Programa de Pós-Graduação em Diagnóstico Genético e Molecular, Universidade Luterana do Brasil, Av. Farroupilha, 8001, Prédio 22, 5 degrees andar, Canoas, RS 92425-900, Brazil.
Rheumatol Int. 2010 Jan;30(3):369-73. doi: 10.1007/s00296-009-0974-8. Epub 2009 Jun 6.
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.
几种遗传因素似乎参与了类风湿关节炎（RA）的发病机制。本研究旨在分析 MMP-1、-3 和 -9 基因启动子区域的功能多态性是否与 RA 相关。研究人群包括 110 名 RA 患者和 100 名健康对照者。分析了 -1607 1G/2G MMP-1、-1171 5A/6A MMP-3 和 -1562 C/T MMP-9 多态性。与 RA 患者相比，对照组 MMP-3 基因的 5A 等位基因频率明显更高（0.45 比 0.32，P < 0.01）。RA 患者和对照组之间 MMP-1 和 -9 多态性的等位基因频率没有显著差异。与携带 MMP-3 6A 等位基因的个体相比，携带 MMP-3 5A 等位基因的个体关节外表现和类风湿结节的频率显著更高（P < 0.05）。本研究的结果提供了 MMP-3 基因多态性与 RA 之间存在关联的证据。
