Genetic Predictors of Poor Prognosis in Portuguese Patients with Juvenile Idiopathic Arthritis: Data from Reuma.pt.
BACKGROUND
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.


CONCLUSIONS
Our study does not confirm the association between a panel of selected SNP and poor prognosis in Portuguese patients with JIA.
Rheumatology Research Unit, Instituto de Medicina Molecular, 1649-028 Lisbon, Portugal ; Rheumatology Department, Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental, 1349-019 Lisbon, Portugal ; CEDOC, Faculdade de Ciências Medicas da Universidade Nova de Lisboa, 1150-190 Lisbon, Portugal.
Ana Filipa
AF
Mourão
Rheumatology Research Unit, Instituto de Medicina Molecular, 1649-028 Lisbon, Portugal ; Rheumatology Department, Hospital Garcia de Orta, 2801-951 Almada, Portugal.
Maria José
MJ
Santos
Portuguese Society of Rheumatology, 1800-033 Lisbon, Portugal.
Sílvia
S
Mendonça
Rheumatology Department, Lisbon Academic Medical Center, 1649-028 Lisbon, Portugal.
Filipa
F
Oliveira-Ramos
Pediatrics Department, Centro Universitário Hospitalar de Coimbra, 3041-801 Coimbra, Portugal.
Manuel
M
Salgado
Pediatrics Department, Centro Universitário Hospitalar de Coimbra, 3041-801 Coimbra, Portugal.
Paula
P
Estanqueiro
Portuguese Society of Rheumatology, 1800-033 Lisbon, Portugal ; Instituto Português de Reumatologia, 1601-901 Lisbon, Portugal.
José
J
Melo-Gomes
Portuguese Society of Rheumatology, 1800-033 Lisbon, Portugal.
Fernando
F
Martins
Rheumatology Research Unit, Instituto de Medicina Molecular, 1649-028 Lisbon, Portugal.
Ana
A
Lopes
Institute for Molecular and Cell Biology (IBMC), University of Porto, 4150-180 Porto, Portugal ; Hospital de Santo Espírito da Ilha Terceira, SEEBMO, Angra do Heroísmo, 9700-049 Açores, Portugal ; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4150-180 Porto, Portugal.
Bruno Filipe
BF
Bettencourt
Institute for Molecular and Cell Biology (IBMC), University of Porto, 4150-180 Porto, Portugal ; Hospital de Santo Espírito da Ilha Terceira, SEEBMO, Angra do Heroísmo, 9700-049 Açores, Portugal ; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4150-180 Porto, Portugal.
Jácome
J
Bruges-Armas
Rheumatology Department, Hospital Conde de Bertiandos, ULSAM, 4990-041 Ponte de Lima, Portugal.
José
J
Costa
Rheumatology Department, Hospital do Divino Espírito Santo, São Miguel, 9500-370 Açores, Portugal.
Carolina
C
Furtado
Rheumatology Department, Hospital Dr. Nélio Mendonça, Funchal, 9004-514 Madeira, Portugal.
Ricardo
R
Figueira
Rheumatology Department, Hospital de São João, 4200-319 Porto, Portugal ; Faculdade de Medicina da Universidade do Porto, 4200-450 Porto, Portugal.
Iva
I
Brito
Rheumatology Department, Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental, 1349-019 Lisbon, Portugal ; CEDOC, Faculdade de Ciências Medicas da Universidade Nova de Lisboa, 1150-190 Lisbon, Portugal.
Jaime
J
Branco
Rheumatology Research Unit, Instituto de Medicina Molecular, 1649-028 Lisbon, Portugal ; Rheumatology Department, Lisbon Academic Medical Center, 1649-028 Lisbon, Portugal.
João Eurico
JE
Fonseca
Rheumatology Research Unit, Instituto de Medicina Molecular, 1649-028 Lisbon, Portugal ; Rheumatology Department, Lisbon Academic Medical Center, 1649-028 Lisbon, Portugal.
Helena
H
Canhão
D000293:Adolescent; D017668:Age of Onset; D000483:Alleles; D001171:Arthritis, Juvenile / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D011159:Population Surveillance; D011174:Portugal / Q000453:epidemiology; D011379:Prognosis; D012042:Registries