Investigação dos polimorfismos dos genes da interleucina-1 (IL-1), IL1RN, IL-4, IL-6 e IL-10 em pacientes adultos portadores de púrpura trombocitopênica imune = : Investigation of interleukin-1 (IL-1), IL1RN, IL-4, IL-6 and IL-10 gene polymorphism adult patients with immune thrombocytopenic purpura / Investigation of interleukin-1 (IL-1), IL1RN, IL-4, IL-6 and IL-10 gene polymorphism adult patients with immune thrombocytopenic purpura

AUTOR(ES)

Josie Fadul Vilela

FONTE

IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia

DATA DE PUBLICAÇÃO

29/08/2012

RESUMO

The immune thrombocytopenic purpura (ITP) is an autoimmune disease characterized by the presence of autoantibodies against the platelet membrane glycoproteins such as GPIIb/IIIa and GPIb/IX. The pathogenic process of ITP involves an accelerated destruction of platelets by reticuloendothelial system and the presence of mucocutaneous bleeding. The inflammatory reaction in infectious and autoimmune diseases is regulated by a balance between pro and anti-inflammatory cytokines and ITP has been associated with dysregulation of cytokine responses and activities. An association between cytokine gene polymorphisms that affect their production and secretion have been reported in infectious, allergic, autoimmune, and malignant diseases, both during training and during the illness and its response to treatment. The aim of this study was to evaluate the importance of IL1B -511C/T, IL1B +3953 C/T, IL1RN intron 2 VNTR, IL4 -590C/T IL4 intron 3 VNTR, IL6 -174G/C, IL10 -1082G/A, IL10 -819C/T and IL10 -592A/C polymorphisms in patients with ITP in the region of Campinas, SP, and investigate the association between different genotypes and clinical responses to treatment. We used the PCR method and digestion with restriction enzyme (PCR-RFLP) or real-time PCR (RT-PCR) to identify polymorphisms. In total, 216 adult patients diagnosed with ITP were matched with 118 healthy controls. The clinical data such as platelet count at diagnosis, type of treatment and response were obtained from medical records. Analysis of allele and genotypes frequencies of IL1B -511C/T, IL1B +3953C/T, IL6 -174G/C, IL10 - 1082G/A, IL10 -819C/T and IL10 -592A/C polymorphisms in patients with ITP compared to the control group showed no significant differences between the two groups. However, for IL1RN intron 2 VNTR polymorphisms, IL4 -590C/T, IL4 intron 3 VNTR and IL10 haplotypes there were a significant difference when comparing polymorphic frequencies between the two groups. Analyzing the polymorphisms associated with clinical parameters, this study showed that IL1B -511CC genotype was more frequent in individuals with good response to splenectomy. It can be concluded that the study of genetic characteristics of patients with ITP in the region of Campinas, SP should help clarify the profile of patients affected, identifying groups at higher risk and understanding which polymorphism may be associated with better clinical response.

ASSUNTO(S)

purpura trombocitopenica idiopatica polimorfismo (genética) interleucinas adulto purpura thrombocytopenic idiopathic genetic polymorphisms interleukins adult

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