Estrutura e variabilidade do promotor do gene do fator de necrose tumoral humano (TNF)
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Tipo de documento: | Dissertação |
Idioma: | por |
Título da fonte: | Repositório Institucional da UFG |
Texto Completo: | http://repositorio.bc.ufg.br/tede/handle/tede/7768 |
Resumo: | The gene for tumor necrosis factor (TNF) is located in the human MHC central region known as class III (Major Histocompatibility Complex). This gene encodes an important pro- inflammatory cytokine produced primarily by macrophages, and it has been associated with several diseases, such as autoimmune and degenerative ones. Studies indicate that TNF polymorphisms may influence their level of expression and activity and therefore could influence susceptibility to tumors. Whereas the bladder urothelium can constantly be the target of inflammatory processes and as the main forms of treatment of bladder tumors are immunotherapy, the genetic profile of an individual can influence susceptibility to this type of injury. In this study, we analyzed the structure and variability of the regulatory region of the TNF gene in Brazilian samples and the results were compared with data obtained by 1000Genomes project. A study of association between polymorphisms of the promoter region of TNF and bladder carcinoma patients in the state of São Paulo in Ribeirão Preto, in our analysis was conducted there was no relationship of the data found with bladder carcinoma. In all evaluated populations we found 15 variation points, found in 11 Brazilian and 15 variation points found in the 1000Genomes data, these variation points are arranged in 20 different haplotypes. These haplotypes with comparisons involving primate sequences indicated that one allele arose before the main speciation and human dispersion. Two strains were defined by haplotype relationships and are probably very old in human evolutionary history, since all populations evaluated showed haplotypes belonging to each of these strains. The frequency of haplotype H01 is the highest among all populations evaluated. However, the haplotype H12, although at reduced frequency compared to H01 is probably the oldest haplotype in part by the second line being shared with other primates. |
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Silva, Daniela de Melo ehttp://lattes.cnpq.br/9895211901348365Castelli, Erick da Cruzhttp://lattes.cnpq.br/0992559318175235Silva, Cláudio Carlos daSoares, Thannya Nascimentohttp://lattes.cnpq.br/8698011517650065Lopes, Mariana Paiva2017-09-19T13:59:44Z2014-03-12LOPES, Mariana Paiva. Estrutura e variabilidade do promotor do gene do fator de necrose tumoral humano (TNF). 2014. 53 f. Dissertação (Mestrado em Genética e Biologia Molecular) - Universidade Federal de Goiás, Goiânia, 2014.http://repositorio.bc.ufg.br/tede/handle/tede/7768The gene for tumor necrosis factor (TNF) is located in the human MHC central region known as class III (Major Histocompatibility Complex). This gene encodes an important pro- inflammatory cytokine produced primarily by macrophages, and it has been associated with several diseases, such as autoimmune and degenerative ones. Studies indicate that TNF polymorphisms may influence their level of expression and activity and therefore could influence susceptibility to tumors. Whereas the bladder urothelium can constantly be the target of inflammatory processes and as the main forms of treatment of bladder tumors are immunotherapy, the genetic profile of an individual can influence susceptibility to this type of injury. In this study, we analyzed the structure and variability of the regulatory region of the TNF gene in Brazilian samples and the results were compared with data obtained by 1000Genomes project. A study of association between polymorphisms of the promoter region of TNF and bladder carcinoma patients in the state of São Paulo in Ribeirão Preto, in our analysis was conducted there was no relationship of the data found with bladder carcinoma. In all evaluated populations we found 15 variation points, found in 11 Brazilian and 15 variation points found in the 1000Genomes data, these variation points are arranged in 20 different haplotypes. These haplotypes with comparisons involving primate sequences indicated that one allele arose before the main speciation and human dispersion. Two strains were defined by haplotype relationships and are probably very old in human evolutionary history, since all populations evaluated showed haplotypes belonging to each of these strains. The frequency of haplotype H01 is the highest among all populations evaluated. However, the haplotype H12, although at reduced frequency compared to H01 is probably the oldest haplotype in part by the second line being shared with other primates.O gene do Fator de Necrose Tumoral (TNF) humano está localizado no MHC (Complexo Principal de Histocompatibilidade) central, região conhecida como classe III. Este gene codifica uma citocina pró-inflamatória importante, produzida principalmente por macrófagos, que tem sido relacionada com diversas doenças, como as autoimunes e as degenerativas. Estudos indicam que polimorfismos do TNF podem influenciar seu nível de expressão e atividade e, portanto, poderiam influenciar a susceptibilidade a tumores. Considerando que o urotélio vesical pode ser constantemente alvo de processos inflamatórios e que as principais formas de tratamento de tumores vesicais são imunoterápicos, o perfil genético de um indivíduo pode influenciar a susceptibilidade a esse tipo de lesão. Neste estudo analisamos a estrutura e a variabilidade da região regulatória do gene TNF em amostras brasileiras e os resultados foram comparados com dados obtidos pelo projeto 1000Genomes. Foi realizado um estudo de associação entre polimorfismos da região promotora do TNF e o carcinoma vesical em pacientes do estado de São Paulo da cidade de Ribeirão Preto, nas nossas análises não houve relação dos dados encontrados com o carcinoma vesical. Considerando todas as populações avaliadas foram encontrados 15 pontos de variação, 11 encontrados nas amostras brasileiras e 15 encontrados nos dados do projeto 1000Genomes, esses pontos de variação estão arranjados em 20 haplótipos diferentes. Esses haplótipos em conjunto com as comparações envolvendo sequências de primatas indicam que um alelo principal surgiu antes da especiação e dispersão humana. Duas linhagens foram definidas pelas relações haplotípicas e são, provavelmente, muito antigas na história evolutiva humana, já que todas as populações avaliadas apresentaram haplótipos pertencentes a cada uma destas linhagens. A frequência do haplótipo H01 é a mais alta entre todas as populações avaliadas. No entanto, o haplótipo H12, embora com frequência reduzida quando comparado com o H01, provavelmente é o haplótipo mais antigo em parte por esta segunda linhagem ser compartilhada com outros primatas.Submitted by Franciele Moreira (francielemoreyra@gmail.com) on 2017-09-13T17:35:41Z No. of bitstreams: 2 Dissertação - Mariana Paiva Lopes - 2014 .pdf: 2192084 bytes, checksum: e551c174d821b3b398247680a94c40cd (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2017-09-19T13:59:44Z (GMT) No. of bitstreams: 2 Dissertação - Mariana Paiva Lopes - 2014 .pdf: 2192084 bytes, checksum: e551c174d821b3b398247680a94c40cd (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)Made available in DSpace on 2017-09-19T13:59:44Z (GMT). No. of bitstreams: 2 Dissertação - Mariana Paiva Lopes - 2014 .pdf: 2192084 bytes, checksum: e551c174d821b3b398247680a94c40cd (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Previous issue date: 2014-03-12Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPESapplication/pdfporUniversidade Federal de GoiásPrograma de Pós-graduação em Genética e Biologia MolecularUFGBrasilInstituto de Ciências Biológicas - ICB (RG)http://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessComplexo principal de histocompatibilidadeFator de necrose tumoralCarcinoma vesicalDesequilíbrio de ligaçãoHaplótiposMajor histocompatibility complexTumor necrosis factorbladder carcinomaLinkage disequilibriumHaplotypesBIOQUIMICA::BIOLOGIA MOLECULAREstrutura e variabilidade do promotor do gene do fator de necrose tumoral humano (TNF)info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesis7015780075895009588600600600600-387277211782737340439621439903280520722075167498588264571reponame:Repositório Institucional da UFGinstname:Universidade Federal de Goiás (UFG)instacron:UFGORIGINALDissertação - Mariana Paiva Lopes - 2014 .pdfDissertação - Mariana Paiva Lopes - 2014 .pdfapplication/pdf2192084http://repositorio.bc.ufg.br/tede/bitstreams/389a9d03-6cf5-4827-b471-d25f80040a1c/downloade551c174d821b3b398247680a94c40cdMD55LICENSElicense.txtlicense.txttext/plain; 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dc.title.eng.fl_str_mv |
Estrutura e variabilidade do promotor do gene do fator de necrose tumoral humano (TNF) |
title |
Estrutura e variabilidade do promotor do gene do fator de necrose tumoral humano (TNF) |
spellingShingle |
Estrutura e variabilidade do promotor do gene do fator de necrose tumoral humano (TNF) Lopes, Mariana Paiva Complexo principal de histocompatibilidade Fator de necrose tumoral Carcinoma vesical Desequilíbrio de ligação Haplótipos Major histocompatibility complex Tumor necrosis factor bladder carcinoma Linkage disequilibrium Haplotypes BIOQUIMICA::BIOLOGIA MOLECULAR |
title_short |
Estrutura e variabilidade do promotor do gene do fator de necrose tumoral humano (TNF) |
title_full |
Estrutura e variabilidade do promotor do gene do fator de necrose tumoral humano (TNF) |
title_fullStr |
Estrutura e variabilidade do promotor do gene do fator de necrose tumoral humano (TNF) |
title_full_unstemmed |
Estrutura e variabilidade do promotor do gene do fator de necrose tumoral humano (TNF) |
title_sort |
Estrutura e variabilidade do promotor do gene do fator de necrose tumoral humano (TNF) |
author |
Lopes, Mariana Paiva |
author_facet |
Lopes, Mariana Paiva |
author_role |
author |
dc.contributor.advisor1.fl_str_mv |
Silva, Daniela de Melo e |
dc.contributor.advisor1Lattes.fl_str_mv |
http://lattes.cnpq.br/9895211901348365 |
dc.contributor.advisor-co1.fl_str_mv |
Castelli, Erick da Cruz |
dc.contributor.advisor-co1Lattes.fl_str_mv |
http://lattes.cnpq.br/0992559318175235 |
dc.contributor.referee1.fl_str_mv |
Silva, Cláudio Carlos da |
dc.contributor.referee2.fl_str_mv |
Soares, Thannya Nascimento |
dc.contributor.authorLattes.fl_str_mv |
http://lattes.cnpq.br/8698011517650065 |
dc.contributor.author.fl_str_mv |
Lopes, Mariana Paiva |
contributor_str_mv |
Silva, Daniela de Melo e Castelli, Erick da Cruz Silva, Cláudio Carlos da Soares, Thannya Nascimento |
dc.subject.por.fl_str_mv |
Complexo principal de histocompatibilidade Fator de necrose tumoral Carcinoma vesical Desequilíbrio de ligação Haplótipos |
topic |
Complexo principal de histocompatibilidade Fator de necrose tumoral Carcinoma vesical Desequilíbrio de ligação Haplótipos Major histocompatibility complex Tumor necrosis factor bladder carcinoma Linkage disequilibrium Haplotypes BIOQUIMICA::BIOLOGIA MOLECULAR |
dc.subject.eng.fl_str_mv |
Major histocompatibility complex Tumor necrosis factor bladder carcinoma Linkage disequilibrium Haplotypes |
dc.subject.cnpq.fl_str_mv |
BIOQUIMICA::BIOLOGIA MOLECULAR |
description |
The gene for tumor necrosis factor (TNF) is located in the human MHC central region known as class III (Major Histocompatibility Complex). This gene encodes an important pro- inflammatory cytokine produced primarily by macrophages, and it has been associated with several diseases, such as autoimmune and degenerative ones. Studies indicate that TNF polymorphisms may influence their level of expression and activity and therefore could influence susceptibility to tumors. Whereas the bladder urothelium can constantly be the target of inflammatory processes and as the main forms of treatment of bladder tumors are immunotherapy, the genetic profile of an individual can influence susceptibility to this type of injury. In this study, we analyzed the structure and variability of the regulatory region of the TNF gene in Brazilian samples and the results were compared with data obtained by 1000Genomes project. A study of association between polymorphisms of the promoter region of TNF and bladder carcinoma patients in the state of São Paulo in Ribeirão Preto, in our analysis was conducted there was no relationship of the data found with bladder carcinoma. In all evaluated populations we found 15 variation points, found in 11 Brazilian and 15 variation points found in the 1000Genomes data, these variation points are arranged in 20 different haplotypes. These haplotypes with comparisons involving primate sequences indicated that one allele arose before the main speciation and human dispersion. Two strains were defined by haplotype relationships and are probably very old in human evolutionary history, since all populations evaluated showed haplotypes belonging to each of these strains. The frequency of haplotype H01 is the highest among all populations evaluated. However, the haplotype H12, although at reduced frequency compared to H01 is probably the oldest haplotype in part by the second line being shared with other primates. |
publishDate |
2014 |
dc.date.issued.fl_str_mv |
2014-03-12 |
dc.date.accessioned.fl_str_mv |
2017-09-19T13:59:44Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/masterThesis |
format |
masterThesis |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
LOPES, Mariana Paiva. Estrutura e variabilidade do promotor do gene do fator de necrose tumoral humano (TNF). 2014. 53 f. Dissertação (Mestrado em Genética e Biologia Molecular) - Universidade Federal de Goiás, Goiânia, 2014. |
dc.identifier.uri.fl_str_mv |
http://repositorio.bc.ufg.br/tede/handle/tede/7768 |
identifier_str_mv |
LOPES, Mariana Paiva. Estrutura e variabilidade do promotor do gene do fator de necrose tumoral humano (TNF). 2014. 53 f. Dissertação (Mestrado em Genética e Biologia Molecular) - Universidade Federal de Goiás, Goiânia, 2014. |
url |
http://repositorio.bc.ufg.br/tede/handle/tede/7768 |
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por |
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por |
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3962143990328052072 |
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http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess |
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http://creativecommons.org/licenses/by-nc-nd/4.0/ |
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openAccess |
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Universidade Federal de Goiás |
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Programa de Pós-graduação em Genética e Biologia Molecular |
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UFG |
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Brasil |
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Instituto de Ciências Biológicas - ICB (RG) |
publisher.none.fl_str_mv |
Universidade Federal de Goiás |
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