Jerônimo, Selma Maria BezerraPinheiro, Tatiana Kummer da Rocha2019-02-072019-02-072017-09-29PINHEIRO, Tatiana Kummer da Rocha. Fatores genéticos de susceptibilidade à hanseníase no Rio Grande do Norte. 2017. 71f. Dissertação (Mestrado em Bioquímica) - Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, 2017.https://repositorio.ufrn.br/jspui/handle/123456789/26571Leprosy is a chronic, slowly progressing infectious disease with a broad spectrum of clinical manifestations and it is caused by Mycobacterium leprae infection The state of Rio Grande do Norte has a low coefficient detection for new cases, but some localities have focal areas with high detection rates, such as the city of Mossoró, which had a detection rate of 39.7 per 100,000 habitants in 2012. After exposure to the bacillus, about 10% of people develop disease, with a wide spectrum of presentations, ranging from the tuberculoid pole (tuberculoid-tuberculoid, borderline-tuberculoid), the borderline (borderline-borderline), to the lepromatous pole (lepromatous-lepromatous). The World Health Organization also classifies the disease according to the number of lesions, for therapeutic purposes, classifying up to five lesions as paucibacillary (PB), and and more than five lesions, as multibacillary (MB). Approximately one third of people with leprosy develop immunopathological reactions, classified as type I, type II and neuritis. The outcome of M. leprae infection is influenced by environmental factors and by the genetic repertoire of the host. The present study was used to analyze nucleotide polymorphisms (SNPs) using a set containing 196,524 SNPs (Immunochip) in people exposed to M. leprae. The study had a case-control design with recruitment of cases of leprosy and contacts. The participants were phenotypically characterized according to exposure to M. leprae, considering the presence of anti-LID-NDO antibodies and clinical presentation. The amount of antibodies varied according to the operational classification of the leprosy and the type of reaction, being higher in MB cases and those with type II reaction. All participants were also genotyped using Immunochip. For analysis of the genotyping data were considered: leprosy vs contacts, reaction vs non-reaction, and anti-LID-NDO antibody rate. A total of 55 SNPs showed association with leprosy and antibody levels. In the leprosy vs contacts group, 10 SNPs showed association, 3 related to the immune response (FASLG, TNFS18, EBF1 and ICOSLG), as well as one SNP close to VDR, whose protein is related to immunomodulation associated with vitamin D3 in monocytes, macrophages and activated lymphocytes. In the reaction vs. non-reaction group, the association of 30 SNPs, of which 20 were to genes known as susceptibility to psoriasis, and a SNP close to the UBD gene. Levels of LID-NDO antibodies were associated with 15 SNPs, one of them related to the THEMIS gene, which encodes a regulatory protein in T-cell selection. Of the 55 SNPs associated with one of the phenotypes, 4 are found in the coding regions. Together the data suggest that susceptibility to leprosy and the development of leprosy reactions are linked to the cellular and humoral immune response of the host and could potentially be modulated.Acesso AbertoReações hansênicasM. lepraeEritema nodoso hansênicoReação reversaImmunochipSNPmasterThesisCNPQ::CIENCIAS BIOLOGICAS::BIOQUIMICA