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| Campo DC | Valor | Idioma |
|---|---|---|
| dc.contributor.author | Mendonça, Carla Yael Ribeiro | - |
| dc.date.available | 2020-03-12 | - |
| dc.date.available | 2020-03-13T14:16:24Z | - |
| dc.date.issued | 2019-04-20 | - |
| dc.identifier.uri | http://repositorioinstitucional.uea.edu.br//handle/riuea/2280 | - |
| dc.description.abstract | Leprosy is a chronic, infectious and neglected disease caused by the bacterium Mycobacterium leprae, an obligate intracellular bacterium. The onset of infection occurs because of the bacteria's ability to clutter the immune system, proliferating slowly in preferential cells such as skin macrophages and Schwann cells in the peripheral nerves. It is known that the majority of individuals exposed to bacillus do not develop leprosy and studies of genomic association have shown that different genes can influence the outcome of the disease. Therefore, the studies have search for variations present in genes involved in the immune response to M. leprae, which could explain the susceptibility of certain people to leprosy. Recently, single nucleotide variants (SNVs), rare and polymorphic, have been found that may be associated in different populations in the outcome of the disease. The present study goal to analyze the possible association of SNVs in the TYK2, IL23R and LRRK2 genes, to the development of leprosy. For this, a case-control study was carried out in 412 Amazonia patients, treated at the Alfredo Matta Foundation (FUAM) and 967 healthy individuals, through the allelic discrimination technique, by qPCR. The representative SNVs of the TYK2 (rs55882956), IL23R (rs76418789), LRRK2 (rs7298930) and LRRK2 (rs3761863) genes, which have been associated with leprosy in different populations, have been evaluated. Variants of the LRRK2 gene show a weak binding imbalance (DL) (r2 = 18%). Our results indicate that variants rs55882956_TYK2, rs76418789_IL23R, rs7298930_LRRK2 and rs3761863_ LRRK2 were not associated with leprosy in our population, showing Odds Ratio (OR), 4.06 (p = 0.35); 0.86 (p = 0.96); 1.42 (p = 0.58) and 0.92 (p = 0.56) respectively. Although the present study hasn't found association between SNVs and leprosy, the data presented here are important in order to better understand the complexity of this disease and to search new targets to try explain how influence genetics the result of leprosy. Palavras-chave: SNVs, IL23R, TYK2 e LRRK2, Mycobacterium leprae, Polymorphisms. | pt_BR |
| dc.language | por | pt_BR |
| dc.publisher | Universidade do Estado do Amazonas | pt_BR |
| dc.rights | Acesso Aberto | pt_BR |
| dc.rights | Atribuição-NãoComercial-SemDerivados 3.0 Brasil | * |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/br/ | * |
| dc.subject | Hanseníase | pt_BR |
| dc.subject | Variantes Genéticas | pt_BR |
| dc.subject | Amazonas | pt_BR |
| dc.title | Associação de SNVs nos genes TYK2, IL23R e LRRK2 e a hanseníase, em indivíduos atendidos na Fundação Alfredo da Matta (FUAM-AM) | pt_BR |
| dc.type | Dissertação | pt_BR |
| dc.date.accessioned | 2020-03-13T14:16:24Z | - |
| dc.contributor.advisor1 | Rodrigues, Fabíola da Costa | - |
| dc.contributor.advisor1Lattes | http://lattes.cnpq.br/3825185683565120 | pt_BR |
| dc.contributor.referee1 | Rodrigues, Fabíola da Costa | - |
| dc.contributor.referee1Lattes | http://lattes.cnpq.br/3825185683565120 | pt_BR |
| dc.contributor.referee2 | Freitas, Maria da Conceição | - |
| dc.contributor.referee2Lattes | http://lattes.cnpq.br/7618353060771291 | pt_BR |
| dc.contributor.referee3 | Carmo Júnior, Edson do | - |
| dc.contributor.referee3Lattes | http://lattes.cnpq.br/5780309549588357 | pt_BR |
| dc.creator.Lattes | http://lattes.cnpq.br/7325512866863538 | pt_BR |
| dc.description.resumo | A hanseníase é uma doença crônica, infecciosa e negligenciada, causada pela bactéria Mycobacterium leprae, uma bactéria intracelular obrigatória. A instalação da infecção ocorre pela capacidade da bactéria em desordenar o sistema imune, proliferando-se lentamente em células preferenciais, como os macrófagos de pele e células de Schwann, nos nervos periféricos. É de conhecimento que a maioria dos indivíduos expostos ao bacilo não desenvolve a hanseníase e estudos de associação genômica têm demostrado que diferentes genes podem influenciar o desfecho da doença. Nesse sentido, os estudos têm buscado variações presentes em genes envolvidos na resposta imune ao M. leprae, que poderiam explicar a susceptibilidade de determinadas pessoas à hanseníase. Recentemente, foram encontradas variantes de nucleotídeo único (SNV), raras e polimórficas, que podem estar associadas em diferentes populações no desfecho da doença. O presente estudo teve o objetivo, analisar a possível associação de SNVs, nos genes TYK2, IL23R e LRRK2, ao desenvolvimento da hanseníase. Para isso, foi realizado um estudo do tipo caso-controle, em 412 pacientes amazonenses, atendidos na Fundação Alfredo Matta (FUAM) e em 967 indivíduos saudáveis, através da técnica de discriminação alélica, por qPCR. Foram avaliados SNVs representativos, dos genes TYK2 (rs55882956), IL23R (rs76418789), LRRK2 (rs7298930) e LRRK2 (rs3761863), os quais já foram associados com a hanseníase em diferentes populações. As variantes do gene LRRK2 exibiram um fraco Desequilíbrio de Ligação (DL) (r2= 18%). Nossos resultados indicam que as variantes rs55882956_TYK2, rs76418789_IL23R, rs7298930_LRRK2 e rs3761863_ LRRK2 não foram associadas à hanseníase em nossa população, exibindo Odds Ratio (OR) de: 4,06 (p=0,35); 0,86 (p=0,96); 1,42 (p= 0,58) e 0,92 (p=0,56) respectivamente. Embora o presente estudo não tenha encontrado relação de associação dos SNVs à hanseníase, os dados aqui apresentados são importantes para conhecer melhor a complexidade dessa doença e buscar novos alvos para tentar explicar como que a genética influencia no desfecho da hanseníase. Palavras-chave: SNVs, IL23R, TYK2 e LRRK2, Mycobacterium leprae, Polimorfismos. | pt_BR |
| dc.publisher.country | Brasil | pt_BR |
| dc.publisher.program | Pós-Graduação em Biotecnologia e Recursos Naturais | pt_BR |
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| dc.subject.cnpq | Biotecnologia | pt_BR |
| dc.publisher.initials | UEA | pt_BR |
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