Associação do polimorfismo G894T do gene eNOS com glaucoma primário de ângulo aberto

• Ano de defesa: 2017
• Autor(a) principal: Almeida Filho, Eduardo Eustáquio de
• Orientador(a): Moura, Katia Karina Verolli de Oliveira
• Banca de defesa: Reis, Paulo Roberto de Melo , Carneiro, Luciana Barbosa
• 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: Glaucoma. Polimorfismo. G894T. eNOS
• Palavras-chave em Inglês: Glaucoma. Polymorphism. G894T (rsl1799983). eNOS
• Área do conhecimento CNPq: CIENCIAS BIOLOGICAS::GENETICA
• Link de acesso: https://tede2.pucgoias.edu.br/handle/tede/3752

Glaucoma can be defined as a progressive degeneration of the retinal nerve fiber layer that results in death of the ganglion cells, eventually causing blindness. It is the first cause of irreversible blindness in the world. The pathophysiology of glaucoma is not fully elucidated, although several risk factors such as genetic, racial, age and increased intraocular pressure are known. This study was a case-control study in which 116 samples were analyzed: 32 patients with primary open-angle glaucoma (18 males and 14 females; age range 65-89 years) and 84 controls (44 males and 40 females; Aged 65-86 years). The samples were submitted to DNA extraction, then to PCR and analyzed on 2% agarose gel, stained with 5 g / mL ethidium bromide. The G894T polymorphism of the eNOS gene was found in the 0% (0/32) group of homozygotes for the wild-type (GG) allele, 93.75 % (30/32) of heterozygotes (GT) and 6.25% (2/32) homozygous for the polymorphic (TT) allele. In the control group, 9.52% (8/84) of homozygotes for the wild-type (GG), 82.14% (69/84) heterozygotes (GT) and 8.33% (7/84) homozygotes for the polymorphic allele (TT). There was no statistically significant difference. As for the allelic frequency of the eNOS gene (G894T) in the case group, 46.8% of the (G) allele and 53,2% of the T allele were found, whereas the G allele frequency was 50.5% and 49, 5% of the T allele. There was no statistically significant difference. Likewise, there was no statistically significant relationship between the polymorphism with hypertension, gender, diabetes and ethnicity. There are many possible interactions of these polymorphisms and the development of glaucoma, but further studies are needed to further elucidate these associations.