Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: Confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance

Arthritis Research and Therapy

Volumn 12, Issue 3, 2010, Pages

  Hollis Moffatt, Jade E ^a   Chen Xu, Michael ^a   Topless, Ruth ^a   Dalbeth, Nicola ^b   Gow, Peter J ^c   Harrison, Andrew A ^a   Highton, John ^a   Jones, Peter B B ^b   Nissen, Michael ^d   Smith, Malcolm D ^d   van Rij, Andre ^a   Jones, Gregory T ^a   Stamp, Lisa K ^e   Merriman, Tony R ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b UNIVERSITY OF AUCKLAND   (New Zealand)

^c MIDDLEMORE HOSPITAL   (New Zealand)

^d FLINDERS MEDICAL CENTRE   (Australia)

^e UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

HLA DR ANTIGEN; INTERLEUKIN 2; INTERLEUKIN 21; KIAA 1109 PROTEIN; PROTEIN; TENR PROTEIN; UNCLASSIFIED DRUG; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; INTERLEUKIN DERIVATIVE; MICROTUBULE ASSOCIATED PROTEIN;

ALLELE; ARTICLE; AUSTRALIA AND NEW ZEALAND; AUTOIMMUNITY; CAUCASIAN; CONTROLLED STUDY; FEMALE; GENE CLUSTER; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; META ANALYSIS (TOPIC); RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; AUSTRALIA; CASE CONTROL STUDY; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; NEW ZEALAND;

AGED; AGED, 80 AND OVER; ALLELES; ARTHRITIS, RHEUMATOID; AUSTRALIA; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GTPASE-ACTIVATING PROTEINS; HUMANS; INTERLEUKIN-2; INTERLEUKINS; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; NEW ZEALAND; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 77953492918     PISSN: 14786354     EISSN: 14786362     Source Type: Journal    
DOI: 10.1186/ar3053     Document Type: Article

References (43)

1. Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK, Harley JB. The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis. Rheumatology (Oxford) 2007, 46:49-56. 10.1093/rheumatology/kel170, 16760194.
2. Plenge RM, Padyukov L, Remmers EF, Purcell S, Lee AT, Karlson EW, Wolfe F, Kastner DL, Alfredsson L, Altshuler D, Gregersen PK, Klareskog L, Rioux JD. 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. 10.1086/498651, 1285162, 16380915.
3. Plenge RM, Cotsapas C, Davies L, Price AL, de Bakker PI, Maller J, Pe'er I, Burtt NP, Blumenstiel B, DeFelice M, Parkin M, Barry R, Winslow W, Healy C, Graham RR, Neale BM, Izmailova E, Roubenoff R, Parker AN, Glass R, Karlson EW, Maher N, Hafler DA, Lee DM, Seldin MF, Remmers EF, Lee AT, Padyukov L, Alfredsson L, Coblyn J, et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007, 39:1477-1482. 10.1038/ng.2007.27, 2652744, 17982456.
4. Thomson W, Barton A, Ke X, Eyre S, Hinks A, Bowes J, Donn R, Symmons D, Hider S, Bruce IN, Wilson AG, Marinou I, Morgan A, Emery P, Carter A, Steer S, Hocking L, Reid DM, Wordsworth P, Harrison P, Strachan D, Worthington J. Wellcome Trust Case Control Consortium, YEAR Consortium Rheumatoid arthritis association at 6q23. Nat Genet 2007, 39:1431-1433. 10.1038/ng.2007.32, 2674282, 17982455, Wellcome Trust Case Control Consortium, YEAR Consortium.
5. Barton A, Thomson W, Ke X, Eyre S, Hinks A, Bowes J, Gibbons L, Plant D, Wilson AG, Marinou I, Morgan A, Emery P, Steer S, Hocking L, Reid DM, Wordsworth P, Harrison P, Worthington J. Wellcome Trust Case Control Consortium, YEAR consortium 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. 10.1093/hmg/ddn128, 2465799, 18434327, Wellcome Trust Case Control Consortium, YEAR consortium.
6. Daha NA, Kurreeman FA, Marques RB, Stoeken-Rijsbergen G, Verduijn W, Huizinga TW, Toes RE. Confirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritis. Arthritis Rheum 2009, 60:1255-1260. 10.1002/art.24503, 19404967.
7. Plenge RM, Seielstad M, Padyukov L, Lee AT, Remmers EF, Ding B, Liew A, Khalili H, Chandrasekaran A, Davies LR, Li W, Tan AK, Bonnard C, Ong RT, Thalamuthu A, Pettersson S, Liu C, Tian C, Chen WV, Carulli JP, Beckman EM, Altshuler D, Alfredsson L, Criswell LA, Amos CI, Seldin MF, Kastner DL, Klareskog L, Gregersen PK. TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. N Engl J Med 2007, 357:1199-1209. 10.1056/NEJMoa073491, 2636867, 17804836.
8. Chang M, Rowland CM, Garcia VE, Schrodi SJ, Catanese JJ, van der Helm-van Mil AH, Ardlie KG, Amos CI, Criswell LA, Kastner DL, Gregersen PK, Kurreeman FA, Toes RE, Huizinga TW, Seldin MF, Begovich AB. A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2. PLoS Genet 2008, 4:e1000107. 10.1371/journal.pgen.1000107, 2481282, 18648537.
9. Raychaudhuri S, Remmers EF, Lee AT, Hackett R, Guiducci C, Burtt NP, Gianniny L, Korman BD, Padyukov L, Kurreeman FA, Chang M, Catanese JJ, Ding B, Wong S, van der Helm-van Mil AH, Neale BM, Coblyn J, Cui J, Tak PP, Wolbink GJ, Crusius JB, van der Horst-Bruinsma IE, Criswell LA, Amos CI, Seldin MF, Kastner DL, Ardlie KG, Alfredsson L, Costenbader KH, Altshuler D, et al. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet 2008, 40:1216-1223. 10.1038/ng.233, 2757650, 18794853.
10. Orozco G, Eyre S, Hinks A, Ke X, Wilson AG, Bax DE, Morgan AW, Emery P, Steer S, Hocking L, Reid DM, Wordsworth P, Harrison P, Thomson W, Barton A, Worthington J. Association of CD40 with rheumatoid arthritis confirmed in a large UK case-control study. Ann Rheum Dis 2009,
11. Gregersen PK, Amos CI, Lee AT, Lu Y, Remmers EF, Kastner DL, Seldin MF, Criswell LA, Plenge RM, Holers VM, Mikuls TR, Sokka T, Moreland LW, Bridges SL, Xie G, Begovich AB, Siminovitch KA. REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. Nat Genet 2009, 41:820-823. 10.1038/ng.395, 2705058, 19503088.
12. Barton A, Eyre S, Ke X, Hinks A, Bowes J, Flynn E, Martin P, Wilson AG, Morgan AW, Emery P, Steer S, Hocking LJ, Reid DM, Harrison P, Wordsworth P, Thomson W, Worthington J. YEAR Consortium, BIRAC Consortium 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. 10.1093/hmg/ddp177, 2694689, 19359276, YEAR Consortium, BIRAC Consortium.
13. Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey R, Nejentsev S, Field SF, Payne F, Lowe CE, Szeszko JS, Hafler JP, Zeitels L, Yang JH, Vella A, Nutland S, Stevens HE, Schuilenburg H, Coleman G, Maisuria M, Meadows W, Smink LJ, Healy B, Burren OS, Lam AA, Ovington NR, Allen J, Adlem E, Leung HT, et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007, 39:857-864. 10.1038/ng2068, 2492393, 17554260.
14. Festen EA, Goyette P, Scott R, Annese V, Zhernakova A, Lian J, Lefèbvre C, Brant SR, Cho JH, Silverberg MS, Taylor KD, de Jong DJ, Stokkers PC, McGovern D, Palmieri O, Achkar JP, Xavier RJ, Daly MJ, Duerr RH, Wijmenga C, Weersma RK, Rioux JD. Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis. Gut 2009, 58:799-804. 10.1136/gut.2008.166918, 2757103, 19201773.
15. Márquez A, Orozco G, Martínez A, Palomino-Morales R, Fernández-Arquero M, Mendoza JL, Taxonera C, Díaz-Rubio M, Gómez-García M, Nieto A, López-Nevot MA, de la Concha EG, Martín J, Urcelay E. Novel association of the interleukin 2-interleukin 21 region with inflammatory bowel disease. Am J Gastroenterol 2009, 104:1968-1975. 10.1038/ajg.2009.224, 19471255.
16. Garner CP, Murray JA, Ding YC, Tien Z, van Heel DA, Neuhausen SL. Replication of celiac disease UK genome-wide association study results in a US population. Hum Mol Genet 2009, 18:4219-4225. 10.1093/hmg/ddp364, 2758145, 19648293.
17. Sawalha AH, Kaufman KM, Kelly JA, Adler AJ, Aberle T, Kilpatrick J, Wakeland EK, Li QZ, Wandstrat AE, Karp DR, James JA, Merrill JT, Lipsky P, Harley JB. Genetic association of interleukin-21 polymorphisms with systemic lupus erythematosus. Ann Rheum Dis 2008, 67:458-461. 10.1136/ard.2007.075424, 17720724.
18. Liu Y, Helms C, Liao W, Zaba LC, Duan S, Gardner J, Wise C, Miner A, Malloy MJ, Pullinger CR, Kane JP, Saccone S, Worthington J, Bruce I, Kwok PY, Menter A, Krueger J, Barton A, Saccone NL, Bowcock AM. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet 2008, 4:e1000041. 10.1371/journal.pgen.1000041, 2274885, 18369459.
19. Albers HM, Kurreeman FA, Stoeken-Rijsbergen G, Brinkman DM, Kamphuis SS, van Rossum MA, Girschick HJ, Wouters C, Saurenmann RK, Hoppenreijs E, Slagboom P, Houwing-Duistermaat JJ, Verduijn W, Huizinga TW, Ten Cate R, Toes RE, Schilham MW. Association of the autoimmunity locus 4q27 with juvenile idiopathic arthritis. Arthritis Rheum 2009, 60:901-904. 10.1002/art.24296, 19248117.
20. Teixeira VH, Pierlot C, Migliorini P, Balsa A, Westhovens R, Barrera P, Alves H, Vaz C, Fernandes M, Pascual-Salcedo D, Bombardieri S, Dequeker J, Radstake TR, Van Riel P, van de Putte L, Lopes-Vaz A, Bardin T, Prum B, Cornélis F, Petit-Teixeira E, . European Consortium on Rheumatoid Arthritis Families Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study. Arthritis Res Ther 2009, 11:R45. 2688193, 19302705, European Consortium on Rheumatoid Arthritis Families.
21. Zhernakova A, Alizadeh BZ, Bevova M, van Leeuwen MA, Coenen MJ, Franke B, Franke L, Posthumus MD, van Heel DA, van der Steege G, Radstake TR, Barrera P, Roep BO, Koeleman BP, Wijmenga C. Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases. Am J Hum Genet 2007, 81:1284-1288. 10.1086/522037, 2276343, 17999365.
22. 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. 10.1038/nature05911, 2719288, 17554300, Wellcome Trust Case Control Consortium.
23. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS, Medgser TA, Mitchell DM, Neustadt DH, Pinals RS, Schaller JG, Wilder RL, Hunde GG. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988, 31:315-324. 10.1002/art.1780310302, 3358796.
24. Jones GT, van Rij AM. Regarding "Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association". J Vasc Surg 2009, 50:1246-1247. 10.1016/j.jvs.2009.07.098, 19878796.
25. Marchini J, Howie B, Myers S, McVean G, Donnelly P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nature Genetics 2007, 39:906-913. 10.1038/ng2088, 17572673.
26. PLINK: Whole genome data analysis toolset. , http://pngu.mgh.harvard.edu/~purcell/plink/
27. Fisher RA, Mosteller F. Questions and Answers. The American Statistician 1948, 2:30-31.
28. Coenen MJ, Trynka G, Heskamp S, Franke B, van Diemen CC, Smolonska J, van Leeuwen M, Brouwer E, Boezen MH, Postma DS, Platteel M, Zanen P, Lammers JW, Groen HJ, Mali WP, Mulder CJ, Tack GJ, Verbeek WH, Wolters VM, Houwen RH, Mearin ML, van Heel DA, Radstake TR, van Riel PL, Wijmenga C, Barrera P, Zhernakova A. Common and different genetic background for rheumatoid arthritis and coeliac disease. Hum Mol Genet 2009, 18:4195-4203. 10.1093/hmg/ddp365, 19648290.
29. Maiti AK, Kim-Howard X, Viswanathan P, Guillén L, Rojas-Villarraga A, Deshmukh H, Direskeneli H, Saruhan-Direskeneli G, Cañas C, Tobön GJ, Sawalha AH, Cherñavsky AC, Anaya JM, Nath SK. Confirmation of an association between rs6822844 at the Il2-Il21 region and multiple autoimmune diseases: evidence of a general susceptibility locus. Arthritis Rheum 2010, 62:323-329. 10.1002/art.27222, 20112382.
30. Stahl EA, Raychaudhuri S, Remmers EF, Xie G, Eyre S, Thomson BP, Li Y, Kurreeman FA, Zhernakova A, Hinks A, Guiducci C, Chen R, Alfredsson L, Amos CI, Ardlie KG, Barton A, Bowes J, Brouwer E, Burtt NP, Catanese JJ, Coblyn J, Coenen MJ, Costenbader KH, Criswell LA, Crusius JB, Cui J, de Bakker PI, De Jager PL, Ding B, et al. BIRAC Consortium Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nature Genetics 2010, BIRAC Consortium.
31. Yang L, Anderson DE, Baecher-Allan C, Hastings WD, Bettelli E, Oukka M, Kuchroo VK, Hafler DA. IL-21 and TGF-beta are required for differentiation of human T(H)17 cells. Nature 2008, 454:350-352. 10.1038/nature07021, 2760130, 18469800.
32. Mangan PR, Harrington LE, O'Quinn DB, Helms WS, Bullard DC, Elson CO, Hatton RD, Wahl SM, Schoeb TR, Weaver CT. Transforming growth factor-beta induces development of the T(H)17 lineage. Nature 2006, 441:231-234. 10.1038/nature04754, 16648837.
33. Veldhoen M, Stockinger B. TGFbeta1, a "Jack of all trades": the link with pro-inflammatory IL-17-producing T cells. Trends Immunol 2006, 27:358-361. 10.1016/j.it.2006.06.001, 16793343.
34. Jüngel A, Distler JH, Kurowska-Stolarska M, Seemayer CA, Seibl R, Forster A, Michel BA, Gay RE, Emmrich F, Gay S, Distler O. Expression of interleukin-21 receptor, but not interleukin-21, in synovial fibroblasts and synovial macrophages of patients with rheumatoid arthritis. Arthritis Rheum 2004, 50:1468-1476. 10.1002/art.20218, 15146416.
35. Li J, Shen W, Kong K, Liu Z. Interleukin-21 induces T-cell activation and proinflammatory cytokine secretion in rheumatoid arthritis. Scand J Immunol 2006, 64:515-522. 10.1111/j.1365-3083.2006.01795.x, 17032244.
36. Young DA, Hegen M, Ma HL, Whitters MJ, Albert LM, Lowe L, Senices M, Wu PW, Sibley B, Leathurby Y, Brown TP, Nickerson-Nutter C, Keith JC, Collins M. Blockade of the interleukin-21/interleukin-21 receptor pathway ameliorates disease in animal models of rheumatoid arthritis. Arthritis Rheum 2007, 56:1152-1163. 10.1002/art.22452, 17393408.
37. Awasthi A, Kuchroo VK. Th17 cells: from precursors to players in inflammation and infection. Int Immunol 2009, 21:489-498. 10.1093/intimm/dxp021, 2675030, 19261692.
38. Glas J, Stallhofer J, Ripke S, Wetzke M, Pfennig S, Klein W, Epplen JT, Griga T, Schiemann U, Lacher M, Koletzko S, Folwaczny M, Lohse P, Göke B, Ochsenkühn T, Müller-Myhsok B, Brand S. Novel genetic risk markers for ulcerative colitis in the IL2/IL21 region are in epistasis with IL23R and suggest a common genetic background for ulcerative colitis and celiac disease. Am J Gastroenterol 2009, 104:1737-1744. 10.1038/ajg.2009.163, 19455118.
39. Stamp LK, Easson A, Pettersson L, Highton J, Hessian PA. Monocyte derived interleukin (IL)-23 is an important determinant of synovial IL-17A expression in rheumatoid arthritis. J Rheum 2009, 36:2403-2408. 10.3899/jrheum.081304, 19797506.
40. van Heel DA, Franke L, Hunt KA, Gwilliam R, Zhernakova A, Inouye M, Wapenaar MC, Barnardo MC, Bethel G, Holmes GK, Feighery C, Jewell D, Kelleher D, Kumar P, Travis S, Walters JR, Sanders DS, Howdle P, Swift J, Playford RJ, McLaren WM, Mearin ML, Mulder CJ, McManus R, McGinnis R, Cardon LR, Deloukas P, Wijmenga C. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet 2007, 39:827-829. 10.1038/ng2058, 2274985, 17558408.
41. Romanos J, Barisani D, Trynka G, Zhernakova A, Bardella MT, Wijmenga C. Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease. J Med Genet 2009, 46:60-63. 10.1136/jmg.2008.061457, 18805825.
42. Hunt KA, Zhernakova A, Turner G, Heap GA, Franke L, Bruinenberg M, Romanos J, Dinesen LC, Ryan AW, Panesar D, Gwilliam R, Takeuchi F, McLaren WM, Holmes GK, Howdle PD, Walters JR, Sanders DS, Playford RJ, Trynka G, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, O'Morain C, Kennedy NP, Kelleher D, Pennington DJ, Strachan DP, McArdle WL, et al. Newly identified genetic risk variants for celiac disease related to the immune response. Nat Genet 2008, 40:395-402. 10.1038/ng.102, 2673512, 18311140.
43. Barrett JC, Clayton DG, Concannon P, Akolkar B, Cooper JD, Erlich HA, Julier C, Morahan G, Nerup J, Nierras C, Plagnol V, Pociot F, Schuilenburg H, Smyth DJ, Stevens H, Todd JA, Walker NM, Rich SS, . The Type 1 Diabetes Genetics Consortium Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet 2009, The Type 1 Diabetes Genetics Consortium.