The genetics of juvenile idiopathic arthriti what is new in 2010?

Current Rheumatology Reports

Volumn 12, Issue 2, 2010, Pages 87-93

  Angeles Han, Sheila ^a   Prahalad, Sampath ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Association; Autoimmune; Genetics; Juvenile idiopathic arthritis; Juvenile rheumatoid arthritis

Indexed keywords

BINDING PROTEIN; CASPASE RECRUITMENT DOMAIN PROTEIN 15; CD14 ANTIGEN; CD40 ANTIGEN; CRYOPYRIN; CYCLIN DEPENDENT KINASE 6; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; HLA ANTIGEN; HLA DR ANTIGEN; INTERLEUKIN 2 RECEPTOR ALPHA; INTERLEUKIN 2 RECEPTOR BETA; MANNOSE BINDING LECTIN 2; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 1; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; RANTES; SECONDARY LYMPHOID TISSUE CHEMOKINE; STAT4 PROTEIN; TUMOR NECROSIS FACTOR ALPHA; TUMOR NECROSIS FACTOR ALPHA INDUCED PROTEIN 3; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 1; UNCLASSIFIED DRUG;

AUTOIMMUNITY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; HEREDITY; HUMAN; JUVENILE RHEUMATOID ARTHRITIS; PHENOTYPE; REVIEW; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADOLESCENT; ARTHRITIS, JUVENILE RHEUMATOID; AUTOIMMUNITY; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERLEUKIN-2 RECEPTOR ALPHA SUBUNIT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; NUCLEAR PROTEINS; STAT4 TRANSCRIPTION FACTOR; TNF RECEPTOR-ASSOCIATED FACTOR 1;

EID: 77953476979     PISSN: 15233774     EISSN: 15346307     Source Type: Journal    
DOI: 10.1007/s11926-010-0087-0     Document Type: Review

References (51)

1. Ravelli A, Martini A: Juvenile idiopathic arthritis. Lancet 2007, 369:767-778.
2. 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, 31:390-392.
3. Clemens LE, Albert E, Ansell BM: Sibling pairs affected by chronic arthritis of childhood: evidence for a genetic predisposition. J Rheumatol 1985, 12:108-113.
4. Moroldo MB, Tague BL, Shear ES, et al.: Juvenile rheumatoid arthritis in affected sibpairs. Arthritis Rheum 1997, 40:1962-1966.
5. Prahalad S: Genetic analysis of juvenile rheumatoid arthritis: approaches to complex traits. Curr Probl Pediatr Adolesc Health Care 2006, 36:83-90.
6. Glass DN, Giannini EH: Juvenile rheumatoid arthritis as a complex genetic trait. Arthritis Rheum 1999, 42:2261-2268.
7. Prahalad S, Glass DN: A comprehensive review of the genetics of juvenile idiopathic arthritis. Pediatr Rheumatol Online J 2008, 6:11. This is a comprehensive systematic review of more than 100 non-HLA genetic associations in JIA.
8. Plenge RM: Rheumatoid arthritis genetics: 2009 update. Curr Rheumatol Rep 2009, 11:351-356. This review article describes updates on RA genetics.
9. Prahalad S, Ryan MH, Shear ES, et al.: Juvenile rheumatoid arthritis: linkage to HLA demonstrated by allele sharing in affected sibpairs. Arthritis Rheum 2000, 43:2335-2338.
10. Prahalad S: Genetics of juvenile idiopathic arthritis: an update. Curr Opin Rheumatol 2004, 16:588-594. (Pubitemid 39128329)
11. Phelan JD, Thompson SD, Glass DN: Susceptibility to JRA/JIA: complementing general autoimmune and arthritis traits. Genes Immun 2006, 7:1-10.
12. Macaubas C, Nguyen K, Milojevic D, et al.: Oligoarticular and polyarticular JIA: epidemiology and pathogenesis. Nat Rev Rheumatol 2009, 5:616-626. This review describes the epidemiology, genetics, and pathogenesis of JIA.
13. Watford WT, Hissong BD, Bream JH, et al.: Signaling by IL-12 and IL-23 and the immunoregulatory roles of STAT4. Immunol Rev 2004, 202:139-156.
14. Remmers EF, Plenge RM, Lee AT, et al.: STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007, 357:977-986.
15. Barton A, Thomson W, Ke X, et al.: Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility. Hum Mol Genet 2008, 17:2274-2279.
16. Martinez A, Varade J, Marquez A, et al.: Association of the STAT4 gene with increased susceptibility for some immune-mediated diseases. Arthritis Rheum 2008, 58:2598-2602.
17. Taylor KE, Remmers EF, Lee AT, et al.: Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus. PLoS Genet 2008, 4:e1000084.
18. Fung EY, Smyth DJ, Howson JM, et al.: Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus. Genes Immun 2009, 10:188-191. This was a case-control study of several autoimmune variants in a large T1D cohort.
19. Prahalad S, Hansen S, Whiting A, et al.: Variants in TNFAIP3, STAT4, and c12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis. Arthritis Rheum 2009, 60:2124-2130. This recent study describes various non-HLA associations with JIA.
20. Hinks A, Eyre S, Ke X, et al.: Overlap of disease susceptibility loci for rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA). Ann Rheum Dis 2009 Aug 11 (Epub ahead of print). This was a second study that investigated nine candidate loci for association with JIA using a large JIA cohort.
21. Plenge RM, Cotsapas C, Davies L, et al.: Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007, 39:1477-1482.
22. Plenge RM, Seielstad M, Padyukov L, et al.: TRAF1-c5 as a risk locus for rheumatoid arthritis - a genomewide study. N Engl J Med 2007, 357:1199-1209.
23. Kurreeman FA, Padyukov L, Marques RB, et al.: A candidate gene approach identifies the TRAF1/c5 region as a risk factor for rheumatoid arthritis. PLoS Med 2007, 4:e278.
24. (Published erratum appears in PLoS Med 2007, 4:e358.)
25. Albers HM, Kurreeman FA, Houwing-Duistermaat JJ, et al. The TRAF1/c5 region is a risk factor for polyarthritis in juvenile idiopathic arthritis. Ann Rheum Dis 2008, 67:1578-1580.
26. Behrens EM, Finkel TH, Bradfield JP, et al.: Association of the TRAF1-c5 locus on chromosome 9 with juvenile idiopathic arthritis. Arthritis Rheum 2008, 58:2206-2207.
27. Sakaguchi S, Sakaguchi N, Asano M, et al.: Immunologic self-tolerance maintained by activated T cells expressing IL-2 receptor alpha-chains (CD25). Breakdown of a single mechanism of self-tolerance causes various autoimmune diseases. J Immunol 1995, 155:1151-1164.
28. Wellcome Trust Case Control Consortium: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007, 447:661-678. This was a large GWAS in which 17,000 individuals with seven phenotypes and also controls were typed for more than 500,000 SNPs.
29. Hafler DA, Compston A, Sawcer S, et al.: Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 2007, 357:851-862.
30. Hinks A, Ke X, Barton A, et al.: Association of the IL2RA/CD25 gene with juvenile idiopathic arthritis. Arthritis Rheum 2009, 60:251-257. This association study of IL2RA included a replication cohort from North America.
31. Barton A, Eyre S, Ke X, et al.: Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes. Hum Mol Genet 2009, 18:2518-2522.
32. Coenen MJ, Gregersen PK: Rheumatoid arthritis: a view of the current genetic landscape. Genes Immun 2009, 10:101-111.
33. Plenge RM, Padyukov L, Remmers EF, et al.: Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: Association of susceptibility with PTPN22, CTLA4, and PADI4. Am J Hum Genet 2005, 77:1044-1060.
34. Martinez A, Perdigones N, Cenit MC, et al.: Chromosomal region 16p13: further evidence of increased predisposition to immune diseases. Ann Rheum Dis 2010, 69:309-311.
35. McGreal EP, Martinez-Pomares L, Gordon S: Divergent roles for c-type lectins expressed by cells of the innate immune system. Mol Immunol 2004, 41:1109-1121.
36. Skinningsrud B, Lie BA, Husebye ES, et al.: A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis. Ann Rheum Dis 2009 Sep 3 (Epub ahead of print). This was an association study of a CLEC16A variant with RA, JIA, T1D, and Addison's disease.
37. Plenge RM: Recent progress in rheumatoid arthritis genetics: one step towards improved patient care. Curr Opin Rheumatol 2009, 21:262-271.
38. Irigoyen P, Lee AT, Wener MH, et al.: Regulation of anti-cyclic citrullinated peptide antibodies in rheumatoid arthritis: contrasting effects of HLA-DR3 and the shared epitope alleles. Arthritis Rheum 2005, 52:3813-3818.
39. Verpoort KN, van Gaalen FA, van der Helm-van Mil AH, et al.: Association of HLA-DR3 with anti-cyclic citrullinated peptide antibody-negative rheumatoid arthritis. Arthritis Rheum 2005, 52:3058-3062.
40. Sigurdsson S, Padyukov L, Kurreeman FA, et al.: Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis. Arthritis Rheum 2007, 56:2202-2210.
41. Albers HM, Kurreeman FA, Stoeken-Rijsbergen G, et al.: Association of the autoimmunity locus 4q27 with juvenile idiopathic arthritis. Arthritis Rheum 2009, 60:901-904.
42. Day TG, Ramanan AV, Hinks A, et al.: Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis. Arthritis Rheum 2008, 58:2142-2146.
43. Gergely P Jr, Pazar B, Nagy ZB, et al.: Structural polymorphisms in the mannose-binding lectin gene are associated with juvenile idiopathic arthritis. J Rheumatol 2009, 36:843-847.
44. Yao TC, Tsai YC, Huang JL: Association of RANTES promoter polymorphism with juvenile rheumatoid arthritis. Arthritis Rheum 2009, 60:1173-1178.
45. Luster AD: Chemokines - chemotactic cytokines that mediate inflammation. N Engl J Med 1998, 338:436-445.
46. Zeng HS, Chen XY, Luo XP: The association with the -159c/t polymorphism in the promoter region of the CD14 gene and juvenile idiopathic arthritis in a Chinese Han population. J Rheumatol 2009, 36:2025-2028.
47. Pugin J, Heumann ID, Tomasz A, et al.: CD14 is a pattern recognition receptor. Immunity 1994, 1:509-516.
48. Jimenez-Morales S, Velazquez-Cruz R, Ramirez-Bello J, et al.: Tumor necrosis factor-alpha is a common genetic risk factor for asthma, juvenile rheumatoid arthritis, and systemic lupus erythematosus in a Mexican pediatric population. Hum Immunol 2009, 70:251-256.
49. Altshuler D, Daly MJ, Lander ES: Genetic mapping in human disease. Science 2008, 322:881-888.
50. 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, 60:258-263. This was the first GWAS in JIA.
51. Pont-Kingdon G, Bohnsack J, Sumner K, et al.: Lack of association between beta 2-adrenergic receptor polymorphisms and juvenile idiopathic arthritis. Scand J Rheumatol 2009, 38:91-95.