ABSTRACT
OBJECTIVES: Conflicting data from studies on the potential role of multidrug resistance 1 gene polymorphisms in inflammatory bowel disease may result from the analysis of genetically and geographically distinct populations. Here, we investigated whether multidrug resistance 1 gene polymorphisms are associated with inflammatory bowel diseases in patients from Rio de Janeiro. METHODS: We analyzed 123 Crohn's disease patients and 83 ulcerative colitis patients to determine the presence of the multidrug resistance 1 gene polymorphisms C1236T, G2677T and C3435T. In particular, the genotype frequencies of Crohn's disease and ulcerative colitis patients were analyzed. Genotype-phenotype associations with major clinical characteristics were established, and estimated risks were calculated for the mutations. RESULTS: No significant difference was observed in the genotype frequencies of the multidrug resistance 1 G2677T/A and C3435T polymorphisms between Crohn's disease and ulcerative colitis patients. In contrast, the C1236T polymorphism was significantly more common in Crohn's disease than in ulcerative colitis (p = 0.047). A significant association was also found between the multidrug resistance 1 C3435T polymorphism and the stricturing form of Crohn's disease (OR: 4.13; p = 0.009), whereas no association was found with penetrating behavior (OR: 0.33; p = 0.094). In Crohn's disease, a positive association was also found between the C3435T polymorphism and corticosteroid resistance/refractoriness (OR: 4.14; p = 0.010). However, no significant association was found between multidrug resistance 1 gene polymorphisms and UC subphenotypic categories. CONCLUSION: The multidrug resistance 1 gene polymorphism C3435T is associated with the stricturing phenotype and an inappropriate response to therapy in Crohn's disease. This association with Crohn's disease may support additional pathogenic roles ...
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Female , Humans , Male , Middle Aged , Young Adult , Colitis, Ulcerative/genetics , Crohn Disease/genetics , Genes, MDR/genetics , Polymorphism, Genetic/genetics , Gene Frequency , Genetic Association Studies , Phenotype , Polymorphism, Single NucleotideABSTRACT
Objetivo: o objetivo deste estudo foi verificar a presença de subpopulacões linfocitárias na lâmina própria do intestino delgado (MALT) de pacientes com Esclerose Sistêmica. Métodos: foram estudados 15 pacientes do sexo feminimo com diagnóstico de esclerose sistêmica cutânea difusa. O grupo controle foi constituido de dez voluntários saudáveis. Biópsia peroral jejunal na altura do ângulo de Treitz, utilizando uma cápsula de Watson para adultos sob fluorescência, foi realizada em todos os indivíduos. A avaliação imunológica foi feita através da técnica de imunoperoxidade indireta para anticorpos monoclonais anti CD3, CD4 e CD8. Resultados: o número de células expressando CD3, CD4 e CD8 na lâmina própria do intestino delgado dos pacientes estava significativamente diminuído quando comparado ao grupo controle. Conclusão: estes resultados sugerem que as células mononucleares intestinais participam na patogênese da Esclerose Sistêmica.