Rheumatoid arthritis risk allele PTPRC is also associated with response to anti-tumor necrosis factor α therapy

Arthritis and Rheumatism

Volumn 62, Issue 7, 2010, Pages 1849-1861

  Cui, Jing ^a   Saevarsdottir, Saedis ^b   Thomson, Brian ^c   Padyukov, Leonid ^b   Van Der Helm van Mil, Annette H M ^d   Nititham, Joanne ^e   Hughes, Laura B ^f   De Vries, Niek ^g   Raychaudhuri, Soumya ^a,c   Alfredsson, Lars ^h   Askling, Johan ^b   Wedrén, Sara ^h   Ding, Bo ^h   Guiducci, Candace ^c   Wolbink, Gert Jan ^g   Crusius, J Bart A ⁱ   Van Der Horst Bruinsma, Irene E ⁱ   Herenius, Marieke ^g   Weinblatt, Michael E ^a   Shadick, Nancy A ^a   Worthington, Jane ^j   Batliwalla, Franak ^k   Kern, Marlena ^k   Morgan, Ann W ^l   Wilson, Anthony G ^m   Isaacs, John D ⁿ   Hyrich, Kimme ^j   Seldin, Michael F ^o   Moreland, Larry W ^p   Behrens, Timothy W ^q   Allaart, Cornelia F ^d   Criswell, Lindsey A ^e   Huizinga, Tom W J ^d   Tak, Paul P ^g   Bridges Jr , S Louis ^f   Toes, Rene E M ^d   Barton, Anne ^j   Klareskog, Lars ^b   Gregersen, Peter K ^k   Karlson, Elizabeth W ^a   Plenge, Robert M ^a,c,r   more..

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

^h KAROLINSKA INSTITUTE   (Sweden)

ⁱ VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^j UNIVERSITY OF MANCHESTER   (United Kingdom)

^k FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^l UNIVERSITY OF LEEDS   (United Kingdom)

^m UNIVERSITY OF SHEFFIELD   (United Kingdom)

ⁿ NEWCASTLE UNIVERSITY   (United Kingdom)

^o UNIVERSITY OF CALIFORNIA   (United States)

^p UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^q GENENTECH INC   (United States)

^r HARVARD MEDICAL SCHOOL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADALIMUMAB; AUTOANTIBODY; ETANERCEPT; INFLIXIMAB; METHOTREXATE; NONSTEROID ANTIINFLAMMATORY AGENT; STEROID; TUMOR NECROSIS FACTOR ALPHA INHIBITOR;

ADULT; ALLELE; ARTICLE; COHORT ANALYSIS; DISEASE ACTIVITY; DRUG RESPONSE; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HUMAN; IMMUNOTHERAPY; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

ANTIBODIES, MONOCLONAL; ANTIGENS, CD45; ANTIRHEUMATIC AGENTS; ARTHRITIS, RHEUMATOID; DISABILITY EVALUATION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEALTH STATUS; HUMANS; INTERNATIONAL COOPERATION; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME; TUMOR NECROSIS FACTOR-ALPHA;

EID: 77954241353     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.27457     Document Type: Article

References (49)

1. Klareskog L, Catrina AI, Paget S. Rheumatoid arthritis. Lancet 2009;373:659-72.
2. Finckh A, Liang MH, van Herckenrode CM, de Pablo P. Long-term impact of early treatment on radiographic progression in rheumatoid arthritis: a meta-analysis. Arthritis Rheum 2006;55:864-72.
3. Maini RN, Breedveld FC, Kalden JR, Smolen JS, Davis D, Macfarlane JD, et al. Therapeutic efficacy of multiple intravenous infusions of anti-tumor necrosis factor α monoclonal antibody combined with low-dose weekly methotrexate in rheumatoid arthritis. Arthritis Rheum 1998;41:1552-63.
4. Klareskog L, van der Heijde D, de Jager JP, Gough A, Kalden J, Malaise M, et al, TEMPO (Trial of Etanercept and Methotrexate with Radiographic Patient Outcomes) study investigators. Therapeutic effect of the combination of etanercept and methotrexate compared with each treatment alone in patients with rheumatoid arthritis: double-blind randomised controlled trial. Lancet 2004;363:675-81.
5. Hyrich KL, Watson KD, Silman AJ, Symmons DP, for the British Society for Rheumatology Biologics Register. Predictors of response to anti-TNF-α therapy among patients with rheumatoid arthritis: results from the British Society for Rheumatology Biologics Register. Rheumatology (Oxford) 2006;45:1558-65.
6. Gibbons LJ, Hyrich KL. Biologic therapy for rheumatoid arthritis: clinical efficacy and predictors of response. BioDrugs 2009;23:111-24.
7. Plenge RM, Criswell LA. Genetic variants that predict response to anti-tumor necrosis factor therapy in rheumatoid arthritis: current challenges and future directions. Curr Opin Rheumatol 2008;20:145-52.
8. Wijbrandts CA, Dijkgraaf MG, Kraan MC, Vinkenoog M, Smeets TJ, Dinant H, et al. The clinical response to infliximab in rheumatoid arthritis is in part dependent on pretreatment tumour necrosis factor α expression in the synovium. Ann Rheum Dis 2008;67:1139-44.
9. Plenge RM. Recent progress in rheumatoid arthritis genetics: one step towards improved patient care. Curr Opin Rheumatol 2009;21:262-71.
10. Bowes J, Barton A. Recent advances in the genetics of RA susceptibility. Rheumatology (Oxford) 2008;47:399-402.
11. Gregersen PK, Silver J, Winchester RJ. The shared epitope hypothesis: an approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum 1987;30:1205-13.
12. Raychaudhuri S, Remmers EF, Lee AT, Hackett R, Guiducci C, Burtt NP, et al. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet 2008;40:1216-23.
13. 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.
14. 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.
15. 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.
16. Kurreeman FA, Padyukov L, Marques RB, Schrodi SJ, Seddighzadeh M, Stoeken-Rijsbergen G, et al. A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis. PLoS Med 2007;4:e278.
17. Raychaudhuri S, Thomson BP, Remmers EF, Eyre S, Hinks A, Guiducci C, et al. Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nat Genet 2009;41:1313-8.
18. Plenge RM, Padyukov L, Remmers EF, Purcell S, Lee AT, Karlson EW, 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;77:1044-60.
19. Gregersen PK, Amos CI, Lee AT, Lu Y, Remmers EF, Kastner DL, et al. REL, encoding a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. Nat Genet 2009;41:820-3.
20. Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, et al. The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 2000;26:76-80.
21. Kathiresan S, Musunuru K, Orho-Melander M. Defining the spectrum of alleles that contribute to blood lipid concentrations in humans. Curr Opin Lipidol 2008;19:122-7. (Pubitemid 351483298)
22. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS, et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988;31:315-24.
23. Liu C, Batliwalla F, Li W, Lee A, Roubenoff R, Beckman E, et al. Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. Mol Med 2008;14:575-81.
24. Wijbrandts CA, Klaasen R, Dijkgraaf MG, Gerlag DM, van Eck-Smit BL, Tak PP. Bone mineral density in rheumatoid arthritis patients 1 year after adalimumab therapy: arrest of bone loss. Ann Rheum Dis 2009;68:373-6.
25. Goekoop-Ruiterman YP, de Vries-Bouwstra JK, Allaart CF, van Zeben D, Kerstens PJ, Hazes JM, et al. Clinical and radiographic outcomes of four different treatment strategies in patients with early rheumatoid arthritis (the BeSt study): a randomized, controlled trial. Arthritis Rheum 2005;52:3381-90.
26. Potter C, Hyrich KL, Tracey A, Lunt M, Plant D, Symmons DP, et al. Association of rheumatoid factor and anti-cyclic citrullinated peptide positivity, but not carriage of shared epitope or PTPN22 susceptibility variants, with anti-tumour necrosis factor response in rheumatoid arthritis. Ann Rheum Dis 2009;68:69-74.
27. Bowes JD, Potter C, Gibbons LJ, Hyrich K, Plant D, Morgan AW, et al, for the BRAGGSS. Investigation of genetic variants within candidate genes of the TNFRSF1B signalling pathway on the response to anti-TNF agents in a UK cohort of rheumatoid arthritis patients. Pharmacogenet Genomics 2009;19:319-323.
28. Sato M, Schneeweiss S, Scranton R, Katz JN, Weinblatt ME, Avorn J, et al. The validity of a rheumatoid arthritis medical records-based index of severity compared with the DAS28. Arthritis Res Ther 2006;8:R57.
29. Askling J, Fored CM, Geborek P, Jacobsson LT, van Vollenhoven R, Feltelius N, et al. Swedish registers to examine drug safety and clinical issues in RA. Ann Rheum Dis 2006;65:707-12. (Pubitemid 43799167)
30. Bathon JM, Martin RW, Fleischmann RM, Tesser JR, Schiff MH, Keystone EC, et al. A comparison of etanercept and methotrexate in patients with early rheumatoid arthritis. N Engl J Med 2000;343:1586-93.
31. Criswell LA, Lum RF, Turner KN, Woehl B, Zhu Y, Wang J, et al. The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept. Arthritis Rheum 2004;50:2750-6. (Pubitemid 39209511)
32. Padyukov L, Lampa J, Heimburger M, Ernestam S, Cederholm T, Lundkvist I, et al. Genetic markers for the efficacy of tumour necrosis factor blocking therapy in rheumatoid arthritis. Ann Rheum Dis 2003;62:526-9. (Pubitemid 36606284)
33. Prevoo ML, van 't Hof MA, Kuper HH, van Leeuwen MA, van de Putte LB, van Riel PL. Modified disease activity scores that include twenty-eight-joint counts: development and validation in a prospective longitudinal study of patients with rheumatoid arthritis. Arthritis Rheum 1995;38:44-8.
34. Van Gestel AM, Prevoo ML, van 't Hof MA, van Rijswijk MH, van de Putte LB, van Riel PL. Development and validation of the European League Against Rheumatism response criteria for rheumatoid arthritis: comparison with the preliminary American College of Rheumatology and the World Health Organization/International League Against Rheumatism criteria. Arthritis Rheum 1996;39:34-40.
35. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004;75:330-7.
36. Suzuki A, Yamada R, Chang X, Tokuhiro S, Sawada T, Suzuki M, et al. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat Genet 2003;34:395-402.
37. 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.
38. Barton A, Thomson W, Ke X, Eyre S, Hinks A, Bowes J, et al. Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13. Nat Genet 2008;40:1156-9.
39. Suzuki A, Yamada R, Kochi Y, Sawada T, Okada Y, Matsuda K, et al. Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population. Nat Genet 2008;40:1224-9.
40. Zhernakova A, Alizadeh BZ, Bevova M, van Leeuwen MA, Coenen MJ, Franke B, et al. 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;81:1284-8.
41. Lee YC, Raychaudhuri S, Cui J, De Vivo I, Ding B, Alfredsson L, et al. The PRL-1149 G/T polymorphism and rheumatoid arthritis susceptibility. Arthritis Rheum 2009;60:1250-4.
42. Lee HS, Lee AT, Criswell LA, Seldin MF, Amos CI, Carulli JP, et al. Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locus. Mol Med 2008;14:293-300.
43. De Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J, et al. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet 2006;38:1166-72.
44. 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.
45. Marchini J, Howie B, Myers S, McVean G, Donnelly P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 2007;39:906-13. (Pubitemid 47014502)
46. Collier DS, Grant RW, Estey G, Surrao D, Chueh HC, Kay J. Physician ability to assess rheumatoid arthritis disease activity using an electronic medical record-based disease activity calculator. Arthritis Rheum 2009;61:495-500.
47. Hermiston ML, Xu Z, Weiss A. CD45: a critical regulator of signaling thresholds in immune cells. Annu Rev Immunol 2003;21:107-37. (Pubitemid 37174528)
48. Hayes AL, Smith C, Foxwell BM, Brennan FM. CD45-induced tumor necrosis factor α production in monocytes is phosphatidylinositol 3-kinase-dependent and nuclear factor-κB-independent. J Biol Chem 1999;274:33455-61. (Pubitemid 129511652)
49. Irie-Sasaki J, Sasaki T, Matsumoto W, Opavsky A, Cheng M, Welstead G, et al. CD45 is a JAK phosphatase and negatively regulates cytokine receptor signalling. Nature 2001;409:349-54.