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dc.contributor.authorRech, Tássia Florespt_BR
dc.contributor.authorMoraes, Sara Beatriz del Cuetopt_BR
dc.contributor.authorBredemeier, Markuspt_BR
dc.contributor.authorPaoli, Juliana dept_BR
dc.contributor.authorBrenol, João Carlos Tavarespt_BR
dc.contributor.authorXavier, Ricardo Machadopt_BR
dc.contributor.authorChies, Jose Artur Bogopt_BR
dc.contributor.authorSimon, Danielpt_BR
dc.date.accessioned2018-07-31T02:33:45Zpt_BR
dc.date.issued2016pt_BR
dc.identifier.issn1676-5680pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/180863pt_BR
dc.description.abstractThe major pathological hallmark of the systemic sclerosis (SSc) is skin and internal organ fibrosis, which results from normal tissue architecture alterations and extracellular matrix (ECM) protein deposition. ECM components are degraded by matrix metalloproteinases (MMP). Promoter region polymorphisms in MMP genes may influence gene expression, resulting in an imbalance between ECM protein production and degradation. Here, we analyzed MMP1 -1607 1G/2G (rs1799750), MMP3 -1171 5A/6A (rs3025058), and MMP9 -1562 C/T (rs3918242) polymorphisms in relation to susceptibility to SSc and its clinical features. The patient group included 98 individuals with longstanding or recently diagnosed disease, meeting the American College of Rheumatology or LeRoy and Medsger criteria for SSc; the control group included 100 healthy blood donors. All participants were of European descent. Genotyping was performed by polymerase chain reaction followed by restriction digestion. Genotype and allele frequencies of MMP polymorphisms were similar between the two groups. In secondary analyses, significantly higher frequency of 1G/2G genotype from MMP1 polymorphism was observed for patients testing positive for antinuclear autoantibodies (P = 0.007), while 1G/1G genotype was associated with interstitial lung disease development (P = 0.018). The 6A/6A genotype from MMP3 polymorphism was absent in patients with calcinosis (P = 0.011), while the MMP3 5A/5A genotype correlated with the presence of anti-topoisomerase I antibodies (P = 0.009) and reduced diffusing capacity for carbon monoxide (P = 0.024). These results suggest that MMP polymorphisms are not associated with SSc susceptibility, although MMP1 and MMP3 variants are associated with specific SSc clinical and laboratory features.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofGenetics and molecular research. Ribeirão Preto, SP. Vol. 15, no. 4 (Dec. 2016), 15049077, 10 p.pt_BR
dc.rightsOpen Accessen
dc.subjectSystemic sclerosisen
dc.subjectEscleroderma sistêmicopt_BR
dc.subjectRegiões promotoras genéticaspt_BR
dc.subjectMatrix metalloproteinaseen
dc.subjectMMP1en
dc.subjectPolimorfismo de nucleotídeo únicopt_BR
dc.subjectPredisposição genética para doençapt_BR
dc.subjectMMP3en
dc.subjectMMP9en
dc.subjectFrequência do genept_BR
dc.subjectGenetic polymorphismsen
dc.titleMatrix metalloproteinase gene polymorphisms and susceptibility to systemic sclerosispt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001072934pt_BR
dc.type.originNacionalpt_BR


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