Analise de polimorfismos na região promotora do gene citocromo p4502e1 (cyp2e1) em indivíduos alcoolistas do município de Goiânia-Go.

• Ano de defesa: 2016
• Autor(a) principal: Ramos, Jheneffer Sonara Aguiar
• Orientador(a): Silva, Daniela de Melo e
• Banca de defesa: Rodrigues, Flávia Melo , Cardoso, Cléver Gomes
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Pontifícia Universidade Católica de Goiás
• Programa de Pós-Graduação: Genética
• Departamento: Ciências Humanas
• País: BR
• Palavras-chave em Português: CYP2E1; etanol; metabolismo; polimorfismos
• Palavras-chave em Inglês: CYP2E1; ethanol; metabolism; polymorphism
• Área do conhecimento CNPq: CNPQ::CIENCIAS BIOLOGICAS::GENETICA
• Link de acesso: https://tede2.pucgoias.edu.br/handle/tede/2404

The Cytochrome P4502E1 (CYP2E1) gene encodes an enzyme which is the main constituent of microsomal ethanol oxidizing system. Genetic variation present in the CYP2E1 gene result in significant differences in enzyme activity, however the functional significance of these variations in the metabolism of ethanol remains controversial, since there is not yet a clear correlation with differences in catalytic activity of the enzyme. In this study, the variability of the promoter region of the CYP2E1 gene was analyzed in samples of alcoholics of a Psychosocial Attention Center (CAPS) in the state of Goiás, in the city of Goiânia and the results were compared with the data obtained by the 1000 Genomes project. We conducted a study of association between polymorphisms of the promoter region of the CYP2E1 and genotoxic damage in alcoholics, for this sequencing reaction and the comet assay were performed. In our analysis there was no correlation of data polymorphisms found with genotoxic damage. However, genotoxicity analysis of the groups showed greater genotoxic damage in the case group (alcoholic) compared to the control group (p<0,05). Considering all populations evaluated, 17 points of variation were found. These points of variation are arranged in 22 different haplotypes. A high linkage disequilibrium was observed between the variants at positions -1295 and -1055, in the case and control groups and the American, European and Asian populations. Considering the complex interaction between genetic and environmental factors in response of interindividual alcoholic beverages, it is desirable to conduct studies about this interaction in populations with different genetic characteristics.