Matrix metalloproteinase gene polymorphisms in patients with rheumatoid arthritis.
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.
Scherer
Sabrina
S
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.
de Souza
Thais Barboza
TB
de Paoli
Juliana
J
Brenol
Claiton Viegas
CV
Xavier
Ricardo Machado
RM
Brenol
João Carlos Tavares
JC
Chies
José Artur
JA
Simon
Daniel
D
D000328:Adult; D000368:Aged; D001172:Arthritis, Rheumatoid / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007596:Joints / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D008297:Male; D020781:Matrix Metalloproteinase 1 / Q000235:genetics; D019278:Matrix Metalloproteinase 3 / Q000235:genetics; D020780:Matrix Metalloproteinase 9 / Q000235:genetics; D020782:Matrix Metalloproteinases / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D012218:Rheumatoid Nodule / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology
D005819:Genetic Markers; D020782:Matrix Metalloproteinases; D019278:Matrix Metalloproteinase 3; D020780:Matrix Metalloproteinase 9; D020781:Matrix Metalloproteinase 1