Polimorfismo no gene HTR2A relacionados à síndrome da apnéia obstrutiva do sono

• Ano de defesa: 2017
• Autor(a) principal: Carvalho, Thiago Bittencourt Ottoni de
• Orientador(a): Maniglia, José Victor
• Banca de defesa: Molina, Fernando Drimel , Patrocinio, Lucas Gomes , Fernandes, Atílio Maximino, Marques, Caroline G.
• Tipo de documento: Tese
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Faculdade de Medicina de São José do Rio Preto
• Programa de Pós-Graduação: Programa de Pós-Graduação em Ciências da Saúde
• Departamento: Faculdade 1::Departamento 1
• País: Brasil
• Palavras-chave em Português: Apneia Obstrutiva do Sono; Polimorfismo Genético; Medicina do Sono
• Palavras-chave em Inglês: Sleep Apnea, Obstructive; Polymorphism, Genetic; Sleep Medicine Specialty
• Área do conhecimento CNPq: CIENCIAS DA SAUDE
• Link de acesso: http://bdtd.famerp.br/handle/tede/529

Obstructive sleep apnea syndrome (OSAS) is one of the most complex disorders of sleep; it comprises several genetic factors that contribute to the phenotype. Serotonin (5-HT) regulates a variety of visceral and physiological functions, including sleep. Gene 5-HTR2A polymorphisms may change the transcription of several receptors in the serotoninergic system, thereby contributing to OSAS. Objective: To investigate the prevalence of T102C and -1438G/A polymorphisms in the 5-HTR2A gene of patients with and without OSAS. Casuistic and Methods: A cross-sectional case study. A molecular study of 100 patients as index-cases and 100 controls of both genders. DNA was extracted from blood leukocytes samples and the regions that enclose both polymorphisms were amplified by PCR-RFLP techniques. Results: There was a significant prevalence of males in index cases compared to controls (p<0.0001). No significant genotypic differences between cases and controls were found in T102C polymorphism (p=1.000). There was a statistical difference of the polymorphism genotypes -1438 G/A found in the index cases compared to the control group. There were significant differences between the AA genotype of -1438G/A polymorphisms and patients with OSAS (OR:2.3; CI95%:1.20-4.38, p=0.01). Conclusion: Serotonergic mechanisms may be related to OSAS. There were no differences in the prevalence of T102C polymorphisms in patients with OSAS and the control group. Evidences of an association between the -1438G/A polymorphism and OSAS were observed.