Best Practice & Research Clinical Rheumatology
Volume 23, Issue 5 , Pages 589-597 , October 2009

An overview of genetics of paediatric rheumatic diseases

  • Patricia Woo, MBBS, PhD, FMedSci (Professor of Paediatric Rheumatology)

      Affiliations

    • Windeyer Building, University College London, 46, Cleveland Street, London W1T 4JF, UK
    • Corresponding Author InformationCorresponding author. Tel.: +44 20 7679 9148; Fax: +44 20 7679 9255.
  • ,
  • Robert A. Colbert, MD, PhD (Senior Investigator and Branch Chief)

      Affiliations

    • National Institutes of Health, Bldg. 10, CRC, Rm. 1-5142, 10 Center Drive, MSC 1102, Bethesda, MD 20892-1102, USA
    • Tel.: +1 301 443 8935; Fax: +1 301 480 5189.

References 

  1. Petty RE, Southwood TR, Manners P, et al. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol. 2004 Feb;31(2):390–392
  2. Symmons DP, Jones M, Osborne J, et al. Pediatric rheumatology in the United Kingdom: data from the British Pediatric Rheumatology Group National Diagnostic Register. J Rheumatol. 1996 Nov;23(11):1975–1980
  3. Adib N, Silman A, Thomson W. Outcome following onset of juvenile idiopathic inflammatory arthritis: I. frequency of different outcomes. Rheumatology (Oxford). 2005 Aug;44(8):995–1001
  4. Glass DN, Giannini EH. Juvenile rheumatoid arthritis as a complex genetic trait. Arthritis Rheum. 1999 Nov;42(11):2261–2268
  5. O'Shea FD, Boyle E, Riarh R, et al. Comparison of clinical and radiographic severity of juvenile-onset versus adult-onset ankylosing spondylitis. Ann Rheum Dis. 2008 Sep;9:
  6. Thomson W, Barrett JH, Donn R, et al. Juvenile idiopathic arthritis classified by the ILAR criteria: HLA associations in UK patients. Rheumatology (Oxford). 2002 Oct;41(10):1183–1189
  7. Prahalad S, Glass DN. A comprehensive review of the genetics of juvenile idiopathic arthritis. Pediatr Rheumatol Online J. 2008;6:11
  8. Burton PR, Clayton DG, Cardon LR, et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet. 2007 Nov;39(11):1329–1337
  9. Annunziato F, Cosmi L, Liotta F, et al. Type 17T helper cells-origins, features and possible roles in rheumatic disease. Nat Rev Rheumatol. 2009 Jun;5(6):325–331
  10. Duerr RH, Taylor KD, Brant SR, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science. 2006 Dec 1;314(5804):1461–1463
  11. Cargill M, Schrodi SJ, Chang M, et al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet. 2007 Feb;80(2):273–290
  12. Hammer GE, Gonzalez F, James E, et al. In the absence of aminopeptidase ERAAP, MHC class I molecules present many unstable and highly immunogenic peptides. Nat Immunol. 2007 Jan;8(1):101–108
  13. Cui X, Hawari F, Alsaaty S, et al. Identification of ARTS-1 as a novel TNFR1-binding protein that promotes TNFR1 ectodomain shedding. J Clin Invest. 2002 Aug;110(4):515–526
  14. Cui X, Rouhani FN, Hawari F, Levine SJ. Shedding of the type II IL-1 decoy receptor requires a multifunctional aminopeptidase, aminopeptidase regulator of TNF receptor type 1 shedding. J Immunol. 2003 Dec 15;171(12):6814–6819
  15. Cui X, Rouhani FN, Hawari F, Levine SJ. An aminopeptidase, ARTS-1, is required for interleukin-6 receptor shedding. J Biol Chem. 2003 Aug 1;278(31):28677–28685
  16. Hinks A, Worthington J, Thomson W. The association of PTPN22 with rheumatoid arthritis and juvenile idiopathic arthritis. Rheumatology (Oxford). 2006 Apr;45(4):365–368
  17. Hinks A, Ke X, Barton A, et al. Association of the IL2RA/CD25 gene with juvenile idiopathic arthritis. Arthritis Rheum. 2009 Jan;60(1):251–257
  18. Ramanan AV, Grom AA. Does systemic-onset juvenile idiopathic arthritis belong under juvenile idiopathic arthritis?. Rheumatology (Oxford). 2005 Nov;44(11):1350–1353
  19. Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu Rev Immunol. 2009;27:621–668
  20. Ogilvie EM, Fife MS, Thompson SD, et al. The -174G allele of the interleukin-6 gene confers susceptibility to systemic arthritis in children: a multicenter study using simplex and multiplex juvenile idiopathic arthritis families. Arthritis Rheum. 2003 Nov;48(11):3202–3206
  21. Ogilvie EM, Khan A, Hubank M, et al. Specific gene expression profiles in systemic juvenile idiopathic arthritis. Arthritis Rheum. 2007 Jun;56(6):1954–1965
  22. Barnes MG, Grom AA, Thompson SD, et al. Subtype-specific peripheral blood gene expression profiles in recent-onset juvenile idiopathic arthritis. Arthritis Rheum. 2009 Jul;60(7):2102–2112
  23. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007 Jun 7;447(7145):661–678
  24. Hinks A, Barton A, Shephard N, et al. Identification of a novel susceptibility locus for juvenile idiopathic arthritis by genome-wide association analysis. Arthritis Rheum. 2009 Jan;60(1):258–263
  25. Thompson SD, Moroldo MB, Guyer L, et al. A genome-wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkage. Arthritis Rheum. 2004 Sep;50(9):2920–2930
  26. Gregersen PK. Pathways to gene identification in rheumatoid arthritis: PTPN22 and beyond. Immunol Rev. 2005 Apr;204:74–86
  27. Allantaz F, Chaussabel D, Stichweh D, et al. Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade. J Exp Med. 2007 Sep 3;204(9):2131–2144
  28. Fall N, Barnes M, Thornton S, et al. Gene expression profiling of peripheral blood from patients with untreated new-onset systemic juvenile idiopathic arthritis reveals molecular heterogeneity that may predict macrophage activation syndrome. Arthritis Rheum. 2007 Nov;56(11):3793–3804
  29. Zhang K, Biroschak J, Glass DN, et al. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. Arthritis Rheum. 2008 Sep;58(9):2892–2896
  30. Hunter P, Nistala K, Jina N, et al. Biological predictors of extension of oligoarticular juvenile idiopathic arthritis from synovial fluid cellular composition and gene expression. Arthritis Rheum (in press).
  31. Griffin TA, Barnes MG, Ilowite NT, et al. Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. Arthritis Rheum. 2009 Jul;60(7):2113–2123
  32. Smith JA, Marker-Hermann E, Colbert RA. Pathogenesis of ankylosing spondylitis: current concepts. Best Pract Res Clin Rheumatol. 2006 Jun;20(3):571–591
  33. May E, Dorris ML, Satumtira N, et al. CD8 alpha beta T cells are not essential to the pathogenesis of arthritis or colitis in HLA-B27 transgenic rats. J Immunol. 2003 Jan 15;170(2):1099–1105
  34. Taurog JD, Dorris ML, Satumtira N, et al. Spondylarthritis in HLA-B27/human beta(2)-microglobulin-transgenic rats is not prevented by lack of CD8. Arthritis Rheum. 2009 Jul;60(7):1977–1984
  35. Turner MJ, DeLay ML, Bai S, et al. HLA-B27 up-regulation causes accumulation of misfolded heavy chains and correlates with the magnitude of the unfolded protein response in transgenic rats: implications for the pathogenesis of spondylarthritis-like disease. Arthritis Rheum. 2007 Jan;56(1):215–223
  36. DeLay ML, Turner MJ, Klenk EI. HLA-B27 misfolding and the unfolded protein response augment IL-23 production and are associated with Th17 activation in transgenic rats. Arthritis Rheum. 2009;60:2633–2643
  37. Jaenisch R, Bird A. Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nat Genet. 2003 Mar;33(Suppl.):245–254
  38. Hesson LB, Dunwell TL, Cooper WN, et al. The novel RASSF6 and RASSF10 candidate tumour suppressor genes are frequently epigenetically inactivated in childhood leukaemias. Mol Cancer. 2009;8:42
  39. Hewagama A, Richardson B. The genetics and epigenetics of autoimmune diseases. J Autoimmun. 2009 Aug;33(1):3–11
  40. Quddus J, Johnson KJ, Gavalchin J, et al. Treating activated CD4+T cells with either of two distinct DNA methyltransferase inhibitors, 5-azacytidine or procainamide, is sufficient to cause a lupus-like disease in syngeneic mice. J Clin Invest. 1993 Jul;92(1):38–53
  41. Yung RL, Quddus J, Chrisp CE, et al. Mechanism of drug-induced lupus. I. Cloned Th2 cells modified with DNA methylation inhibitors in vitro cause autoimmunity in vivo. J Immunol. 1995 Mar 15;154(6):3025–3035
  42. Cornacchia E, Golbus J, Maybaum J, et al. Hydralazine and procainamide inhibit T cell DNA methylation and induce autoreactivity. J Immunol. 1988 Apr 1;140(7):2197–2200
  43. Alcolado JC, Laji K, Gill-Randall R. Maternal transmission of diabetes. Diabet Med. 2002 Feb;19(2):89–98
  44. Richardson B, Scheinbart L, Strahler J, et al. Evidence for impaired T cell DNA methylation in systemic lupus erythematosus and rheumatoid arthritis. Arthritis Rheum. 1990 Nov;33(11):1665–1673
  45. Schwab J, Illges H. Silencing of CD21 expression in synovial lymphocytes is independent of methylation of the CD21 promoter CpG island. Rheumatol Int. 2001 May;20(4):133–137
  46. Wilson CB, Rowell E, Sekimata M. Epigenetic control of T-helper-cell differentiation. Nat Rev Immunol. 2009 Feb;9(2):91–105
  47. Calin GA, Croce CM. MicroRNA signatures in human cancers. Nat Rev Cancer. 2006 Nov;6(11):857–866
  48. Pauley KM, Satoh M, Chan AL, et al. Upregulated miR-146a expression in peripheral blood mononuclear cells from rheumatoid arthritis patients. Arthritis Res Ther. 2008;10(4):R101
  49. Stanczyk J, Pedrioli DM, Brentano F, et al. Altered expression of MicroRNA in synovial fibroblasts and synovial tissue in rheumatoid arthritis. Arthritis Rheum. 2008 Apr;58(4):1001–1009

PII: S1521-6942(09)00081-3

doi: 10.1016/j.berh.2009.08.001

Best Practice & Research Clinical Rheumatology
Volume 23, Issue 5 , Pages 589-597 , October 2009