An update on pharmacogenomics in rheumatoid arthritis with a focus on TNF-blocking agents

Current Opinion in Molecular Therapeutics

Volumn 10, Issue 6, 2008, Pages 562-567

  Ranganathan, P ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Fc RIIIA; Pharmacogenetics; Pharmacogenomics; Rheumatoid arthritis; Single nucleotide polymorphism; TNF antagonists; TNF

Indexed keywords

ADALIMUMAB; CD16 ANTIGEN; ETANERCEPT; FC GAMMA RECEPTOR 3A; INFLIXIMAB; TUMOR NECROSIS FACTOR ALPHA; TUMOR NECROSIS FACTOR ANTIBODY; UNCLASSIFIED DRUG;

DISEASE COURSE; DRUG COST; DRUG EFFICACY; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; MAJOR HISTOCOMPATIBILITY COMPLEX; PATIENT IDENTIFICATION; PHARMACOGENETICS; PHARMACOGENOMICS; REVIEW; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE; TUMOR NECROSIS FACTOR 308;

ANTIRHEUMATIC AGENTS; ARTHRITIS, RHEUMATOID; GENOME, HUMAN; HUMANS; PHARMACOGENETICS; POLYMORPHISM, GENETIC; TUMOR NECROSIS FACTOR-ALPHA;

EID: 57349123715     PISSN: 14648431     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (46)

1. Bathon JM, Martin RW, Fleischmann RM, Tesser JR, Schiff MH, Keystone EC, Genovese MC, Wasko MC, Moreland LW, Weaver AL, Markenson J, Finck BK: A comparison of etanercept and methotrexate in patients with early rheumatoid arthritis. N Engl J Med (2000) 343(22):1586-1593. • A seminal paper establishing the effectiveness of the three TNF antagonists in RA.
2. Lipsky PE, van der Heijde DM, St Clair EW, Furst DE, Breedveld FC, Kalden JR, Smolen JS, Weisman M, Emery P, Feldmann M, Harriman GR, Maini RN: Infliximab and methotrexate in the treatment of rheumatoid arthritis. Antitumor necrosis factor trial in rheumatoid arthritis with concomitant therapy study group. N Engl J Med (2000) 343(22):1594-1602. • A seminal paper establishing the effectiveness of the three TNF antagonists in RA.
3. Keystone EC, Kavanaugh AF, Sharp JT, Tannenbaum H, Hua Y, Teoh LS, Fischkoff SA, Chartash EK: Radiographic, clinical, and functional outcomes of treatment with adalimumab (a human antitumor 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(5):1400-1411. • A seminal paper establishing the effectiveness of the three TNF antagonists in RA.
4. Wong JB: Cost-effectiveness of antitumor necrosis factor agents. Clin Exp Rheumatol (2004) 22(5 Suppl 35):S65-S70.
5. Hyrich KL, Watson KD, Silman AJ, Symonds DP, British Society for Rheumatology Biologics Register: Predictors of response to anti-TNFα therapy among patients with rheumatoid arthritis: Results from the British Society for Rheumatology Biologics Register. Rheumatology (Oxford) (2006) 45(12):1558-1565.
6. Kuiper S, Joosten LA, Bendele AM, Edwards CK 3rd, Arntz OJ, Helsen MM, Van de Loo FA, Van den Berg WB: Different roles of tumor necrosis factor α and interleukin 1 in murine streptococcal cell wall arthritis. Cytokine (1998) 10(9):690-702.
7. Dinarello CA, Wolff SM: The role of interleukin-1 in disease. N Engl J Med (1993) 328(2):106-113.
8. Bertolini DR, Nedwin GE, Bringman TS, Smith DD, Mundy GR: Stimulation of bone resorption and inhibition of bone formation in vitro by human tumor necrosis factors. Nature (1986) 319(6053):516-518.
9. Saklatvala J: Tumor necrosis factor α stimulates resorption and inhibits synthesis of proteoglycan in cartilage. Nature (1986) 322(6079):547-549.
10. Scallon BJ, Moore MA, Trinh H, Knight DM, Ghrayeb J: Chimeric anti-TNFα monoclonal antibody cA2 binds recombinant transmembrane TNFα and activates immune effector functions. Cytokine (1995) 7(3):251-259.
11. Van den Brande JM, Braat H, van den Brink GR, Versteeg HH, Bauer CA, Hoedemaeker I, van Montfrans C, Hommes DW, Peppelenbosch MP, van Deventer SJ: Infliximab but not etanercept induces apoptosis in lamina propria T-lymphocytes from patients with Crohn's disease. Gastroenterology (2003) 124(7):1774-1785.
12. Gudbrandsdottir S, Larsen R, Sorensen LK, Nielsen S, Hansen MB, Svenson M, Bendtzen K, Müller K: TNF- and LT-binding capacities in the plasma of arthritis patients: Effect of etanercept treatment in juvenile idiopathic arthritis. Clin Exp Rheumatol (2004) 22(1):118-124.
13. Buch MH, Conaghan PG, Quinn MA, Bingham SJ, Veale D, Emery P: True infliximab resistance in rheumatoid arthritis: A role for lymphotoxin α? Ann Rheum Dis (2004) 63(10):1344-1346.
14. van Vollenhoven R, Harju A, Brannemark S, Klareskog L: Treatment with infliximab (Remicade) when etanercept (Enbrel) has failed or vice versa: Data from the STURE registry showing that switching tumor necrosis factor α blockers can make sense. Ann Rheum Dis (2003) 62(12):1195-1198.
15. Calabrese LH: Molecular differences in anti-cytokine therapies. Clin Exp Rheumatol (2003) 21(2):241-248.
16. Catrina AI, Trollmo C, af Klint E, Engstrom M, Lampa J, Hermansson Y, Klareskog L, Ulfgren AK: Evidence that antitumor necrosis factor therapy with both etanercept and infliximab induces apoptosis in macrophages, but not lymphocytes, in rheumatoid arthritis joints: Extended report. Arthritis Rheum (2005) 52(1):61-72.
17. Bazzoni F, Beutler B: The tumor necrosis factor ligand and receptor families. New Engl J Med (1996) 334(26):1717-1725.
18. Grell M, Douni E, Wajant H, Lohden M, Clauss M, Maxeiner B, Georgopoulos S, Lesslauer W, Kollias G, Pfizenmaier K, Scheurich P: The transmembrane form of tumor necrosis factor is the prime activating ligand of the 80-kDa tumor necrosis factor receptor. Cell (1995) 83(5):793-802.
19. 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(11):1205-1213. • A landmark paper demonstrating the contribution of the SE alleles in susceptibility to RA.
20. Bayley JP, Ottenhoff TH, Verweij CL: Is there a future for TNF promoter polymorphisms? Genes Immun (2004) 5(5):315-329.
21. Louis E, Franchimont D, Piron A, Gevaert Y, Schaaf-Lafontaine N, Roland S, Mahieu P, Malaise M, De Groote D, Louis R, Belaiche J: Tumor necrosis factor (TNF) gene polymorphism influences TNF-α production in lipopolysaccharide (LPS)-stimulated whole blood cell culture in healthy humans. Clin Exp Immunol (1998) 113(3):401-406.
22. Tang GJ, Huang SL, Yien HW, Chen WS, Chi CW, Wu CW, Lui WY, Chiu JH, Lee TY: Tumor necrosis factor gene polymorphism and septic shock in surgical infection. Crit Care Med (2000) 28(8):2733-2736.
23. Bouma G, Crusius JB, Oudkerk Pool M, Kolkman JJ, von Blomberg BM, Kostense PJ, Giphart MJ, Schreuder GM, Meuwissen SG, Pena AS: Secretion of tumor necrosis factor α and lymphotoxin α in relation to polymorphisms in the TNF genes and HLA-DR alleles. Relevance for inflammatory bowel disease. Scand J Immunol (1996) 43(4):456-463.
24. Allen RD: Polymorphism of the human TNF-α promoter - random variation or functional diversity? Mol Immunol (1999) 36(15-16):1017-1027.
25. Knight JC, Keating BJ, Rockett KA, Kwiatkowski DP: In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading. Nat Genet (2003) 33(4):469-475.
26. Huizinga TW, Westendorp RG, Bollen EL, Keijsers V, Brinkman BM, Langermans JA, Breedveld FC, Verweij CL, van de Gaer L, Dams L, Crusius JB et al: TNF-α promoter polymorphisms, production and susceptibility to multiple sclerosis in different groups of patients. J Neuroimmunol (1997) 72(2):149-153.
27. Fabris M, Di PE, D'Elia A, Damante G, Sinigaglia L, Ferraccioli G: Tumor necrosis factor-α gene polymorphism in severe and mild-moderate rheumatoid arthritis. J Rheumatol (2002) 29(1):29-33.
28. Udalova IA, Nedospasov SA, Webb GC, Chaplin DD, Turetskaya RL: Highly informative typing of the human TNF locus using six adjacent polymorphic markers. Genomics (1993) 16(1):180-186.
29. Wu J, Edberg JC, Redecha PB, Bansal V, Guyre PM, Coleman K, Salmon JE, Kimberly RP: A novel polymorphism of FcγRIIIa (CD16) alters receptor function and predisposes to autoimmune disease. J Clin Invest (1997) 100(5):1059-1070.
30. Kastbom A, Ahmadi A, Soderkvist P, Skogh T: The 158V polymorphism of Fcγ receptor type IIIA in early rheumatoid arthritis: Increased susceptibility and severity in male patients (the Swedish TIRA project). Rheumatology (2005) 44(10):1294-1298.
31. Morgan AW, Keyte VH, Babbage SJ, Robinson JI, Ponchel F, Barrett JH, Bhakta BB, Bingham SJ, Buch MH, Conaghan PG, Gough A et al: FcγRIIIA-158V and rheumatoid arthritis: A confirmation study. Rheumatology (2003) 42(4):528-533.
32. Radstake TR, Petit E, Pierlot C, van de Putte LB, Cornelis F, Barrera P: Role of Fcγ receptors IIA, IIIA, and IIIB in susceptibility to rheumatoid arthritis. J Rheumatol (2003) 30(5):926-933.
33. Milicic A, Misra R, Agrawal S, Aggarwal A, Brown MA, Wordsworth BP: The F158V polymorphism in FcγRIIIA shows disparate associations with rheumatoid arthritis in two genetically distinct populations. Ann Rheum Dis (2002) 61(11):1021-1023.
34. Louis E, El Ghoul Z, Vermeire S, Dall'Ozzo S, Rutgeerts P, Paintaud G, Belaiche J, De Vos M, Van Gossum A, Colombel JF, Watier H: Association between polymorphism in IgG Fc receptor IIIa coding gene and biological response to infliximab in Crohn's disease. Aliment Pharmacol Ther (2004) 19(5):511-519.
35. Khanna D, Wu H, Park G, Gersuk V, Gold RH, Nepom GT, Wong WK, Sharp JT, Reed EF, Paulus HE, Tsao BP: Association of tumor necrosis factor α polymorphism, but not the shared epitope, with increased radiographic progression in a seropositive rheumatoid arthritis inception cohort. Arthritis Rheum (2006) 54(4):1105-1116.
36. Cuchacovich M, Soto L, Edwardes M, Gutierrez M, Llanos C, Pacheco D, Sabugo F, Alamo M, Fuentealba C, Villanueva L, Gatica H et al: Tumor necrosis factor (TNF)α -308 G/G promoter polymorphism and TNFα levels correlate with a better response to adalimumab in patients with rheumatoid arthritis. Scand J Rheumatol (2006) 35(6):435-440.
37. Barrera P, Joosten LA, den Broeder AA, van de Putte LB, van Riel PL, van den Berg WB: Effects of treatment with a fully human antitumor necrosis factor α monoclonal antibody on the local and systemic homeostasis of interleukin 1 and TNFα in patients with rheumatoid arthritis. Ann Rheum Dis (2001) 60(7):660-669.
38. Seitz M, Wirthmuller U, Moller B, Villiger PM: The -308 tumor necrosis factor-α gene polymorphism predicts therapeutic response to TNFα-blockers in rheumatoid arthritis and spondyloarthritis patients. Rheumatology (2007) 46(1):93-96.
39. Kastbom A, Bratt J, Ernestam S, Lampa J, Padyukov L, Soderkvist P, Skogh T: Fcγ receptor type IIIA genotype and response to tumor necrosis factor α-blocking agents in patients with rheumatoid arthritis. Arthritis Rheum (2007) 56(2):448-452.
40. Mugnier B, Balandraud N, Darque A, Roudier C, Roudier J, Reviron D: Polymorphism at position -308 of the tumor necrosis factor α gene influences outcome of infliximab therapy in rheumatoid arthritis. Arthritis Rheum (2003) 48(7):1849-1852.
41. Padyukov L, Lampa J, Heimburger M, Ernestam S, Cederholm T, Lundkvist I, Andersson P, Hermansson Y, Harju A, Klareskog L, Bratt J: Genetic markers for the efficacy of tumor necrosis factor blocking therapy in rheumatoid arthritis. Ann Rheum Dis (2003) 62(6):526-529.
42. Martinez A, Salido M, Bonilla G, Pascual-Salcedo D, Fernandez-Arquero M, de Miguel S, Balsa A, de la Concha EG, Fernandez-Gutierrez B: Association of the major histocompatibility complex with response to infliximab therapy in rheumatoid arthritis patients. Arthritis Rheum (2004) 50(4):1077-1082. • An interesting paper examining the impact of TNF microsatellites and polymorphisms in the MHC alleles on response to infliximab in RA.
43. Cuchacovich M, Ferreira L, Aliste M, Soto L, Cuenca J, Cruzat A, Gatica H, Schiattino I, Perez C, Aguirre A, Salazar-Onfray F, Aguillon JC: Tumor necrosis factor-α (TNFα) levels and influence of -308 TNFα promoter polymorphism on the responsiveness to infliximab in patients with rheumatoid arthritis. Scand J Rheumatol (2004) 33(4):228-232.
44. Criswell LA, Lum RF, Turner KN, Woehl B, Zhu Y, Wang J, Tiwari HK, Edberg JC, Kimberly RP, Moreland LW, Seldin MF, Bridges SL Jr: 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(9):2750-2756. • A comprehensive array of polymorphisms in the TNF, LTA, TNF receptor, SE and Fc receptor genes, as well as TNF microsatellites, are examined in this study for their effects on response to etanercept in RA.
45. Tutuncu Z, Kavanaugh A, Zvaifler N, Corr M, Deutsch R, Boyle D: Fcγ receptor type IIIA polymorphisms influence treatment outcomes in patients with inflammatory arthritis treated with tumor necrosis factor α-blocking agents. Arthritis Rheum (2005) 52(9):2693- 2696.
46. Spector TD, Ahmadi KR, Valdes AM: When is a replication not a replication? Or how to spot a good genetic association study. Arthritis Rheum (2006) 54(4):1051-1054. • A detailed look at the pitfalls of genetic association studies.