Polymorphisms of the IL12B and IL23R genes are associated with psoriasis

Journal of Investigative Dermatology

Volumn 128, Issue 7, 2008, Pages 1653-1661

  Nair, Rajan P ^a   Ruether, Andreas ^b   Stuart, Philip E ^a   Jenisch, Stefan ^b   Tejasvi, Trilokraj ^a   Hiremagalore, Ravi ^a   Schreiber, Stefan ^b   Kabelitz, Dieter ^b   Lim, Henry W ^c   Voorhees, John J ^a   Christophers, Enno ^b   Elder, James T ^a,d,e   Weichenthal, Michael ^b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF KIEL   (Germany)

^c HENRY FORD HOSPITAL   (United States)

^d VA ANN ARBOR HEALTHCARE SYSTEM   (United States)

^e UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE CONTROL STUDY; CAUCASIAN; CONTROLLED STUDY; CROHN DISEASE; DISEASE ASSOCIATION; FAMILY STUDY; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GERMANY; HAPLOTYPE; HUMAN; IL12B GENE; IL23R GENE; MAJOR CLINICAL STUDY; MALE; NORTH AMERICA; PEDIGREE; PRIORITY JOURNAL; PSORIASIS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 42149140747     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5701255     Document Type: Article

References (55)

1. Agresti A (2002) Categorical Data Analysis. Hoboken, NJ: John Wiley & Sons
2. Boyman O, Conrad C, Tonel G, Gilliet M, Nestle FO (2007) The pathogenic role of tissue-resident immune cells in psoriasis. Trends Immunol 28:51-7
3. Capon F, Di Meglio P, Szaub J, Prescott NJ, Dunster C, Baumber L et al. (2007) Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum Genet 122:201-6
4. Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP et al. (2007) A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet 80:273-90
5. Chang YT, Chou CT, Yu CW, Lin MW, Shiao YM, Chen CC et al. (2007) Cytokine gene polymorphisms in Chinese patients with psoriasis. Br J Dermatol 156:899-905
6. Cockerham CC, Weir BS (1977) Digenic descent measures for finite populations. Genet Res 30:121-47
7. Cordell HJ (2002) Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans. Hum Mol Genet 11: 2463-8
8. Cordell HJ (2006) Estimation and testing of genotype and haplotype effects in case-control studies: comparison of weighted regression and multiple imputation procedures. Genet Epidemiol 30:259-75
9. Czika W, Weir BS (2004) Properties of the multiallelic trend test. Biometrics 60:69-74
10. Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ et al. (2006) A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314:1461-3
11. Freimer N, Sabatti C (2004) The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology. Nat Genet 36:1045-51
12. French B, Lumley T, Monks SA, Rice KM, Hindorff LA, Reiner AP et al. (2006) Simple estimates of haplotype relative risks in case-control data. Genet Epidemiol 30:485-94
13. Fuss IJ, Becker C, Yang Z, Groden C, Hornung RL, Heller F et al. (2006) Both IL-12p70 and IL-23 are synthesized during active Crohn's disease and are downregulated by treatment with anti-IL-12 p40 monoclonal antibody. Inflamm Bowel Dis 12:9-15
14. Giardina E, Novelli G, Costanzo A, Nistico S, Bulli C, Sinibaldi C et al. (2004) Psoriatic arthritis and CARD15 gene polymorphisms: no evidence for association in the Italian population. J Invest Dermatol 122:1106-7
15. Hall MA, McGlinn E, Coakley G, Fisher SA, Boki K, Middleton D et al. (2000) Genetic polymorphism of IL-12 p40 gene in immune-mediated disease. Genes Immun 1:219-24
16. Hampe J, Cuthbert A, Croucher PJ, Mirza MM, Mascheretti S, Fisher S et al. (2001) Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. Lancet 357:1925-8
17. Henseler T, Christophers E (1985) Psoriasis of early and late onset: characterization of two types of psoriasis vulgaris. J Am Acad Dermatol 13:450-6
18. Ho P, Bruce IN, Silman A, Symmons D, Newman B, Young H et al. (2005) Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis. Arthritis Rheum 52:3596-602
19. Horvath S, Xu X, Laird NM (2001) The family based association test method: strategies for studying general genotype - phenotype associations. Eur J Hum Genet 9:301-6
20. Horvath S, Xu X, Lake SL, Silverman EK, Weiss ST, Laird NM (2004) Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics. Genet Epidemiol 26:61-9
21. Hugot JP (2006) CARD15/NOD2 mutations in Crohn's disease. Ann N Y Acad Sci 1072:9-18
22. Iwakura Y, Ishigame H (2006) The IL-23/IL-17 axis in inflammation. J Clin Invest 116:1218-22
23. Jenisch S, Hampe J, Elder JT, Nair R, Stuart P, Voorhees JJ et al. (2006) CARD15 mutations in patients with plaque-type psoriasis and psoriatic arthritis: lack of association. Arch Dermatol Res 297:409-11
24. Kader HA, Tchernev VT, Satyaraj E, Lejnine S, Kotler G, Kingsmore SF et al. (2005) Protein microarray analysis of disease activity in pediatric inflammatory bowel disease demonstrates elevated serum PLGF, IL-7, TGF-beta1, and IL-12p40 levels in Crohn's disease and ulcerative colitis patients in remission versus active disease. Am J Gastroenterol 100: 414-23
25. Krueger GG, Langley RG, Leonardi C, Yeilding N, Guzzo C, Wang Y et al. (2007) A human interleukin-12/23 monoclonal antibody for the treatment of psoriasis. N Engl J Med 356:580-92
26. Lascorz J, Burkhardt H, Huffmeier U, Bohm B, Schurmeyer-Horst F, Lohmann J et al. (2005) Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort. Ann Rheum Dis 64:951-4
27. Lee E, Trepicchio WL, Oestreicher JL, Pittman D, Wang F, Chamian F et al. (2004) Increased expression of interleukin 23 p19 and p40 in lesional skin of patients with psoriasis vulgaris. J Exp Med 199:125-30
28. Lee FI, Bellary SV, Francis C (1990) Increased occurrence of psoriasis in patients with Crohn's disease and their relatives [see comments]. Am J Gastroenterol 85:962-3
29. Lowes MA, Bowcock AM, Krueger JG (2007) Pathogenesis and therapy of psoriasis. Nature 445:866-73
30. Mannon PJ, Fuss IJ, Mayer L, Elson CO, Sandborn WJ, Present D et al. (2004) Anti-interleukin-12 antibody for active Crohn's disease. N Engl J Med 351:2069-79
31. Mensah FK, Gilthorpe MS, Davies CF, Keen LJ, Adamson PJ, Roman E et al. (2007) Haplotype uncertainty in association studies. Genet Epidemiol 31:348-57
32. Murphy CA, Langrish CL, Chen Y, Blumenschein W, McClanahan T, Kastelein RA et al. (2003) Divergent pro- and antiinflammatory roles for IL-23 and IL-12 in joint autoimmune inflammation. J Exp Med 198:1951-7
33. Nair RP, Guo SW, Jenisch S, Henseler T, Lange EM, Terhune M et al. (1995) Scanning chromosome 17 for psoriasis susceptibility: lack of evidence for a distal 17q locus. Hum Hered 45:219-30
34. Nair RP, Henseler T, Jenisch S, Stuart P, Bichakjian CK, Lenk W et al. (1997) Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan. Hum Mol Genet 6:1349-56
35. Nair RP, Stuart P, Ogura Y, Inohara N, Chia NV, Young L et al. (2001) Lack of association between NOD2 3020InsC frameshift mutation and psoriasis. J Invest Dermatol 117:1671-2
36. Nair RP, Stuart PE, Nistor I, Hiremagalore R, Chia NV, Jenisch S et al. (2006) Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. Am J Hum Genet 78:827-51
37. Najarian DJ, Gottlieb AB (2003) Connections between psoriasis and Crohn's disease. J Am Acad Dermatol 48:805-21
38. Nickoloff BJ (2007) Cracking the cytokine code in psoriasis. Nat Med 13:242-4
39. Nielsen DM, Ehm MG, Zaykin DV, Weir BS (2004) Effect of two- and three-locus linkage disequilibrium on the power to detect marker/phenotype associations. Genetics 168:1029-40
40. Nielsen DM, Weir BS (1999) A classical setting for associations between markers and loci affecting quantitative traits. Genet Res 74:271-7
41. Piskin G, Sylva-Steenland RM, Bos JD, Teunissen MB (2006) In Vitro and in situ expression of IL-23 by keratinocytes in healthy skin and psoriasis lesions: enhanced expression in psoriatic skin. J Immunol 176:1908-15
42. Rabinowitz D, Laird N (2000) A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information. Hum Hered 50:211-23
43. Rahman P, Bartlett S, Siannis F, Pellett FJ, Farewell VT, Peddle L et al. (2003) CARD15: a pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis. Am J Hum Genet 73:677-81
44. Schreiber S, Rosenstiel P, Albrecht M, Hampe J, Krawczak M (2005) Genetics of Crohn disease, an archetypal inflammatory barrier disease. Nat Rev Genet 6:376-88
45. Schrodi SJ, Garcia VE, Rowland C, Jones HB (2007) Pairwise linkage disequilibrium under disease models. Eur J Hum Genet 15:212-20
46. Slager SL, Schaid DJ (2001) Evaluation of candidate genes in case-control studies: a statistical method to account for related subjects. Am J Hum Genet 68:1457-62
47. Steinman L (2007) A brief history of T(H)17, the first major revision in the T(H)1/T(H)2 hypothesis of T cell-mediated tissue damage. Nat Med 13:139-45
48. Stephens M, Donnelly P (2003) A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73:1162-9
49. Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-89
50. Tsunemi Y, Saeki H, Nakamura K, Sekiya T, Hirai K, Fujita H et al. (2002) Interleukin-12 p40 gene (IL12B) 3′-untranslated region polymorphism is associated with susceptibility to atopic dermatitis and psoriasis vulgaris. J Dermatol Sci 30:161-6
51. Wang T, Zhu X, Elston RC (2007) Improving power in contrasting linkage-disequilibrium patterns between cases and controls. Am J Hum Genet 80:911-20
52. Weir BS (1996) Genetic Data Analysis II: Methods for Discrete Population Genetic Data. Sunderland, MA: Sinauer
53. Wigginton JE, Cutler DJ, Abecasis GR (2005) A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet 76:887-93
54. Yen D, Cheung J, Scheerens H, Poulet F, McClanahan T, McKenzie B et al. (2006) IL-23 is essential for T cell-mediated colitis and promotes inflammation via IL-17 and IL-6. J Clin Invest 116:1310-6
55. Zaykin DV, Meng Z, Ehm MG (2006) Contrasting linkage-disequilibrium patterns between cases and controls as a novel association-mapping method. Am J Hum Genet 78:737-46