Avalia??o demogr?fica, clinico-laboratorial e gen?tica de indiv?duos com lupus eritematoso sist?mico e artrite reumat?ide residentes em regi?o tropical

Autor: Souza, Ol?via Maria Nascimento de
Jazyk: portugalština
Rok vydání: 2007
Předmět:
Zdroj: Repositório Institucional da UFRNUniversidade Federal do Rio Grande do NorteUFRN.
Druh dokumentu: masterThesis
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Coordena??o de Aperfei?oamento de Pessoal de N?vel Superior
The aetiology of autoimmunes disease is multifactorial and involves interactions among environmental, hormonal and genetic factors. Many different genes may contribute to autoimmunes disease susceptibility. The major histocompatibility complex (MHC) genes have been extensively studied, however many non-polymorphic MHC genes have also been reported to contribute to autoimmune diseases susceptibility. The aim of the present study was to evaluate the influence of SLC11A1 gene in systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Ninety-six patients with SLE, 37 with RA and 202 controls enrolled in this case-control study, were evaluated with regard to demographic, genetic, laboratorial and clinical data. SLE mainly affects females in the ratio of 18 women for each man, 88,3% of the patients aged from 15 to 45 years old and it occurs with similar frequency in whites and mulattos. The rate of RA between women and men was 11:1, with 77,1% of the cases occurring from 31 to 60 years. The genetic analysis of the point mutation -236 of the SLC11A1 gene by SSCP did not show significant differences between alleles/genotypes in patients with SLE or RA when compared to controls. The most frequent clinical manifestations in patients with SLE were cutaneous (87%) and joint (84.9%). In patients with RA, the most frequent out-joint clinical manifestation were rheumatoid nodules (13,5%). Antinuclear antibodies were present in 100% of the patients with SLE. There was no significant relation between activity of disease and presence of rheumatoid factor in patients with RA, however 55,6% of patients with active disease presented positive rheumatoid factor. Significant association between alleles/genotypes of point mutation -236 and clinical manifestations was not found
A etiologia das doen?as autoimunes ? multifatorial, resultando de intera??es complexas de fatores ambientais, hormonais e gen?ticos. Diversos genes contribuem para a suscetibilidade ?s doen?as autoimunes. Os genes do complexo principal de histocompatibilidade (MHC) tem sido amplamente estudados, por?m genes n?o-MHC tamb?m parecem contribuir para a suscetibilidade a autoimunidade. O presente estudo tem por objetivo avaliar a influ?ncia do gene SLC11A1 nas doen?as autoimunes lupus eritematoso sist?mico (LES) e artrite reumat?ide (AR). Foram arrolados 96 pacientes com LES, 37 com AR e 202 controles saud?veis, em estudo caso-controle, avaliando os dados demogr?ficos, gen?ticos e cl?nico-laboratoriais. LES afetou principalmente o sexo feminino na raz?o de 18 mulheres para 1 homem, sendo 88,3% na faixa et?ria entre 15 e 45 anos e ocorreu com freq??ncias semelhantes em brancos e pardos. A raz?o encontrada de AR entre mulheres e homens foi 11:1, com 77,1% dos casos ocorrendo entre 31 e 60 anos. A an?lise gen?tica do ponto de muta??o -236 da regi?o promotora do gene SLC11A1 por SSCP, n?o mostrou diferen?as significativas entre as freq??ncias de alelos ou gen?tipos de pacientes com LES ou AR em rela??o aos controles. As manifesta??es cl?nicas mais freq?entes nos pacientes com LES foram a cut?nea (87%) e articular (84,9%). Na AR a manifesta??o cl?nica extra-articular mais encontrada foi a presen?a de n?dulo reumat?ide (13,5%). A pesquisa do anticorpo anti-nuclear (FAN) foi positiva em 100% dos pacientes com LES. N?o houve rela??o significativa entre doen?a ativa e presen?a de fator reumat?ide em pacientes com AR, no entanto, 55,6% dos pacientes com doen?a ativa, apresentavam fator reumat?ide positivo. N?o foi encontrada associa??o significativa entre as manifesta??es cl?nicas ou achados laboratoriais e alelos/gen?tipos do ponto de muta??o -236
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