Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis

Arthritis and Rheumatism

Volumn 60, Issue 7, 2009, Pages 2124-2130

  Prahalad, Sampath ^a   Hansen, Sterling ^b   Whiting, April ^b   Guthery, Stephen L ^b   Clifford, Bronte ^b   McNally, Bernadette ^b   Zeft, Andrew S ^b   Bohnsack, John F ^b   Jorde, Lynn B ^b  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOIMMUNITY; C12ORF30 GENE; CASE CONTROL STUDY; CHILD; CONTROLLED STUDY; FEMALE; GENE; GENE LOCUS; GENETIC RISK; GENOTYPE; HUMAN; HUMAN TISSUE; IL2RA GENE; JUVENILE RHEUMATOID ARTHRITIS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PTPN2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; STAT4 GENE; TNFAIP3 GENE;

ADULT; ARTHRITIS; ARTHRITIS, JUVENILE RHEUMATOID; ARTHRITIS, RHEUMATOID; AUTOIMMUNE DISEASES; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERLEUKIN-2 RECEPTOR ALPHA SUBUNIT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; STAT4 TRANSCRIPTION FACTOR; TNF RECEPTOR-ASSOCIATED FACTOR 1;

EID: 67650065021     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.24618     Document Type: Article

References (33)

1. Petty RE, Southwood TR, Manners P, Baum J, Glass DN, Goldenberg J, et al. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol 2004;31:390-2.
2. Prahalad S, Ryan MH, Shear ES, Thompson SD, Giannini EH, Glass DN. Juvenile rheumatoid arthritis: linkage to HLA demonstrated by allele sharing in affected sibpairs. Arthritis Rheum 2000;43:2335-8.
3. Prahalad S, Glass DN. A comprehensive review of the genetics of juvenile idiopathic arthritis. Pediatr Rheumatol Online J 2008;6:11.
4. Stagi S, Giani T, Simonini G, Falcini F. Thyroid function, autoimmune thyroiditis and coeliac disease in juvenile idiopathic arthritis. Rheumatology (Oxford) 2005;44:517-20.
5. Prahalad S, Shear ES, Thompson SD, Giannini EH, Glass DN. Increased prevalence of familial autoimmunity in simplex and multiplex families with juvenile rheumatoid arthritis. Arthritis Rheum 2002;46:1851-6.
6. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-78.
7. Plenge RM, Cotsapas C, Davies L, Price AL, de Bakker PI, Maller J, et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007;39:1477-82.
8. Plenge RM, Seielstad M, Padyukov L, Lee AT, Remmers EF, Ding B, et al. TRAF1-C5 as a risk locus for rheumatoid arthritis - a genomewide study. N Engl J Med 2007;357:1199-209.
9. Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW, et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007;357:977-86.
10. Kobayashi S, Ikari K, Kaneko H, Kochi Y, Yamamoto K, Shimane K, et al. Association of STAT4 with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in the Japanese population. Arthritis Rheum 2008;58:1940-6.
11. Taylor KE, Remmers EF, Lee AT, Ortmann WA, Plenge RM, Tian C, et al. Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus. PLoS Genet 2008;4:e1000084.
12. Lee HS, Remmers EF, Le JM, Kastner DL, Bae SC, Gregersen PK. Association of STAT4 with rheumatoid arthritis in the Korean population. Mol Med 2007;13:455-60.
13. Orozco G, Alizadeh BZ, Delgado-Vega AM, Gonzalez-Gay MA, Balsa A, Pascual-Salcedo D, et al. Association of STAT4 with rheumatoid arthritis: a replication study in three European populations. Arthritis Rheum 2008;58:1974-80.
14. Barton A, Thomson W, Ke X, Eyre S, Hinks A, Bowes J, 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;17:2274-9.
15. Palomino-Morales RJ, Rojas-Villarraga A, Gonzalez CI, Ramirez G, Anaya JM, Martin J. STAT4 but not TRAF1/C5 variants influence the risk of developing rheumatoid arthritis and systemic lupus erythematosus in Colombians. Genes Immun 2008;9:379-82.
16. Zervou MI, Sidiropoulos P, Petraki E, Vazgiourakis V, Krasoudaki E, Raptopoulou A, et al. Association of a TRAF1 and a STAT4 gene polymorphism with increased risk for rheumatoid arthritis in a genetically homogeneous population. Hum Immunol 2008;69:567-71.
17. Kawasaki A, Ito I, Hikami K, Ohashi J, Hayashi T, Goto D, et al. Role of STAT4 polymorphisms in systemic lupus erythematosus in a Japanese population: a case-control association study of the STAT1-STAT4 region. Arthritis Res Ther 2008;10:R113.
18. Martinez A, Varade J, Marquez A, Cenit MC, Espino L, Perdigones N, et al. Association of the STAT4 gene with increased susceptibility for some immune-mediated diseases. Arthritis Rheum 2008;58:2598-602.
19. Zervou MI, Mamoulakis D, Panierakis C, Boumpas DT, Goulielmos GN. STAT4: A risk factor for type 1 diabetes? Hum Immunol 2008;69:647-50.
20. Korman BD, Alba MI, Le JM, Alevizos I, Smith JA, Nikolov NP, et al. Variant form of STAT4 is associated with primary Sjögren's syndrome. Genes Immun 2008;9:267-70.
21. Becker KG, Simon RM, Bailey-Wilson JE, Freidlin B, Biddison WE, McFarland HF, et al. Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. Proc Natl Acad Sci U S A 1998;95:9979-84.
22. Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003;423:506-11.
23. Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, et al. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 2005;76:561-71.
24. Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007;39:857-64.
25. Boehringer S, Epplen JT, Krawczak M. Genetic association studies of bronchial asthma-a need for Bonferroni correction? [letter]. Hum Genet 2000;107:197.
26. Perneger TV. What's wrong with Bonferroni adjustments. BMJ 1998;316:1236-8.
27. Boone DL, Turer EE, Lee EG, Ahmad RC, Wheeler MT, Tsui C, et al. The ubiquitin-modifying enzyme A20 is required for termination of Toll-like receptor responses. Nat Immunol 2004;5:1052-60.
28. Wertz IE, O'Rourke KM, Zhou H, Eby M, Aravind L, Seshagiri S, et al. De-ubiquitination and ubiquitin ligase domains of A20 downregulate NF-κB signalling. Nature 2004;430:694-9.
29. Thomson W, Barton A, Ke X, Eyre S, Hinks A, Bowes J, et al. Rheumatoid arthritis association at 6q23. Nat Genet 2007;39:1431-3.
30. Graham RR, Cotsapas C, Davies L, Hackett R, Lessard CJ, Leon JM, et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008;40:1059-61.
31. Watford WT, Hissong BD, Bream JH, Kanno Y, Muul L, O'Shea JJ. Signaling by IL-12 and IL-23 and the immunoregulatory roles of STAT4. Immunol Rev 2004;202:139-56.
32. Behrens EM, Finkel TH, Bradfield JP, Kim CE, Linton L, Casalunovo T, et al. Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis. Arthritis Rheum 2008;58:2206-7.
33. Albers HM, Kurreeman FA, Houwing-Duistermaat JJ, Brinkman DM, Kamphuis SS, Girschick HJ, et al. The TRAF1/C5 region is a risk factor for polyarthritis in juvenile idiopathic arthritis. Ann Rheum Dis 2008;67:1578-80.