Autor(es): Mourão, Ana ; Santos, Maria ; Mendonça, Sílvia ; Oliveira-Ramos, Filipa ; Salgado, Manuel ; Estanqueiro, Paula ; Melo-Gomes, José ; Martins, Fernando ; Lopes, Ana ; Bettencourt, Bruno Filipe ; Bruges-Armas, Jácome ; Costa, José ; Furtado, Carolina ; Figueira, Ricardo ; Brito, Iva ; Branco, Jaime ; Fonseca, João Eurico ; Canhao, Helena
Data: 2015
Identificador Persistente: http://hdl.handle.net/10451/51759
Origem: Repositório da Universidade de Lisboa
Introduction: This study aimed to assess the genetic determinants of poor outcome in Portuguese patients with juvenile idiopathic arthritis (JIA). Methods: Our study was conducted in Reuma.pt, the Rheumatic Diseases Portuguese Register, which includes patients with JIA. We collected prospectively patient and disease characteristics and a blood sample for DNA analysis. Poor prognosis was defined as CHAQ/HAQ >0.75 at the last visit and/or the treatment with biological therapy. A selected panel of single nucleotide polymorphisms (SNPs) associated with susceptibility was studied to verify if there was association with poor prognosis. Results: Of the 812 patients with JIA registered in Reuma.pt, 267 had a blood sample and registered information used to define "poor prognosis." In univariate analysis, we found significant associations with poor prognosis for allele A of TNFA1P3/20 rs6920220, allele G of TRAF1/C5 rs3761847, and allele G of PTPN2 rs7234029. In multivariate models, the associations with TRAF1/C5 (1.96 [1.17-3.3]) remained significant at the 5% level, while TNFA1P3/20 and PTPN2 were no longer significant. Nevertheless, none of associations found was significant after the Bonferroni correction was applied. Conclusion: Our study does not confirm the association between a panel of selected SNP and poor prognosis in Portuguese patients with JIA.
