Associação do SNP C79G do gene ADRB2 com parâmetros clínicos, de função pulmonar e de gravidade da asma

• Ano de defesa: 2019
• Autor(a) principal: Sousa, Valdemir Pereira de
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal do Espírito Santo; BR; Mestrado em Biotecnologia; Centro de Ciências da Saúde; UFES; Programa de Pós-Graduação em Biotecnologia
• Palavras-chave em Português: Asma; Gene; ADRB2; SNP; C79G; Gln27Glu; Asthma; subject.br-rjbn; Biotecnologia
• Link de acesso: http://repositorio.ufes.br/handle/10/13299

Asthma is among the most common chronic diseases worldwide and is a complex and heterogeneous syndrome. However, there are no specific laboratory tests for the diagnosis or prognosis of asthma to date. In recent years an important genetic contribution has been established and many studies have attempted to elucidate the molecular mechanisms that lead to its development and clinical severity. The single nucleotide polymorphism (SNP) C79G (rs1042714) of the beta-adrenergic receptor gene (ADRB2) has been reported to be relevant for increased susceptibility to asthma, its severity, and the heterogeneity of response to bronchodilator treatment. The aim of this study is to verify whether ADRB2 gene SNP C79G is associated with a set of clinical variables of asthma phenotypes, reversibility of bronchial obstruction, pulmonary function, and diagnoses of disease severity (mild, moderate and severe asthma). We interviewed 313 patients diagnosed with asthma at the Asthma Ambulatory of a philanthropic hospital in Vitória-ES. In addition to sociodemographic data, family history of the patients, anthropometric, diagnostic, asthma severity, comorbidities, spirometry results, biochemical examinations and skin tests were collected. Patients' DNA was obtained from peripheral blood samples. Analysis of the ADRB2 gene C79G polymorphism was performed for 281 patients using the allele specific polymerase chain reaction (ARMS-PCR). The analyzes conducted revealed no evidence of association of C79G genotypes with the clinical variables investigated. Although this association is positive in several studies, there are still many controversies and a significant number of studies, including meta-analyzes, with negative results supporting the results presented in this study. The data presented make it clear that there is still no consensus on the role played by SNP C79G with disease severity or pharmacogenetic response.