Genetic susceptibility to psoriasis: An emerging picture

Genome Medicine

Volumn 1, Issue 7, 2009, Pages

  Smith, Rhodri Ll ^a   Warren, Richard B ^b   Griffiths, Christopher E M ^a   Worthington, Jane ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b HOPE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA DEFENSIN; INTERLEUKIN 12P40; INTERLEUKIN 23; INTERLEUKIN 23 RECEPTOR; INTERLEUKIN 23P19; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ZNF313; TUMOR NECROSIS FACTOR RELATED APOPTOSIS INDUCING LIGAND RECEPTOR 3; UNCLASSIFIED DRUG; USTEKINUMAB;

CLINICAL TRIAL; GENE CLUSTER; GENE DELETION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE NUMBER; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; PATHOGENESIS; PRIORITY JOURNAL; PSORIASIS; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 77952789731     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm72     Document Type: Review

References (72)

1. Griffiths CE, Barker JN: Pathogenesis and clinical features of psoriasis. Lancet 2007, 370:263-271.
2. Henseler T, Christophers E: Psoriasis of early and late onset: characterization of two types of psoriasis vulgaris. J Am Acad Dermatol 1985, 13:450-456.
3. Bowcock AM, Cookson WO: The genetics of psoriasis, pso-riatic arthritis and atopic dermatitis. Hum Mol Genet 2004, 13: R43-R55.
4. Brandrup F, Holm N, Grunnet N, Henningsen K, Hansen HE: Psoriasis in monozygotic twins: variations in expression in individuals with identical genetic constitution. Acta Derm Venereol 1982, 62:229-236.
5. Farber EM, Bright RD, Nall ML: Psoriasis. A questionnaire survey of 2,144 patients. Arch Dermatol 1968, 98:248-259.
6. Lomholt G: Prevalence of skin diseases in a population; a census study from the Faroe Islands. Dan Med Bull 1964, 11: 1-7
7. Watson W, Cann HM, Farber EM, Nall ML: The genetics of psoriasis. Arch Dermatol 1972, 105:197-207.
8. Morris A, Rogers M, Fischer G, Williams K: Childhood psoria-sis: a clinical review of 1262 cases. Pediatr Dermatol 2001, 18:188-198.
9. Elder JT, Nair RP, Voorhees JJ: Epidemiology and the genet-ics of psoriasis. J Invest Dermatol 1994, 102:24S-27S.
10. Elder JT, Nair RP, Guo SW, Henseler T, Christophers E, Voorhees JJ: The genetics of psoriasis. Arch Dermatol 1994, 130:216-224.
11. Farber EM, Nail R: Epidemiology: natural history and genet-ics. In Psoriasis. 3rd edition. Edited by Roenigk HRJ, Maibach HI. New York: Marcel Dekker; 1998:107-157.
12. Rahman P, Elder JT: Genetic epidemiology of psoriasis and psoriatic arthritis. Ann Rheum Dis 2005, 64(Suppl 2):ii37-ii39.
13. Brandrup F, Green A: The prevalence of psoriasis in Denmark. Acta Derm Venereol 1981, 61:344-346.
14. Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA, Fisher SA, Roberts RG, Nimmo ER, Cummings FR, Soars D, Drummond H, Lees CW, Khawaja SA, Bagnall R, Burke DA, Todhunter CE, Ahmad T, Onnie CM, McArdle W, Strachan D, Bethel G, Bryan C, Lewis CM, Deloukas P, Forbes A, Sanderson J, Jewell DP, Satsangi J, Mansfield JC, Cardon L, et al.: Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet 2007, 39:830-832.
15. Rioux JD, Xavier RJ, Taylor KD, Silverberg MS, Goyette P, Huett A, Green T, Kuballa P, Barmada MM, Datta LW, Shugart YY, Griffiths AM, Targan SR, Ippoliti AF, Bernard EJ, Mei L, Nicolae DL, Regueiro M, Schumm LP, Steinhart AH, Rotter JI, Duerr RH, Cho JH, Daly MJ, Brant SR: Genome-wide associ-ation study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogene-sis. Nat Genet 2007, 39:596-604.
16. Massey DC, Parkes M: Genome-wide association scanning highlights two autophagy genes, ATG16L1 and IRGM, as being significantly associated with Crohn's disease. Autophagy 2007, 3:649-651.
17. Russell TJ, Schultes LM, Kuban DJ: Histocompatibility (HL-A) antigens associated with psoriasis. N Engl J Med 1972, 287:738-740.
18. Allen MH, Veal C, Faassen A, Powis SH, Vaughan RW, Trembath RC, Barker JN: A non-HLA gene within the MHC in psoriasis. Lancet 1999, 353:1589-1590.
19. Asumalahti K, Laitinen T, Itkonen-Vatjus R, Lokki ML, Suomela S, Snellman E, Saarialho-Kere U, Kere J: A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymor-phic with a disease-associated susceptibility allele. Hum Mol Genet 2000, 9:1533-1542.
20. Mallon E, Bunce M, Wojnarowska F, Welsh K: HLA-CW*0602 is a susceptibility factor in type I psoriasis, and evidence Ala-73 is increased in male type I psoriatics. J Invest Dermatol 1997, 109:183-186.
21. Nair RP, Stuart P, Henseler T, Jenisch S, Chia NV, Westphal E, Schork NJ, Kim J, Lim HW, Christophers E, Voorhees JJ, Elder JT: Localization of psoriasis-susceptibility locus PSORS1 to a 60-kb interval telomeric to HLA-C. Am J Hum Genet 2000, 66:1833-1844.
22. Balendran N, Clough RL, Arguello JR, Barber R, Veal C, Jones AB, Rosbotham JL, Little AM, Madrigal A, Barker JN, Powis SH, Trembath RC: Characterization of the major suscepti-bility region for psoriasis at chromosome 6p21.3. J Invest Dermatol 1999, 113:322-328.
23. Oka A, Tamiya G, Tomizawa M, Ota M, Katsuyama Y, Makino S, Shiina T, Yoshitome M, Iizuka M, Sasao Y, Iwashita K, Kawakubo Y, Sugai J, Ozawa A, Ohkido M, Kimura M, Bahram S, Inoko H: Association analysis using refined microsatel-lite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene. Hum Mol Genet 1999, 8:2165-2170.
24. Veal CD, Capon F, Allen MH, Heath EK, Evans JC, Jones A, Patel S, Burden D, Tillman D, Barker JN, Trembath RC: Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus. Am J Hum Genet 2002, 71:554-564.
25. Nair RP, Stuart PE, Nistor I, Hiremagalore R, Chia NV, Jenisch S, Weichenthal M, Abecasis GR, Lim HW, Christophers E, Voorhees JJ, Elder JT: Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. Am J Hum Genet 2006, 78:827-851.
26. Fan X, Yang S, Huang W, Wang ZM, Sun LD, Liang YH, Gao M, Ren YQ, Zhang KY, Du WH, Shen YJ, Liu JJ, Zhang XJ: Fine mapping of the psoriasis susceptibility locus PSORS1 supports HLA-C as the susceptibility gene in the Han Chinese population. PLoS Genet 2008, 4:e1000038.
27. Trembath RC, Clough RL, Rosbotham JL, Jones AB, Camp RD, Frodsham A, Browne J, Barber R, Terwilliger J, Lathrop GM, Barker JN: Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis. Hum Mol Genet 1997, 6:813-820.
28. Nair RP, Henseler T, Jenisch S, Stuart P, Bichakjian CK, Lenk W, Westphal E, Guo SW, Christophers E, Voorhees JJ, Elder JT: Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan. Hum Mol Genet 1997, 6:1349-1356.
29. Lee YA, Ruschendorf F, Windemuth C, Schmitt-Egenolf M, Stadelmann A, Nurnberg G, Stander M, Wienker TF, Reis A, Traupe H: Genomewide scan in German families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13. Am J Hum Genet 2000, 67:1020-1024.
30. Veal CD, Clough RL, Barber RC, Mason S, Tillman D, Ferry B, Jones AB, Ameen M, Balendran N, Powis SH, Burden AD, Barker JN, Trembath RC: Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci. J Med Genet 2001, 38:7-13.
31. Zhang K, Calabrese P, Nordborg M, Sun F: Haplotype block structure and its applications to association studies: power and study designs. Am J Hum Genet 2002, 71:1386-1394.
32. Tomfohrde J, Silverman A, Barnes R, Fernandez-Vina MA, Young M, Lory D, Morris L, Wuepper KD, Stastny P, Menter A: Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. Science 1994, 264:1141-1145.
33. Samuelsson L, Enlund F, Torinsson A, Yhr M, Inerot A, Enerback C, Wahlstrom J, Swanbeck G, Martinsson T: A genome-wide search for genes predisposing to familial psoriasis by using a stratification approach. Hum Genet 1999, 105:523-529.
34. Enlund F, Samuelsson L, Enerback C, Inerot A, Wahlstrom J, Yhr M, Torinsson A, Riley J, Swanbeck G, Martinsson T: Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden. Eur J Hum Genet 1999, 7:783-790.
35. Karason A, Gudjonsson JE, Jonsson HH, Hauksson VB, Runarsdottir EH, Stefansson K, Valdimarsson H, Gulcher JR: Genetics of psoriasis in Iceland: evidence for linkage of subphenotypes to distinct loci. J Invest Dermatol 2005, 124:1177-1185.
36. Lesueur F, Lefevre C, Has C, Guilloud-Bataille M, Oudot T, Mahe E, Lahfa M, Mansouri S, Mosharraf-Olmolk H, Sobel E, Heath S, Lathrop M, Dizier MH, Prud'homme JF, Fischer J: Confirmation of psoriasis susceptibility loci on chromo-some 6p21 and 20p13 in French families. J Invest Dermatol 2007, 127:1403-1409.
37. Smith RL, Warren RB, Eyre S, Ke X, Young HS, Allen M, Strachan D, McArdle W, Gittins MP, Barker JN, Griffiths CE, Worthington J: Polymorphisms in the PTPN22 region are associated with psoriasis of early onset. Br J Dermatol 2008, 158:962-968.
38. Lesueur F, Oudot T, Heath S, Foglio M, Lathrop M, Prud'homme JF, Fischer J: ADAM33, a new candidate for psoriasis sus-ceptibility. PLoS ONE 2007, 2:e906.
39. Siroux V, Bouzigon E, Dizier MH, Pin I, Demenais F, Kauffmann F: Replication of association between ADAM33 polymor-phisms and psoriasis. PLoS ONE 2008, 3:e2448.
40. Wolf N, Quaranta M, Prescott NJ, Allen M, Smith R, Burden AD, Worthington J, Griffiths CE, Mathew CG, Barker JN, Capon F, Trembath RC: Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease. J Med Genet 2008, 45:114-116.
41. Li Y, Liao W, Chang M, Schrodi SJ, Bui N, Catanese JJ, Poon A, Matsunami N, Callis-Duffin KP, Leppert MF, Bowcock AM, Kwok PY, Krueger GG, Begovich AB: Further genetic evi-dence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22. J Invest Dermatol 2009, 129:629-634.
42. Zhang XJ, Yan KL, Wang ZM, Yang S, Zhang GL, Fan X, Xiao FL, Gao M, Cui Y, Wang PG, Sun LD, Zhang KY, Wang B, Wang DZ, Xu SJ, Huang W, Liu JJ: Polymorphisms in inter-leukin-15 gene on chromosome 4q31.2 are associated with psoriasis vulgaris in Chinese population. J Invest Dermatol 2007, 127:2544-2551.
43. Smith RL, Eyre S, Warren RB, Young HS, Griffiths CE, Worthington J: No association between polymorphisms in the interleukin-15 gene and early-onset psoriasis in a UK cohort suggests heterogeneity for this susceptibility locus identified in Chinese psoriasis patients. J Invest Dermatol 2008, 128:2904-2905.
44. Weger W, Hofer A, Wolf P, El-Shabrawi Y, Renner W, Kerl H, Salmhofer W: Role of the interleukin 15 96516A>T and IL15 96330C>A gene polymorphisms in Caucasian patients with chronic plaque psoriasis. J Dermatol Sci 2008, 51:147-149.
45. Becker KG, Simon RM, Bailey-Wilson JE, Freidlin B, Biddison WE, McFarland HF, Trent JM: Clustering of non-major histo-compatibility complex susceptibility candidate loci in human autoimmune diseases. Proc Natl Acad Sci USA 1998, 95:9979-9984.
46. Lee FI, Bellary SV, Francis C: Increased occurrence of pso-riasis in patients with Crohn's disease and their relatives. Am J Gastroenterol 1990, 85:962-963.
47. Wellcome Trust Case Control Consortium: Genome-wide association study of 14,000 cases of seven common dis-eases and 3,000 shared controls. Nature 2007, 447:661-678.
48. International HapMap Project [http://www.hapmap.org]
49. Capon F, Di MP, Szaub J, Prescott NJ, Dunster C, Baumber L, Timms K, Gutin A, Abkevic V, Burden AD, Lanchbury J, Barker JN, Trembath RC, Nestle FO: Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum Genet 2007, 122:201-206.
50. Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP, Matsunami N, Ardlie KG, Civello D, Catanese JJ, Leong DU, Panko JM, McAllister LB, Hansen CB, Papenfuss J, Prescott SM, White TJ, Leppert MF, Krueger GG, Begovich AB: A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet 2007, 80:273-290.
51. Liu C, Batliwalla F, Li W, Lee A, Roubenoff R, Beckman E, Khalili H, Damle A, Kern M, Furie R, Dupuis J, Plenge RM, Coenen MJ, Behrens TW, Carulli JP, Gregersen PK: Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. Mol Med 2008, 14:575-581.
52. Nair RP, Duffin KC, Helms C, Ding J, Stuart PE, Goldgar D, Gudjonsson JE, Li Y, Tejasvi T, Feng BJ, Ruether A, Schreiber S, Weichenthal M, Gladman D, Rahman P, Schrodi SJ, Prahalad S, Guthery SL, Fischer J, Liao W, Kwok PY, Menter A, Lathrop GM, Wise CA, Begovich AB, Voorhees JJ, Elder JT, Krueger GG, Bowcock AM, Abecasis GR: Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet 2009, 41:199-204.
53. Smith RL, Warren RB, Eyre S, Ho P, Ke X, Young HS, Griffiths CE, Worthington J: Polymorphisms in the IL-12beta and IL-23R genes are associated with psoriasis of early onset in a UK cohort. J Invest Dermatol 2008, 128:1325-1327.
54. Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH: A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006, 314:1461-1463.
55. Tsunemi Y, Saeki H, Nakamura K, Sekiya T, Hirai K, Fujita H, Asano N, Kishimoto M, Tanida Y, Kakinuma T, Mitsui H, Tada Y, Wakugawa M, Torii H, Komine M, Asahina A, Tamaki K: Interleukin-12 p40 gene (IL12B) 3'-untranslated region pol-ymorphism is associated with susceptibility to atopic der-matitis and psoriasis vulgaris. J Dermatol Sci 2002, 30:161-166.
56. Randolph AG, Lange C, Silverman EK, Lazarus R, Silverman ES, Raby B, Brown A, Ozonoff A, Richter B, Weiss ST: The IL12B gene is associated with asthma. Am J Hum Genet 2004, 75:709-715.
57. Rueda B, Orozco G, Raya E, Fernandez-Sueiro JL, Mulero J, Blanco FJ, Vilches C, Gonzalez-Gay MA, Martin J: The IL23R Arg381Gln non-synonymous polymorphism confers sus-ceptibility to ankylosing spondylitis. Ann Rheum Dis 2008, 67:1451-1454.
58. Rahman P, Inman RD, Gladman DD, Reeve JP, Peddle L, Maksymowych WP: Association of interleukin-23 receptor variants with ankylosing spondylitis. Arthritis Rheum 2008, 58:1020-1025.
59. Begovich AB, Chang M, Caillier SJ, Lew D, Catanese JJ, Wang J, Hauser SL, Oksenberg JR: The autoimmune disease-associated IL12B and IL23R polymorphisms in multiple sclerosis. Hum Immunol 2007, 68:934-937.
60. Chang M, Saiki RK, Cantanese JJ, Lew D, van der Helm-van Mil AH, Toes RE, Huizinga TW, Ardlie KG, Criswell LA, Seldin MF, Amos CI, Kastner DL, Gregersen PK, Schrodi SJ, Begovich AB: The inflammatory disease-associated variants in IL12B and IL23R are not associated with rheumatoid arthritis. Arthritis Rheum 2008, 58:1877-1881.
61. Orozco G, Gonzalez-Gay MA, Paco L, Lopez-Nevot MA, Guzman M, Pascual-Salcedo D, Balsa A, Martin J: Interleukin 12 (IL12B) and interleukin 12 receptor (IL12RB1) gene poly-morphisms in rheumatoid arthritis. Hum Immunol 2005, 66:710-715.
62. Krueger GG, Langley RG, Leonardi C, Yeilding N, Guzzo C, Wang Y, Dooley LT, Lebwohl M: A human interleukin-12/23 monoclonal antibody for the treatment of psoriasis. N Engl J Med 2007, 356:580-592.
63. Papp KA, Langley RG, Lebwohl M, Krueger GG, Szapary P, Yeilding N, Guzzo C, Hsu MC, Wang Y, Li S, Dooley LT, Reich K: Efficacy and safety of ustekinumab, a human inter-leukin-12/23 monoclonal antibody, in patients with psoria-sis: 52-week results from a randomised, double-blind, placebo-controlled trial (PHOENIX 2). Lancet 2008, 371:1675-1684.
64. Leonardi CL, Kimball AB, Papp KA, Yeilding N, Guzzo C, Wang Y, Li S, Dooley LT, Gordon KB: Efficacy and safety of usteki-numab, a human interleukin-12/23 monoclonal antibody, in patients with psoriasis: 76-week results from a ran-domised, double-blind, placebo-controlled trial (PHOENIX 1). Lancet 2008, 371:1665-1674.
65. Capon F, Bijlmakers MJ, Wolf N, Quaranta M, Huffmeier U, Allen M, Timms K, Abkevich V, Gutin A, Smith R, Warren RB, Young HS, Worthington J, Burden AD, Griffiths CE, Hayday A, Nestle FO, Reis A, Lanchbury J, Barker JN, Trembath RC: Identification of ZNF313/RNF114 as a novel psoriasis sus-ceptibility gene. Hum Mol Genet 2008, 17:1938-1945.
66. Zhang XJ, Huang W, Yang S, Sun LD, Zhang FY, Zhu QX, Zhang FR, Zhang C, Du WH, Pu XM, Li H, Xiao FL, Wang ZX, Cui Y, Hao F, Zheng J, Yang XQ, Cheng H, He CD, Liu XM, Xu LM, Zheng HF, Zhang SM, Zhang JZ, Wang HY, Cheng YL, Ji BH, Fang QY, Li YZ, Zhou FS, et al.: Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet 2009, 41:205-210.
67. Wellcome Trust Case Control Consortium [http://www.wtccc. org.uk]
68. Hollox EJ, Huffmeier U, Zeeuwen PL, Palla R, Lascorz J, Rodijk-Olthuis D, van de Kerkhof PC, Traupe H, de JG, den HM, Reis A, Armour JA, Schalkwijk J: Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet 2008, 40:23-25.68.
69. de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W, Dannhauser EN, Giardina E, Stuart PE, Nair R, Helms C, Escaramis G, Ballana E, Martin-Ezquerra G, den HM, Kamsteeg M, Joosten I, Eichler EE, Lazaro C, Pujol RM, Armengol L, Abecasis G, Elder JT, Novelli G, Armour JA, Kwok PY, Bowcock A, Schalkwijk J, Estivill X: Deletion of the late cornified envelope LCE3B and LCE3C genes as a suscepti-bility factor for psoriasis. Nat Genet 2009, 41:211-215.
70. Genomes Project : A Deep Catalog of Human Genetic Variation [http://www.1000genomes.org]
71. Warren RB, Smith RL, Campalani E, Eyre S, Smith CH, Barker JN, Worthington J, Griffiths CE: Genetic variation in efflux transporters influences outcome to methotrexate therapy in patients with psoriasis. J Invest Dermatol 2008, 128:1925-1929.
72. Hider SL, Thomson W, Mack LF, Armstrong DJ, Shadforth M, Bruce IN: Polymorphisms within the adenosine receptor 2a gene are associated with adverse events in RA patients treated with MTX. Rheumatology (Oxford) 2008, 47:1156-1159.