RESUMEN
Several genetic factors seem to be involved in the pathogenesis of rheumatoid arthritis (RA). The aim of this study was to analyze whether functional polymorphisms in the promoter region of the MMP-1, -3 and -9 genes were associated with RA. The study population comprises 110 RA patients and 100 healthy controls. The -1607 1G/2G MMP-1, -1171 5A/6A MMP-3, and -1562 C/T MMP-9 polymorphisms were analyzed. The frequency of the 5A allele of MMP-3 gene was significantly higher in the controls when compared with the RA patients (0.45 vs. 0.32, P < 0.01). No significant differences were observed in the allele frequencies for the MMP-1 and -9 polymorphisms between RA patients and controls. Individuals carrying MMP-3 5A allele have significant higher frequency of extra-articular manifestations and rheumatoid nodules than individuals homozygous for 6A allele (P < 0.05). The results presented in this study provide evidence of an association between the MMP-3 gene polymorphism and RA.
Asunto(s)
Artritis Reumatoide/enzimología , Artritis Reumatoide/genética , Predisposición Genética a la Enfermedad/genética , Metaloproteinasas de la Matriz/genética , Polimorfismo Genético/genética , Adulto , Anciano , Artritis Reumatoide/fisiopatología , Análisis Mutacional de ADN , Femenino , Frecuencia de los Genes/genética , Marcadores Genéticos/genética , Pruebas Genéticas , Genotipo , Homocigoto , Humanos , Articulaciones/enzimología , Articulaciones/patología , Articulaciones/fisiopatología , Masculino , Metaloproteinasa 1 de la Matriz/genética , Metaloproteinasa 3 de la Matriz/genética , Metaloproteinasa 9 de la Matriz/genética , Persona de Mediana Edad , Nódulo Reumatoide/enzimología , Nódulo Reumatoide/genética , Nódulo Reumatoide/fisiopatologíaRESUMEN
Paciente do sexo feminino, com 38 anos de idade, portadora de artrite reumatóide (AR), com dor intermetarsal no 3º espaco, em ambos os pés, com parestesia dos 3º e 4º dedos. Operada para resseccão de massas hipoecóicas evidenciadas por ecografia. O exame anátomo-patológico definiu degeneracão fibrinóide e mixóide (nódulo reumatóide).