Evaluation of the rheumatoid arthritis susceptibility loci HLA-DRB1, PTPN22, OLIG3/TNFAIP3, STAT4 and TRAF1/C5 in an inception cohort

Arthritis Research and Therapy

Volumn 12, Issue 2, 2010, Pages

  Morgan, Ann W ^a   Robinson, James I ^a   Conaghan, Philip G ^a   Martin, Stephen G ^a   Hensor, Elizabeth M A ^a   Morgan, Michael D ^a   Steiner, Lori ^b   Erlich, Henry A ^b   Gooi, Hock Chye ^c   Barton, Anne ^d   Worthington, Jane ^d   Emery, Paul ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b ROCHE MOLECULAR SYSTEMS   (United States)

^c ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HLA DR ANTIGEN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; STAT4 PROTEIN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 1; AUTOANTIBODY; BIOLOGICAL MARKER; CYCLIC CITRULLINATED PEPTIDE; CYCLOPEPTIDE; EPITOPE; HLA-DRB1 ANTIGEN; PROTEIN; RHEUMATOID FACTOR;

ADULT; ARTICLE; CLINICAL ASSESSMENT TOOL; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENOTYPE; HEALTH ASSESSMENT QUESTIONNAIRE; HUMAN; MAJOR CLINICAL STUDY; MALE; MARKER GENE; RHEUMATOID ARTHRITIS; SWOLLEN JOINT COUNT; TNFAIP3 GENE; BLOOD; COHORT ANALYSIS; GENETIC PREDISPOSITION; GENETICS; HEALTH STATUS; HOSPITALIZATION; IMMUNOLOGY; JOINT; METABOLISM; MIDDLE AGED; PATHOLOGY; PATHOPHYSIOLOGY;

ARTHRITIS, RHEUMATOID; AUTOANTIBODIES; BIOLOGICAL MARKERS; COHORT STUDIES; EPITOPES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEALTH STATUS; HLA-DR ANTIGENS; HUMANS; JOINTS; MALE; MIDDLE AGED; PEPTIDES, CYCLIC; PROTEINS; RHEUMATOID FACTOR; SEVERITY OF ILLNESS INDEX;

EID: 77950456388     PISSN: 14786354     EISSN: 14786362     Source Type: Journal    
DOI: 10.1186/ar2969     Document Type: Article

References (27)

1. Symmons D, Turner G, Webb R, Asten P, Barrett E, Lunt M, Scott D, Silman A. The prevalence of rheumatoid arthritis in the United Kingdom: new estimates for a new century. Rheumatology (Oxford) 2002, 41:793-800. 10.1093/rheumatology/41.7.793, 12096230.
2. MacGregor AJ, Snieder H, Rigby AS, Koskenvuo M, Kaprio J, Aho K, Silman AJ. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis Rheum 2000, 43:30-37. 10.1002/1529-0131(200001)43:1<30::AID-ANR5>3.0.CO;2-B, 10643697.
3. MacKay K, Eyre S, Myerscough A, Milicic A, Barton A, Laval S, Barrett J, Lee D, White S, John S, MacKay K, Eyre S, Myerscough A, Milicic A, Barton A, Laval S, Barrett J, Lee D, White S, John S, Brown MA, Bell J, Silman A, Ollier W, Wordsworth P, Worthington J. Whole-genome linkage analysis of rheumatoid arthritis susceptibility loci in 252 affected sibling pairs in the United Kingdom. Arthritis Rheum 2002, 46:632-639. 10.1002/art.10147, 11920398.
4. 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.
5. Xavier RJ, Rioux JD. Genome-wide association studies: a new window into immune-mediated diseases. Nat Rev Immunol 2008, 8:631-643. 10.1038/nri2361, 2750781, 18654571.
6. The 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, The Wellcome Trust Case Control Consortium.
7. Barton A, Thomson W, Ke X, Eyre S, Hinks A, Bowes J, Gibbons L, Plant D, Wilson AG, Barton A, Thomson W, Ke X, Eyre S, Hinks A, Bowes J, Gibbons L, Plant D, Wilson AG, Marinou I, Morgan AW, Emery P, Steer S, Hocking L, Reid DM, Wordsworth P, Harrison P, Worthington J. Wellcome Trust Case Control Consortium, 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, Wellcome Trust Case Control Consortium, YEAR consortium.
8. Thomson W, Barton A, Ke X, Eyre S, Hinks A, Bowes J, Donn R, Symmons D, Hider S, Bruce IN, 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.
9. Bowes J, Barton A. Recent advances in the genetics of RA susceptibility. Rheumatology (Oxford) 2008, 47:399-402. 10.1093/rheumatology/ken005, 18263596.
10. Helm-van Mil AHM, Huizinga TWJ. Advances in the genetics of rheumatoid arthritis point to subclassification into distinct disease subsets. Arthritis Res Ther 2008, 10:205. 10.1186/ar2384, 2453775, 18394179.
11. Lee HS, Remmers EF, Le JM, Kastner DL, Bae SC, Gregersen PK. Association of STAT4 with rheumatoid arthritis in the Korean population. Arthritis Rheum 2008, 58:2598-2602. 10.1002/art.23220, 18759272.
12. Kobayashi S, Ikari K, Kaneko H, Kochi Y, Yamamoto K, Shimane K, Nakamura Y, Toyama Y, Mochizuki T, Tsukahara S, Kawaguchi Y, Terai C, Hara M, Tomatsu T, Yamanaka H, Horiuchi T, Tao K, Yasutomo K, Hamada D, Yasui N, Inoue H, Itakura M, Okamoto H, Kamatani N, Momohara S. Association of STAT4 with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in the Japanese population. Arthritis Rheum 2008, 58:1940-1946. 10.1002/art.23494, 18576330.
13. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS, Arnett FC, Edworth SM, Bloch DA, McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS, Medsger TA, Mitchell DM, Neustadt DH, Pinals RS, Schaller JG, Sharp JT, Wilder RL, Hunder 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.
14. Morgan AW, Thompson W, Martin SG, Carter AM, Erlich HA, Barton A, Hocking L, Reid DM, Morgan AW, Thompson W, Martin SG, Carter AM, Erlich HA, Barton A, Hocking L, Reid DM, Harrison P, Wordsworth BP, Steer S, Worthington J, Emery P, Wilson AG, Barrett JH. YEAR consortium, UKRAG Consortium, YEAR consortium, UKRAG Consortium Re-evaluation of the interaction between HLA-DRB1 SE alleles, PTPN22 and smoking in determining the susceptibility to autoantibody positive and negative rheumatoid arthritis in a large UK Caucasian population. Arthritis Rheum 2009, 60:2565-2576. 10.1002/art.24752, 19714585, YEAR consortium, UKRAG Consortium, YEAR consortium, UKRAG Consortium.
15. Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW, de Bakker PI, Le JM, Lee HS, Batliwalla F, Li W, Masters SL, Booty MG, Carulli JP, Padyukov L, Alfredsson L, Klareskog L, Chen WV, Amos CI, Criswell LA, Seldin MF, Kastner DL, Gregersen PK. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007, 357:977-986. 10.1056/NEJMoa073003, 2630215, 17804842.
16. Graham RR, Cotsapas C, Davies L, Hackett R, Lessard CJ, Leon JM, Burtt NP, Guiducci C, Parkin M, Gates C, Plenge RM, Behrens TW, Wither JE, Rioux JD, Fortin PR, Graham DC, Wong AK, Vyse TJ, Daly MJ, Altshuler D, Moser KL, Gaffney PM. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008, 40:1059-1061. 10.1038/ng.200, 2772171, 19165918.
17. Musone SL, Taylor KE, Lu TT, Nititham J, Ferreira RC, Ortmann W, Shifrin N, Petri MA, Kamboh MI, Manzi S, Seldin MF, Gregersen PK, Behrens TW, Ma A, Kwok PY, Criswell LA. Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet 2008, 40:1062-1064. 10.1038/ng.202, 19165919.
18. Wellcome Trust Case Control Consortium, The Australo-Anglo-American Spondilitis Consortium Association scan of 14,500 nonsynonymous SNPs in four disease identifies autoimmunity variants. Nat Genet 2007, 39:1329-1337. 10.1038/ng.2007.17, 2680141, 17952073, Wellcome Trust Case Control Consortium, The Australo-Anglo-American Spondilitis Consortium.
19. Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmada MM, Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmada MM, Bitton A, Dassopoulos T, Datta LW, Green T, Griffiths AM, Kistner EO, Murtha MT, Regueiro MD, Rotter JI, Schumm LP, Steinhart AH, Targan SR, Xavier RJ, Libioulle C, Sandor C, Lathrop M, Belaiche J, Dewit O, Gut I, Heath S, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008, 40:955-962. 10.1038/ng.175, 2574810, 18587394.
20. Kaplan M. STAT4: a critical regulator of inflammation in vivo. Immunol Res 2005, 31:231-242. 10.1385/IR:31:3:231, 15888914.
21. Mathur AN, Chang HC, Zisoulis DG, Stritesky GL, Yu Q, O'Malley JT, Kapur R, Levy DE, Kansas GS, Kaplan MH. Stat3 and Stat4 direct development of IL-17-secreting Th cells. J Immunol 2007, 178:4901-4907.
22. Kariuki SN, Kirou KA, MacDermott EJ, Barillas-Arias L, Crow MK, Niewold TB. Cutting edge: autoimmune disease rsk variant of STAT4 confers increased sensitivity to IFN-α in lupus patients in vivo. J Immunol 2009, 182:34-38. 2716754, 19109131.
23. Martínez A, Varadé J, Márquez A, Cénit MC, Espino L, Perdigones N, Santiago JL, Fernández-Arquero M, de la Calle H, Arroyo R, Mendoza JL, Fernández-Gutiérrez B, de la Concha EG, Urcelay E. Association of the STAT4 gene with increased susceptibility for some immune-mediated diseases. Arthritis Rheum 2008, 58:2598-2602. 10.1002/art.23792, 18759272.
24. Naseem H, Thomson W, Silman A, Worthington J, Barton A. The PTPN22*C1858T functional polymorphism is associated with susceptibility to inflammatory polyarthritis but neither this nor other variants spanning the gene is associated with disease outcome. Ann Rheum Dis 2008, 67:251-255. 10.1136/ard.2007.071894, 17666450.
25. Kurreeman FA, Padyukov L, Marques RB, Schrodi SJ, Seddighzadeh M, Stoeken-Rijsbergen G, Helm-van Mil AH, Allaart CF, Verduyn W, Houwing-Duistermaat J, Alfredsson L, Begovich AB, Klareskog L, Huizinga TW, Toes RE. A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis. PLoS Med 2007, 4:e278. 10.1371/journal.pmed.0040278, 1976626,1976626, 17880261.
26. Panoulas VF, Smith JP, Nightingale P, Kitas GD. Association of the TRAF1/C5 locus with increased mortality, particularly from malignancy or sepsis, in patients with rheumatoid arthritis. Arthritis Rheum 2009, 60:39-46. 10.1002/art.24176, 19116907.
27. 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.