Navegando por Palavras-chave "polimorfismo gênico"
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- ItemAcesso aberto (Open Access)Análise dos polimorfismos do KISS1 em meninas com puberdade precoce central(Universidade Federal de São Paulo (UNIFESP), 2013-12-20) Goncalves, Eline Maria Stafuzza [UNIFESP]; Soares Junior, Jose Maria [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)BACKGROUND: Puberty may be influenced by genetic, nutritional, environmental and socioeconomic factors. However, its etiology is unknown. The influence of the kisspeptin-GPR54 complex in the hypothalamus-pituitary-ovarian axis is known, but not its exact mechanism. This research may help in the diagnosis and to find better treatment to patients with central precocious puberty, and, consequently reduce the problems resulting from this early ripening. OBJECTIVES: To evaluate the association between the polymorphisms of the gene KISS1 and central precocious puberty. METHODS: 184 patients from the Gynecology of Childhood and Adolescence Ambulatory, from the Department of Gynecology, UNIFESP-EPM, were divided into: Control Group - made up of 107 girls without central precocious puberty and Case Group - composed of 77 girls diagnosed with central precocious puberty. Eight polymorphisms were analyzed, related to exon 2 and 3 of the gene KISS1 by using DNA extracted from peripheral blood collected. RESULTS: The polymorphisms E and F of exon 3, previous described, weren?t found. There was no association between the polymorphisms of KISS1 and central precocious puberty. There was significant difference between caucasian and non-caucasian ethnic groups in relation to polymorphism of exon 2 and G of exon 3, hypothesizing be protective factors. CONCLUSION: Although we did not find relation between polymorphisms KISS1 and precocious puberty, this process has multiple mechanisms and perhaps interaction with environmental factors may be decisive for the early process.
- ItemSomente MetadadadosAssociação negativa entre polimorfismos de toll like receptor-4 e espondilite anquilosante(Universidade Federal de São Paulo (UNIFESP), 2013-12-18) Machado, Natalia Pereira [UNIFESP]; Pinheiro, Marcelo de Medeiros Pinheiro [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Introdução: Mais recentemente, a imunidade inata tem sido implicada na fisiopatogenia da espondilite anquilosante (EA), em especial os aspectos relacionados com a perpetuação da apresentação antigênica e a interação entre os toll-like receptors (TLR) e o HLA-B27. Objetivos: Estudar os polimorfismos de TLR-4 (Asp299Gly e Thr 399Ile) em pacientes com EA, bem como investigar a associação destes achados com a atividade e a gravidade da doença. Pacientes e Métodos: Estudo transversal envolvendo 200 pacientes, com diagnóstico de EA (critérios de Nova Iorque modificados, 1984) e um grupo controle saudável de 200 indivíduos controlados para idade e sexo. Foram excluídos pacientes com infecções e/ ou antibioticoterapia nos últimos 30 dias que antecederam a avaliação. A atividade da doença foi avaliada por meio do BASDAI e ASDAS-VHS e ASDAS-PCR. A capacidade funcional e a gravidade da doença foram medidas pelo BASFI, BASMI e mSASSS, respectivamente. A pesquisa dos polimorfismos do TLR-4 foi realizada por meio da técnica de RFLP. Foram realizadas ainda PCR (reação da cadeia de polimerase) convencional para o HLA-B27 e radiografias da coluna cervical e lombar do grupo de pacientes. A análise estatística incluiu descrição global dos achados, análise inferencial, incluindo testes de correlação, não paramétricos e de associação, bem como modelos de regressão. Utilizou-se o software IBM SPSS Statistics 20 e valores de p menor do que 0,05 foram considerados como significantes. Resultados: A média de idade e o tempo de doença foi de 43,1 e 16,6 anos, respetivamente, com predomínio de homens (71%) e indivíduos não brancos (52%). A positividade para o HLA-B27 foi de 66% da amostra de pacientes. O comprometimento funcional e a atividade de doença foram considerados moderados. Não foi estabelecida associação entre os dois polimorfismos do TLR-4 pesquisados e a susceptibilidade para EA. Conclusão: Os polimorfismos 399 e 299 do TLR-4 não foram mais encontrados em pacientes com EA do que em controles saudáveis e nenhuma das variáveis clínicas se associou com a presença desses polimorfismos.
- ItemAcesso aberto (Open Access)Estudo da frequência dos alelos de HLA-DRB1 em pacientes brasileiros com artrite reumatoide(Sociedade Brasileira de Reumatologia, 2011-10-01) Usnayo, Magali Justina Gómez; Andrade, Luiz Eduardo Coelho [UNIFESP]; Alarcon, Renata Trigueirinho [UNIFESP]; Oliveira, Juliana Cardoso; Silva, Gustavo Milson Fabrício; Bendet, Izidro; Burlingame, Rufus; Porto, Luis Cristóvão; Pinheiro, Geraldo da Rocha Castelar; Universidade Estadual do Rio de Janeiro Programa de Pós-graduação em Ciências Médicas; Universidade Federal de São Paulo (UNIFESP); UERJ Laboratório de Histocompatibilidade e Criopreservação Programa de Pós-graduação em Biologia Humana e Experimental; DASA Sérgio Franco Medicina Diagnóstica; INOVA Diagnostics, Inc; UERJ Departamento de Histologia e Embriologia Laboratório de Histocompatibilidade e Criopreservação; UERJ Faculdade de Ciências MédicasThe HLA-DRB1 alleles encoding an amino acid sequence (QKRAA/QRRAA/RRRAA) at position 70 74 of the third hypervariable region of the β1 chain of the HLA-DRB1 gene, called shared epitope (SE), are associated with increased susceptibility to and severity of rheumatoid arthritis (RA) in different populations. OBJECTIVE: To determine the frequency of HLA-DRB1 alleles in Brazilian patients with RA and their association with rheumatoid factor (RF) and anti-citrullinated peptide antibodies (ACPA). METHODS: Four hundred and twelve patients with RA (ACR 1987) and 215 controls were included. HLA-DRB1 typing was performed by use of polymerase chain reaction (PCR) with specific primers and hybridization with sequence-specific oligonucleotide probe (SSOP). ACPA was measured by use of the ELISA technique and RF by nephelometry. The statistical analysis comprised the chi-square and Student t tests and logistic regression. RESULTS: HLA-DRB1*04:01, *04:04, *04:05 alleles were associated with RA (P < 0.05); despite the wide confidence interval, it is worth noting the association between the DRB1*09:01 allele and RA (P < 0.05). HLA-DRB1 SE+ alleles were observed in 62.8% of the patients and in 31.1% of controls (OR 3.62; P < 0.001) and were associated with ACPA (OR 2.03; P < 0.001). DRB1-DERAA alleles showed a protective effect against RA (OR 0.42; P < 0.001). CONCLUSION: In a sample of Brazilian patients with RA, most of whom of mixed heritage, HLA-DRB1 SE+ alleles were associated with susceptibility to disease and presence of ACPA.
- ItemAcesso aberto (Open Access)Future perspective for diagnosis in autoimmune diseases(Academia Brasileira de Ciências, 2009-09-01) Andrade, Luiz Eduardo Coelho [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Human beings have taken successive approaches for the understanding and management of diseases. Initially brewed in supernatural concepts and mystical procedures, a vigorous scientific approach has emerged on the grounds of fundamental disciplines such as anatomy, microbiology, biochemistry, physiology, immunology, pathology, and pharmacology. The resulting integrated knowledge contributed to the current classification of diseases and the way Medicine is carried out today. Despite considerable progress, this approach is rather insufficient when it comes to systemic inflammatory conditions, such as systemic lupus erythematosus, that covers clinical conditions ranging from mild pauci-symptomatic diseases to rapidly fatal conditions. The treatment for such conditions is often insufficient and novel approaches are needed for further progress in these areas of Medicine. A recent breakthrough has been achieved with respect to chronic auto-inflammatory syndromes, in which molecular dissection of underlying gene defects has provided directions for target-oriented therapy. Such approach may be amenable to application in systemic auto-immune diseases with the comprehension that such conditions may be the consequence of interaction of specific environmental stimuli and an array of several and interconnected gene polymorphisms. On the bulk of this transformation, the application of principles of pharmacogenetics may lead the way towards a progressively stronger personalized Medicine.