Associação de SNVs nos genes TYK2, IL23R e LRRK2 e a hanseníase, em indivíduos atendidos na Fundação Alfredo da Matta (FUAM-AM)

• Ano de defesa: 2019
• Autor(a) principal: Mendonça, Carla Yael Ribeiro
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade do Estado do Amazonas; Brasil; UEA; Pós-Graduação em Biotecnologia e Recursos Naturais
• Palavras-chave em Português: Hanseníase; Variantes Genéticas; Amazonas; Biotecnologia
• Link de acesso: https://ri.uea.edu.br/handle/riuea/2151

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.