How genetic variation affects patient response and outcome to therapy for psoriasis

Expert Review of Clinical Immunology

Volumn 6, Issue 6, 2010, Pages 957-966

  Woolf, Richard T ^a   Smith, Catherine H ^a  

^a GUY S HOSPITAL   (United Kingdom)

Author keywords

biologics; methotrexate; pharmacogenetics; pharmacogenomics; psoriasis

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ABC TRANSPORTER; ADENOSINE DEAMINASE; ADENOSINE RECEPTOR; AMINOIMIDAZOLE 4 CARBOXAMIDE RIBONUCLEOTIDE TRANSFORMYLASE; AZATHIOPRINE; CALCIPOTRIOL; COAL TAR; CORTICOSTEROID; CYCLOSPORIN; DITHRANOL; ENZYME; ETRETIN; FOLIC ACID; FOLYPOLYGLUTAMATE SYNTHASE; FUMARIC ACID DERIVATIVE; GAMMA GLUTAMYL HYDROLASE; INTERLEUKIN 12 ANTIBODY; INTERLEUKIN 23 ANTIBODY; METHOTREXATE; MYELOPEROXIDASE; REDUCED FOLATE CARRIER; RETINOID; SYNTHETASE; THIOPURINE METHYLTRANSFERASE; THYMIDILATE SYNTHASE; TUMOR NECROSIS FACTOR ANTIBODY; UNCLASSIFIED DRUG; UNINDEXED DRUG; VITAMIN D DERIVATIVE; VITAMIN D RECEPTOR;

ANOREXIA; BONE MARROW SUPPRESSION; BONE MARROW TOXICITY; CLINICAL PRACTICE; DISEASE SEVERITY; DRUG DOSE TITRATION; DRUG EFFICACY; DRUG METABOLISM; DRUG RESPONSE; DRUG TARGETING; DRUG TRANSPORT; DRUG WITHDRAWAL; ENZYME ACTIVITY; FATIGUE; GENETIC MARKER; GENETIC VARIABILITY; HUMAN; INTERSTITIAL PNEUMONIA; LIVER TOXICITY; LUNG FIBROSIS; NAUSEA; PHARMACOGENETICS; PSORIASIS; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; STOMATITIS; THERAPY; TREATMENT OUTCOME;

BIOMARKERS, PHARMACOLOGICAL; CLINICAL TRIALS AS TOPIC; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HUMANS; INDIVIDUALIZED MEDICINE; METHOTREXATE; PHARMACOGENETICS; POLYMORPHISM, GENETIC; PSORIASIS; RECEPTORS, CALCITRIOL; VITAMIN D;

EID: 78049416803     PISSN: 1744666X     EISSN: None     Source Type: Journal    
DOI: 10.1586/eci.10.74     Document Type: Review

References (83)

1. Smith CH, Barker JN. Psoriasis and its management. Br. Med. J. 333, 380-384 (2006).
2. Zachariae H. Prevalence of joint disease in patients with psoriasis: implications for therapy. Am. J. Clin. Dermatol. 4(7), 441-447 (2003).
3. Mehta NN, Azfar, Shin DB et al. Patients with severe psoriasis are at increased risk of cardiovascular mortality: cohort study using General Practice Research Database. Eur. Heart J. 31, 1000-1006 (2010).
4. Horn EJ, Fox KM, Patel V, Chiou CF, Dann F, Lebwohl. Association of patient-reported psoriasis severity with income and employment. J. Am. Acad. Dermatol. 57, 963-971 (2007).
5. Gelfand JM, Feldman SR, Stern RS, Thomas J, Rolstad T, Margolis DJ. Determinants of quality of life in patients with psoriasis: a study from the US population. J. Am. Acad. Dermatol. 51, 704-708 (2004).
6. Nestle FO, Kaplan DH, Barker J. Psoriasis. N. Engl. J. Med. 361, 496-509 (2009).
7. Capon F, Bijlmakers MJ, Wolf N et al. Identifcation of ZNF313/RNF114 as a novel psoriasis susceptibility gene. Hum. Mol. Genet. 17, 1938-1945 (2008).
8. Cargill M, Schrodi SJ, Chang M et al. A large-scale genetic association study confrms IL12B and leads to the identifcation of IL23R as psoriasis-risk genes. Am. J. Hum. Genet. 80, 273-290 (2007).
9. Elder JT, Bruce AT, Gudjonsson JE et al. Molecular dissection of psoriasis: integrating genetics and biology. J. Invest. Dermatol. 130, 1213-1226 (2010).
10. Liu Y, Helms C, Liao W et al. A genome-wide association study of psoriasis and psoriatic arthritis identifes new disease loci. PLoS Genet. 4(3), e1000041 (2008).
11. Zhang XJ, Huang W, Yang S et al. Psoriasis genome-wide association study identifes susceptibility variants within LCE gene cluster at 1q21. Nat Genet. 41, 205-210 (2009).
12. Mak RK, Hundhausen C, Nestle FO. Progress in understanding the immunopathogenesis of psoriasis. Acta Dermosifliogr. 100(Suppl. 2), 2-13 (2009).
13. Lowes MA, Bowcock AM, Krueger JG. Pathogenesis and therapy of psoriasis. Nature 445, 866-873 (2007).
14. Griffths CE, Barker JN. Pathogenesis and clinical features of psoriasis. Lancet 370, 263-271 (2007).
15. Menter A, Korman NJ, Elmets CA et al. Guidelines of care for the management of psoriasis and psoriatic arthritis: section 3. Guidelines of care for the management and treatment of psoriasis with topical therapies. J. Am. Acad. Dermatol. 60, 643-659 (2009).
16. Menter A, Korman NJ, Elmets SR et al. Guidelines of care for the management of psoriasis and psoriatic arthritis: section 4. Guidelines of care for the management and treatment of psoriasis with traditional systemic agents. J. Am. Acad. Dermatol. 61, 451-485 (2009).
17. Smith CH, Anstey AV, Barker JN et al. British Association of Dermatologists' guidelines for biologic interventions for psoriasis 2009. Br. J. Dermatol. 161, 987-1019 (2009).
18. Dubertret L, Mrowietz U, Ranki A et al. European patient perspectives on the impact of psoriasis: the EUROPSO patient membership survey Br. J. Dermatol. 155, 729-736 (2006).
19. Nijsten T, Margolis D, Feldman SR et al. Traditional systemic treatments have not fully met the needs of psoriasis patients: results from a national survey. J. Am. Acad. Dermatol. 52, 434-444 (2005).
20. Pincelli C, Pignatti M, Borroni RG. Pharmacogenomics in dermatology: from susceptibility genes to personalized therapy Exp. Dermatol. 18, 337-349 (2009).
21. Saurat JH, Stingl G, Dubertret L et al. Effcacy and safety results from the randomized controlled comparative study of adalimumab vs. methotrexate vs. placebo in patients with psoriasis (CHAMPION). Br. J. Dermatol. 158, 556-566 (2008).
22. Heydandael VM, Spuls PI, Opmeer BC et al. Methotrexate versus cyclosporine in moderate-to-severe chronic plaque psoriasis. N. Engl. J. Med. 349, 658-665 (2003).
23. Schmitt J, Zhang Z, Wozel G et al. Effcacy and tolerability of biologic and nonbiologic systemic treatments for moderate-to-severe psoriasis: meta-analysis of randomized controlled trials. Br. J. Dermatol. 159, 513-526 (2008).
24. Eichelbaum M, Ingelman-Sundberg M, Evan WE. Pharmacogenomics and individualised drug therapy. Annu. Rev. Med. 57, 119-137 (2006).
25. Weinshilboum R. Inheritance and drug response. N. Engl. J. Med. 348, 529-537 (2003).
26. Daly AK. Genome-wide association studies in pharmacogenomics. Nat. Rev. Genet. 11, 241-246 (2010).
27. [No authors listed]. TPMT testing before azathioprine therapy? Drug Ther. Bull. 47(1), 9-12 (2009).
28. Holme SA, Duley JA, Sanderson J, Routledge PA, Anstey AV. Erythrocyte thiopurine methyl transferase assessment prior to azathioprine use in the UK. Q. J. Med. 25, 439-444 (2002).
29. Patel AA, Swerlick RA, McCall CO. Azathioprine in dermatology: the past, the present, and the future. J. Am. Acad. Dermatol. 55, 369-389 (2006).
30. Anstey AV, Wakelin S, Reynolds NJ; British Association of Dermatologists Therapy, Guidelines and Audit Subcommittee. Guidelines for prescribing azathioprine in dermatology Br. J. Dermatol. 151, 1123-1132 (2004).
31. Fargher EA, Tricker K, Newman W et al. Current use of pharmacogenetic testing: a national survey of thiopurine methyltransferase testing prior to azathioprine prescription. J. Clin. Pharm. Ther. 32, 187-195 (2007).
32. Dubertret L, Wallach D, Souteyrand P et al. Effcacy and safety of calcipotriol (MC 903) ointment in psoriasis vulgaris. A randomized, double-blind, right/left comparative, vehicle-controlled study J. Am. Acad. Dermatol. 27, 983-988 (1992).
33. Highton A, Quell J. Calcipotriene ointment 0.005% for psoriasis: a safety and effcacy study. Calcipotriene Study Group. J. Am. Acad. Dermatol. 32, 67-72 (1995).
34. Halsall JA, Osborne JE, Pringle JH, Hutchinson PE. Vitamin D receptor gene polymorphisms, particularly the novel A-1012G promoter polymorphism, are associated with vitamin D3 responsiveness and non-familial susceptibility in psoriasis. Pharmacogenet. Genomics 15, 349-355 (2005).
35. Holick MF, Chen ML, Kong XF, Sanan DK. Clinical uses for calcitropic hormones 1,25-dihydroxyvitamin D3 and parathyroid hormone-related peptide in dermatology: a new perspective. J. Invest. Dermatol. Symp. Proc. 1, 1-9 (1996).
36. Kontula K, Valimaki S, Kainulainen K, Viitanen AM, Keski-Oja J. Vitamin D receptor polymorphism and treatment of psoriasis with calcipotriol. Br. J. Dermatol. 136, 977-978 (1997).
37. Lee DY, Park PS, Choi KH et al. Vitamin D receptor genotypes are not associated with clinical response to calcipotriol in Korean psoriasis patients. Arch. Dermatol. Res. 294, 1-5 (2002).
38. Mee JB, Cork MJ. Vitamin D receptor polymorphism and calcipotriol response in patients with psoriasis. J. Invest. Dermatol. 110, 301-302 (1998).
39. Saeki H, Asano N, Tsunemi Y et al. Polymorphisms of vitamin D receptor gene in Japanese patients with psoriasis vulagaris. J. Dermatol. Sci. 30, 167-171 (2002).
40. Roelofzen JH, Aben KK, Oldenhof UT et al. No increased risk of cancer after coal tar treatment in patients with psoriasis or eczema. J. Invest. Dermatol. 130(4), 953-961 (2010).
41. Rojas M, Godschalk R, Alexandrov K et al. Myeloperoxidase-463A variant reduces benzo[a]pyrene diol epoxide DNA adducts in skin of coal tar treated patients Carcinogenesis 22(7), 1015-1018 (2001).
42. Roelofzen JH, Aben KK, van der Valk PG, van Houtum JL, van de Kerkhof PC, Kiemeney LA. Coal tar in dermatology J. Dermatolog Treat 18(6), 329-334 (2007).
43. Campalani E, Arenas M, Marinaki AM, Lewis CM, Barker JN, Smith CH. Polymorphisms in folate, pyrimidine, and purine metabolism are associated with effcacy and toxicity of methotrexate in psoriasis. J. Invest. Dermatol. 127, 1860-1867 (2007).
44. Warren RB, Smith RL, Campalani E et al. Genetic variation in effux transporters infuences outcome to methotrexate therapy in patients with psoriasis. J. Invest. Dermatol. 128, 1925-1929 (2008).
45. Warren RB, Smith RL, Campalani E et al. Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms. Br. J. Dermatol. 160, 438-441 (2009).
46. Wessels JA, van der Kooij SM, le Cessie S et al. A clinical pharmacogenetic model to predict the effcacy of methotrexate monotherapy in recent-onset rheumatoid arthritis. Arthritis Rheum. 56(6), 1765-1775 (2007).
47. Schmiegelow K. Advances in individual prediction of methotrexate toxicity: a review. Br. J. Haematol. 146(5), 489-503 (2009).
48. Scionti I, Michelacci F, Pasello M et al. Clinical impact of the methotrexate resistance-associated genes C-MYC and dihydrofolate reductase (DHFR) in high-grade osteosarcoma. Ann. Oncol. 19(8), 1500-1508 (2008).
49. Dervieux T, Furst D, Lein DO et al. Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis. Arthritis Rheum. 50(9), 2766-2774 (2004).
50. Press RR, de Fijter JW, Guchelaar HJ. Individualizing calcineurin inhibitor therapy in renal transplantation-current limitations and perspectives. Curr. Pharm. Des. 16, 176-186 (2010).
51. Staatz CE, Goodman LK, Tett SE. Effect of CYP3A and ABCB1 single nucleotide polymorphisms on the pharmacokinetics and pharmacodynamics of calcineurin inhibitors: part I. Clin. Pharmacokinet. 49, 141-175 (2010).
52. Hesselink DA, van Schaik RH, van der Heiden IP et al. Genetic polymorphisms of the CYP3A4, CYP3A5, and MDR-1 genes and pharmacokinetics of the calcineurin inhibitors cyclosporine and tacrolimus. Clin. Pharmacol. Ther. 74(3), 245-254 (2003).
53. Ormerod AD, Campalani E, Goodfeld MJ; BAD Clinical Standards Unit. British Association of Dermatologists guidelines on the effcacy and use of acitretin in dermatology Br. J. Dermatol. 162(5), 952-963 (2010).
54. Montrone M, Martorelli D, Rosato A, Dolcetti R. Retinoids as critical modulators of immune functions: new therapeutic perspectives for old compounds. Endocr. Metab. Immune Disord. Drug Targets 9(2), 113-131 (2009).
55. Young HS, Summers AM, Read IR et al. Interaction between genetic control of vascular endothelial growth factor production and retinoid responsiveness in psoriasis. J. Invest. Dermatol. 126, 453-459 (2006).
56. Detmar M, Brown LF, Claffey KP et al. Overexpression of vascular permeability factor/vascular endothelial growth factor and its receptors in psoriasis. J. Exp. Med. 180, 1141-1146 (1994).
57. Campalani E, Allen MH, Fairhurst D et al. Apolipoprotein E gene polymorphisms are associated with psoriasis but do not determine disease response to acitretin. Br. J. Dermatol. 154, 345-352 (2006).
58. Coto-Segura P, Coto E, Alvarez V et al. Apolipoprotein epsilon4 allele is associated with psoriasis severity. Arch. Dermatol. Res. 302(2), 145-149 (2010).
59. Zhang Z, Schmitt J, Wozel G, Kirch W Treatment of plaque psoriasis with biologics. A meta-analysis of randomized controlled trials. Med. Klin. (Munich) 104, 125-136 (2009).
60. Kornbluth A, Sachar DB; Practice Parameters Committee of the American College of Gastroenterology. Ulcerative colitis practice guidelines in adults: American College Of Gastroenterology, Practice Parameters Committee. Am. J. Gastroenterol. 105(3), 501-523 (2010).
61. Lichtenstein GR, Hanauer SB, Sandborn WJ; Practice Parameters Committee of American College of Gastroenterology Management of Crohn's disease in adults. Am. J. Gastroenterol. 104(2), 465-483 (2009).
62. Louis E, Franchimont D, Piron A et al. Tumour necrosis factor (TNF) gene polymorphism infuences TNF-α production in lipopolysaccharide (LPS)-stimulated whole blood cell culture in healthy humans. Clin. Exp. Immunol. 113, 401-406 (1998).
63. Li C, Wang G, Gao Y et al. TNF-α gene promoter-238G>A and-308G>A polymorphisms alter risk of psoriasis vulgaris: a meta-analysis. J. Invest. Dermatol. 127, 1886-1892 (2007).
64. Nemec P, Pavkova-Goldbergova M, Stouracova M et al. Polymorphism in the tumor necrosis factor-α gene promoter is associated with severity of rheumatoid arthritis in the Czech population. Clin. Rheumatol. 27, 59-65 (2008).
65. Bansard C, Lequerré T, Daveau M et al. Can rheumatoid arthritis responsiveness to methotrexate and biologics be predicted? Rheumatology 48, 1021-1028 (2009).
66. O'Rielly DD, Roslin NM, Beyene J, Pope A, Rahman P. TNF-(X-308 G/A polymorphism and responsiveness to TNF-α blockade therapy in moderate to severe rheumatoid arthritis: a systematic review and meta-analysis. Pharmacogenomics J. 9, 161-167 (2009).
67. Cui J, Saevarsdottir S, Thomson B et al. Rheumatoid arthritis risk allele PTPRC is also associated with response to anti-tumor necrosis factor α therapy. Arthritis Rheum. 62, 1849-1861 (2010).
68. Tan RJ, Gibbons LJ, Potter C et al. Investigation of rheumatoid arthritis susceptibility genes identifes association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment. Ann. Rheum. Dis. 69, 1029-1035 (2010).
69. Tutuncu Z, Kavanaugh A, Zvaifer N et al. Fcγ receptor type IIIA polymorphisms infuence treatment outcomes in patients with infammatory arthritis treated with tumor necrosis factor α-blocking agents. Arthritis Rheum. 52, 2693-2696 (2005).
70. Potter C, Cordell HJ, Barton A et al. Association between anti-tumour necrosis factor treatment response and genetic variants within the TLR and NFκB signalling pathways. Ann. Rheum. Dis. 69, 1315-1320 (2010).
71. Kooloos WM, Wessels JA, van der Straaten T, Huizinga TW, Guchelaar HJ. Criteria for the selection of single nucleotide polymorphisms in pathway pharmacogenetics: TNF inhibitors as a case study. Drug Discov. Today 14(17-18), 837-844 (2009).
72. Feng BJ, Sun LD, Soltan-Arabshahi R et al. Multiple loci within the major histocompatibility complex confer risk of psoriasis. PLoS Genet. 5, e1000606 (2009).
73. Nair RP, Duffn KC, Helms C et al. Genome-wide scan reveals association of psoriasis with IL-23 and NF-κB pathways. Nat Genet 41, 199-204 (2009).
74. Koczan D, Drynda S, Hecker M et al. Molecular discrimination of responders and nonresponders to anti-TNF α therapy in rheumatoid arthritis by etanercept. Arthritis Res. Ther. 10(3), R50 (2008).
75. Zaba LC, Suárez-Fariñas M, Fuentes-Duculan J et al. Effective treatment of psoriasis with etanercept is linked to suppression of IL-17 signaling, not immediate response TNF genes. J. Allergy Clin. Immunol. 124(5), 1022-1030 (2009).
76. Kimball AB, Gordon KB, Langley RG et al. Safety and effcacy of ABT-874, a fully human interleukin 12/23 monoclonal antibody, in the treatment of moderate to severe chronic plaque psoriasis: results of a randomized, placebo-controlled, Phase 2 trial. Arch. Dermatol. 144, 200-207 (2008).
77. Leonardi CL, Kimball AB, Papp KA et al. Effcacy and safety of ustekinumab, a human interleukin-12/23 monoclonal antibody, in patients with psoriasis: 76-week results from a randomised, double-blind, placebo-controlled trial (PHOENIX 1). Lancet 371, 1665-1674 (2008).
78. Santos FP, Ravandi F. Advances in treatment of chronic myelogenous leukemia-new treatment options with tyrosine kinase inhibitors. Leuk. Lymphoma 50 (Suppl. 2), 16-26 (2009)
79. The International Warfarin Pharmacogenetics Consortium. Estimation of the warfarin dose with clinical and pharmacogenetic data. N Engl. J. Med. 360, 753-764 (2009).
80. Phillips KA, Veenstra DL, Oren E, Lee JK, Sadee W. Potential role of pharmacogenomics in reducing adverse drug reactions: a systematic review. JAMA 286(18), 2270-2279 (2001).
81. Asumalahti K, Ameen M, Suomela S et al. Genetic analysis of PSORS1 distinguishes guttate psoriasis and palmoplantar pustulosis. J. Invest Dermatol. 120(4), 627-632 (2003).
82. Griffths CE, Christophers E, Barker JN et al. A classifcation of psoriasis vulgaris according to phenotype. Br. J. Dermatol. 156(2), 258-262 (2007).
83. Warren RB, Griffths CE. The potential of pharmacogenetics in optimizing the use of methotrexate in psoriasis. Br. J. Dermatol. 153, 869-873 (2005).