GENETICA
• Link de acesso: https://tede2.pucgoias.edu.br/handle/tede/4342

Cardiovascular diseases, especially atherosclerosis, are the noncommunicable diseases with the highest mortality rates worldwide, even in countries where people have low and middle income. They may be worldwide, even in countries where people have low inactivity, frequente use of tobacco, ingestion of high fat foods, high blood pressure, high levels of low density cholesterol (LDLc), diabetes mellitus, obesity. Unmodifiable of genetic factors are age, family history, and gender. Atherosclerotic plaque formation occurs slowly, due to on inflammatory and immunological process where there are vascular alterations of endotelial cells, from cells, accumulation of modified lipids, calcifications, thrombus formation, presence of inflammatory markers, genetic componentes such as ApoE and several types of polymorphisms such as the estrogen receptor gene. In general, the development of atherosclerosis begins in early childhood, but symptoms begin to appear from middle age. The estrogen receptor is expressed in various tissus and is associated to the development of hypertension and ventricular wall thickening in women who are hypertensive, and with male and female infertility. Is has two polymorphisms, alpha and beta, where the malfunctioning or reduced copy number of this second is directly linked to the development of atherosclerosis. Although the presence of polymorphism (G1082A) does not alter its protein, it can alter mRNA and influence its expression. This study aimed to analyze the estrogen receptor beta (REß) polymorphism in patientes with atherosclerosis and to verify if the presence of this type of polymorphism is related to its development. Whole blood from 55 atherosclerosis patients who were diagnosed by imaging (case group) and 46 patients without the disease (control group) from patients at Angiogyn Clinic and the Clinical Analysis Laboratory (LAC) of PUC Goiás, in the municipality of Goiânia. The samples were submitted to PCR to verify the presence of the polymorphism. It was observed that the presence of AG/AA polymorphism was 9,5 times higher than the GG genotype (p<0,0001) in the patients than in the control. When comparing the polymorphism and gender of the patients analyzed, they also generated significant data regarding the AG/AA genotypes compared to the GG genotype