Genomic progress in pediatric arthritis: recent work and future goals

  title={Genomic progress in pediatric arthritis: recent work and future goals},
  author={James D. Phelan and Susan D. Thompson},
  journal={Current Opinion in Rheumatology},
Purpose of reviewPediatric arthritis is a heterogeneous group of chronic arthropathies that are influenced by complex genetic and perhaps environmental factors. Interacting genetic traits may one day be identified that provide the basis for predicting disease risk and other characteristics such as course, age of onset, and disease severity. The purpose of this review is to describe the recent progress towards identifying the multiple genes related to pediatric arthritis and understand how they… Expand

Paper Mentions

Observational Clinical Trial
Juvenile rheumatoid arthritis (JRA) is the most common chronic inflammatory disease in children, and may be related to genetics. Having two siblings who both have JRA in one family… Expand
ConditionsJuvenile Rheumatoid Arthritis
Are pediatric autoimmune diseases primarily genetic diseases?
A combinatorial approach considering the contributions of multiple genes, mode of inheritance, and environmental influences will be required to fully understand the mechanisms of pathogenesis in pediatric autoimmune disease. Expand
Measuring clinical response and remission in juvenile idiopathic arthritis
Significant progress has been made in the measurement of outcomes in juvenile idiopathic arthritis and outcome measures will continue to be designed and tested to keep pace with the development of new therapies and the improved understanding of the disease pathogenesis. Expand
Update on the epidemiology, risk factors and disease outcomes of Juvenile idiopathic arthritis.
The need for adults with JIA to be seen as a distinct group in adult rheumatology practice is important for both service provision and outcome research. Expand
The TRAF1/C5 region is a risk factor for polyarthritis in juvenile idiopathic arthritis
Apart from being a well replicated risk factor for RA, TRAF1/C5 also appears to be a risk factors for the rheumatoid factor-negative polyarthritis subtype of JIA and, more generally, seems to be associated with subtypes of Jia characterised by a polyarticular course. Expand
Pathogenesis and clinical manifestations of juvenile rheumatoid arthritis
The effectiveness of biologic therapy in blocking the action of proinflammatory cytokines in JRA patients provides strong evidence that they play a fundamental role in J RA inflammation. Expand
Association of neopterin as a marker of immune system activation and juvenile rheumatoid arthritis activity.
Serum neopterin can be used as a sensitive marker for assaying background inflammation and disease activity score in JIA patients and may indicate stimulation of immune response. Expand
Associated with Juvenile Idiopathic Arthritis Structural Polymorphisms in the Mannose-Binding Lectin Gene Are
Objective. To investigate the possible association between polymorphisms of the mannose-binding lectin gene (MBL2) and susceptibility to juvenile idiopathic arthritis (JIA). Methods. We performed aExpand
Structural Polymorphisms in the Mannose-Binding Lectin Gene Are Associated with Juvenile Idiopathic Arthritis
The findings suggest that genetically determined low MBL levels may predispose children to JIA in a Hungarian population and warrant further research to investigate the role of the lectin-dependent complement system in the pathogenesis of JIA. Expand
Identifying a major locus that regulates spontaneous arthritis in IL-1ra-deficient mice and analysis of potential candidates.
Three genes, Prg4, Ptgs2 and Mr1, correlated with the IL-1ra pathway were considered to be the best candidates and selected as favourable candidates based on their function and expression profiles. Expand
Anti-inflammatory Activities of GyejigaChulBuTang on Lipopolysaccharide-stimulated RAW264.7 Cells
GCBT has potential in the treatment of juvenile rheumatoid arthritis associated with inflammation and inhibition of LPS-induced phosphorylation of MAPK family, PI3K/Akt and as well as nuclear translocation of . Expand


Tapasin gene polymorphism in systemic onset juvenile rheumatoid arthritis: a family-based case–control study
There is a weak association between systemic onset JRA and the TPSN polymorphism, possibly due to linkage disequilibrium with an as yet unknown susceptibility allele in the centromeric part of chromosome 6. Expand
Gene expression profiling in pediatric rheumatic disease: what have we learned? what can we learn?
  • J. Jarvis
  • Medicine
  • Current opinion in rheumatology
  • 2005
Gene expression profiling carries considerable potential to provide novel insights into the rheumatic diseases of childhood, and future developments will determine whether these technologies provide new clinical diagnostic or prognostic tools. Expand
Susceptibility to JRA/JIA: complementing general autoimmune and arthritis traits
The difficulties of deciphering the genetic components in complex disorders are discussed, while demonstrating the similarities that JRA shares with other autoimmune disorders. Expand
Novel approaches to gene expression analysis of active polyarticular juvenile rheumatoid arthritis
A novel method for analyzing microarray data that assesses statistically significant changes in gene behavior at the population level is described and reveals the complex action of the innate and adaptive immune responses in patients and specifically underscore the role of IFN-γ in disease pathophysiology. Expand
Gene expression profiling in human autoimmunity
The literature on gene profiling in human autoimmune diseases is reviewed to provide perspective on the current state of the art and to facilitate assessments of disease activity and improve targeting of therapies. Expand
Mapping gene activity in complex disorders: Integration of expression and genomic scans for multiple sclerosis
It is found that differentially expressed genes (DEG) are not uniformly distributed in the genome, but rather appear in clusters, which significantly differ from the known heterogeneous organization characteristic of eukaryotic gene distributions. Expand
Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes.
A recently described functional single-nucleotide polymorphism in the intracellular tyrosine phosphatase (PTPN22) confers risk of four separate autoimmune phenotypes in these families: T1D, RA, SLE, and Hashimoto thyroiditis; these findings suggest a common underlying etiologic pathway for some, but not all, autoimmune disorders. Expand
Complex genetic predisposition in adult and juvenile rheumatoid arthritis
None of the investigated genetic markers is associated with both, RA and JRA, but there are some statistically significant differences between patients and controls that have to be discussed sensibly. Expand
Identifying susceptibility genes for immunological disorders: patterns, power, and proof
Several important concepts of a genetic study – patterns, power, and proof – are discussed and why these are germane in testing inherited variation for influence on disease. Expand
Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene.
This study replicated the findings of a previous association with RA and identified a novel association with JIA, providing further evidence that the PTPN22 gene plays a role in the pathogenesis of a subgroup of autoimmune diseases. Expand