title: Matrix metalloproteinase gene polymorphisms in patients with rheumatoid arthritis.
abstract: 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.
authors.affiliation: 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.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Scherer
authors.forename: Thais Barboza
authors.initials: TB
authors.lastname: de Souza
authors.forename: Juliana
authors.initials: J
authors.lastname: de Paoli
authors.forename: Claiton Viegas
authors.initials: CV
authors.lastname: Brenol
authors.forename: Ricardo Machado
authors.initials: RM
authors.lastname: Xavier
authors.forename: João Carlos Tavares
authors.initials: JC
authors.lastname: Brenol
authors.forename: José Artur
authors.initials: JA
authors.lastname: Chies
authors.forename: Daniel
authors.initials: D
authors.lastname: Simon
mesh_terms: 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
chemical_list: D005819:Genetic Markers; D020782:Matrix Metalloproteinases; D019278:Matrix Metalloproteinase 3; D020780:Matrix Metalloproteinase 9; D020781:Matrix Metalloproteinase 1