Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis

Annals of the Rheumatic Diseases

Volumn 72, Issue 8, 2013, Pages 1375-1381

  Mirkov, Maša Umicevic ^a   Cui, Jing ^b   Vermeulen, Sita H ^a   Stahl, Eli A ^b   Toonen, Erik J M ^a   Makkinje, Remco R ^a   Lee, Annette T ^c   Huizinga, Tom W J ^d   Allaart, Renee ^d   Barton, Anne ^e,f   Mariette, Xavier ^g   Miceli, Corinne Richard ^g   Criswell, Lindsey A ^h   Tak, Paul P ^i,j   De Vries, Niek ^i,j   Saevarsdottir, Saedis ^k   Padyukov, Leonid ^k   Bridges, S Louis ^l   Van Schaardenburg, Dirk Jan ^m,n   Jansen, Tim L ^a   Dutmer, Ellen A J ^o   Van De Laar, Mart A F J ^p   Barrera, Pilar ^a   Radstake, Timothy R D J ^q   Van Riel, Piet L C M ^a   Scheffer, Hans ^a   Franke, Barbara ^a   Brunner, Han G ^a   Plenge, Robert M ^b   Gregersen, Peter K ^c   Guchelaar, Henk Jan ^d   Coenen, Marieke J H ^a   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^g UNIVERSITÉ PARIS SACLAY   (France)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ ACADEMIC MEDICAL CENTER   (Netherlands)

^j GLAXOSMITHKLINE   (United Kingdom)

^k KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^l The University of Alabama at Birmingham   (United States)

^m JAN VAN BREEMEN INSTITUTE   (Netherlands)

ⁿ VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^o GELDERSE VALLEI HOSPITAL   (Netherlands)

^p MEDISCH SPECTRUM TWENTE   (Netherlands)

^q UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADALIMUMAB; ETANERCEPT; INFLIXIMAB; METHOTREXATE;

ARTICLE; BIOLOGICAL ACTIVITY; CELL STRUCTURE; COMBINATION CHEMOTHERAPY; CONTROLLED STUDY; DISEASE ACTIVITY; DRUG RESPONSE; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC MARKER; GENOME ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; OUTCOME ASSESSMENT; PRIORITY JOURNAL; PROGNOSIS; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ANTI-TNF; GENE POLYMORPHISM; PHARMACOGENETICS; RHEUMATOID ARTHRITIS;

ANTIBODIES, MONOCLONAL; ANTIBODIES, MONOCLONAL, HUMANIZED; ANTIRHEUMATIC AGENTS; ARTHRITIS, RHEUMATOID; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; FEMALE; GENE EXPRESSION REGULATION; GENETIC MARKERS; GENOME-WIDE ASSOCIATION STUDY; HUMANS; IMMUNOGLOBULIN G; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, TUMOR NECROSIS FACTOR; REGISTRIES; TUMOR NECROSIS FACTOR-ALPHA;

EID: 84880133098     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2012-202405     Document Type: Article

References (43)

1. McInnes IB, Schett G. Cytokines in the pathogenesis of rheumatoid arthritis. Nat Rev Immunol 2007;7:429-42. (Pubitemid 46834849)
2. Tracey D, Klareskog L, Sasso EH, et al. Tumor necrosis factor antagonist mechanisms of action: a comprehensive review. Pharmacol Ther 2008;117:244-79.
3. Feldmann M, Maini SR. Role of cytokines in rheumatoid arthritis: an education in pathophysiology and therapeutics. Immunol Rev 2008;223:7-19. (Pubitemid 351986171)
4. Maini R, St Clair EW, Breedveld F, et al. Infliximab (chimeric anti-tumour necrosis factor alpha monoclonal antibody) versus placebo in rheumatoid arthritis patients receiving concomitant methotrexate: a randomised phase III trial. ATTRACT Study Group. Lancet 1999;354:1932-9.
5. Keystone EC, Kavanaugh AF, Sharp JT, et al. Radiographic, clinical, and functional outcomes of treatment with adalimumab (a human anti-tumor necrosis factor monoclonal antibody) in patients with active rheumatoid arthritis receiving concomitant methotrexate therapy: a randomized, placebo-controlled, 52-week trial. Arthritis Rheum 2004;50:1400-11. (Pubitemid 38608061)
6. Klareskog L, van der Heijde D, de Jager JP, et al. 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. (Pubitemid 38296553)
7. Maini RN, Breedveld FC, Kalden JR, et al. Therapeutic efficacy of multiple intravenous infusions of anti-tumor necrosis factor alpha monoclonal antibody combined with low-dose weekly methotrexate in rheumatoid arthritis. Arthritis Rheum 1998;41:1552-63. (Pubitemid 28459913)
8. Tak PP. A personalized medicine approach to biologic treatment of rheumatoid arthritis: a preliminary treatment algorithm. Rheumatology (Oxford) 2012;51:600-9.
9. Hyrich KL, Watson KD, Silman AJ, et al. Predictors of response to anti-TNF-alpha therapy among patients with rheumatoid arthritis: results from the British Society for Rheumatology Biologics Register. Rheumatology (Oxford) 2006;45:1558-65. (Pubitemid 44817065)
10. Atzeni F, Antivalle M, Pallavicini FB, et al. Predicting response to anti-TNF treatment in rheumatoid arthritis patients. Autoimmun Rev 2009;8:431-7.
11. Potter C, Hyrich KL, Tracey A, 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.
12. Klaasen R, Thurlings RM, Wijbrandts CA, et al. The relationship between synovial lymphocyte aggregates and the clinical response to infliximab in rheumatoid arthritis: a prospective study. Arthritis Rheum 2009;60:3217-24.
13. Coenen MJ, Toonen EJ, Scheffer H, et al. Pharmacogenetics of anti-TNF treatment in patients with rheumatoid arthritis. Pharmacogenomics 2007;8:761-73. (Pubitemid 47288976)
14. Pavy S, Toonen EJ, Miceli-Richard C, et al. Tumour necrosis factor alpha -308G->A polymorphism is not associated with response to TNFalpha blockers in Caucasian patients with rheumatoid arthritis: systematic review and meta-analysis. Ann Rheum Dis 2010;69:1022-8.
15. Lee YH, Ji JD, Bae SC, et al. Associations between tumor necrosis factor-alpha (TNF-alpha) -308 and -238 G/A polymorphisms and shared epitope status and responsiveness to TNF-alpha blockers in rheumatoid arthritis: a metaanalysis update. J Rheumatol 2010;37:740-6.
16. Cui J, Saevarsdottir S, Thomson B, et al. Rheumatoid arthritis risk allele PTPRC is also associated with response to anti-tumor necrosis factor alpha therapy. Arthritis Rheum 2010;62:1849-61.
17. Plant D, Prajapati R, Hyrich KL, et al. Replication of association of the PTPRC gene with response to anti-tumor necrosis factor therapy in a large UK cohort. Arthritis Rheum 2012;64:665-70.
18. Liu C, Batliwalla F, Li W, 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.
19. Plant D, Bowes J, Potter C, et al. Genome-wide association study of genetic predictors of anti-tumor necrosis factor treatment efficacy in rheumatoid arthritis identifies associations with polymorphisms at seven loci. Arthritis Rheum 2011;63:645-53.
20. Krintel SB, Palermo G, Johansen JS, et al. Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFalpha inhibitors in patients with rheumatoid arthritis. Pharmacogenet Genomics 2012;22:577-89.
21. Selmi C, Lleo A, Zuin M, et al. Interferon alpha and its contribution to autoimmunity. Curr Opin Investig Drugs 2006;7:451-6. (Pubitemid 43772985)
22. Suarez-Gestal M, Perez-Pampin E, Calaza M, et al. Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study. Arthritis Res Ther 2010;12:R72.
23. Kievit W, Fransen J, Adang EM, et al. Long-term effectiveness and safety of TNF-blocking agents in daily clinical practice: results from the Dutch Rheumatoid Arthritis Monitoring register. Rheumatology (Oxford) 2011;50:196-203.
24. Moreland LW, O'Dell JR, Paulus HE, et al. A randomized comparative effectiveness study of oral triple therapy versus etanercept plus methotrexate in early, aggressive rheumatoid arthritis. Arthritis Rheum 2012;64:2824-35.
25. Bombardieri S, Ruiz AA, Fardellone P, et al. Effectiveness of adalimumab for rheumatoid arthritis in patients with a history of TNF-antagonist therapy in clinical practice. Rheumatology (Oxford) 2007;46:1191-9. (Pubitemid 47053782)
26. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-75. (Pubitemid 47330214)
27. Price AL, Patterson NJ, Plenge RM, et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006;38:904-9. (Pubitemid 44141658)
28. Li Y, Willer C, Sanna S, et al. Genotype imputation. Annu Rev Genomics Hum Genet 2009;10:387-406.
29. Chen WM, Abecasis GR. Family-based association tests for genomewide association scans. Am J Hum Genet 2007;81:913-26. (Pubitemid 47580246)
30. Jupp OJ, Vandenabeele P, MacEwan DJ. Distinct regulation of cytosolic phospholipase A2 phosphorylation, translocation, proteolysis and activation by tumour necrosis factor-receptor subtypes. Biochem J 2003;374:453-61. (Pubitemid 37094104)
31. Ogawa J, Kaneko H, Masuda T, et al. Novel neural adhesion molecules in the Contactin/F3 subgroup of the immunoglobulin superfamily: isolation and characterization of cDNAs from rat brain. Neurosci Lett 1996;218:173-6. (Pubitemid 26388843)
32. Peraldi P, Hotamisligil GS, Buurman WA, et al. Tumor necrosis factor (TNF)-alpha inhibits insulin signaling through stimulation of the p55 TNF receptor and activation of sphingomyelinase. J Biol Chem 1996;271:13018-22.
33. Huvers FC, Popa C, Netea MG, et al. Improved insulin sensitivity by anti-TNFalpha antibody treatment in patients with rheumatic diseases. Ann Rheum Dis 2007;66:558-9. (Pubitemid 46580485)
34. Tam LS, Tomlinson B, Chu TT, et al. Impact of TNF inhibition on insulin resistance and lipids levels in patients with rheumatoid arthritis. Clin Rheumatol 2007;26:1495-8. (Pubitemid 47201685)
35. Nagar M, Jacob-Hirsch J, Vernitsky H, et al. TNF activates a NF-kappaB-regulated cellular program in human CD45RA- regulatory T cells that modulates their suppressive function. J Immunol 2010;184:3570-81.
36. Svenson M, Geborek P, Saxne T, et al. Monitoring patients treated with anti-TNF-alpha biopharmaceuticals: assessing serum infliximab and anti-infliximab antibodies. Rheumatology (Oxford) 2007;46:1828-34. (Pubitemid 350168300)
37. Yin J, Wan YJ, Li SY, et al. The distinct role of guanine nucleotide exchange factor Vav1 in Bcl-2 transcription and apoptosis inhibition in Jurkat leukemia T cells. Acta Pharmacol Sin 2011;32:99-107.
38. Coury F, Ferraro-Peyret C, Le Cam S, et al. Peripheral blood lymphocytes from patients with rheumatoid arthritis are differentially sensitive to apoptosis induced by anti-tumour necrosis factor-alpha therapy. Clin Exp Rheumatol 2008;26:234-9. (Pubitemid 351659129)
39. Baum L, Ng HK, Wong KS, et al. Associations of apolipoprotein E exon 4 and lipoprotein lipase S447X polymorphisms with acute ischemic stroke and myocardial infarction. Clin Chem Lab Med 2006;44:274-81. (Pubitemid 43357684)
40. Okada Y, Terao C, Ikari K, et al. Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. Nat Genet 2012;44:511-6.
41. Stahl EA, Raychaudhuri S, Remmers EF, et al. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet 2010;42:508-14.
42. Lango Allen H, Estrada K, Lettre G, et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010;467:832-8.
43. Chasman DI, Pare G, Zee RY, et al. Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Circ Cardiovasc Genet 2008;1:21-30.