What have we learned about genetic susceptibility in psoriasis and psoriatic arthritis?

Current Opinion in Rheumatology

Volumn 27, Issue 1, 2015, Pages 91-98

  Eder, Lihi ^a   Chandran, Vinod ^a   Gladman, Dafna D ^a  

^a TORONTO WESTERN HOSPITAL   (Canada)

Author keywords

Genetic epidemiology; Psoriatic disease; Risk factors

Indexed keywords

LEUKOCYTE ANTIGEN;

CHROMOSOME 16Q; FAMILIAL DISEASE; GENETIC SUSCEPTIBILITY; GENOME IMPRINTING; HUMAN; INHERITANCE; MAJOR HISTOCOMPATIBILITY COMPLEX; PATHOGENESIS; PSORIASIS; PSORIATIC ARTHRITIS; REVIEW; ADAPTIVE IMMUNITY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; INNATE IMMUNITY;

ADAPTIVE IMMUNITY; ARTHRITIS, PSORIATIC; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; IMMUNITY, INNATE; PSORIASIS;

EID: 84918541676     PISSN: 10408711     EISSN: 15316963     Source Type: Journal    
DOI: 10.1097/BOR.0000000000000136     Document Type: Review

References (95)

1. Gelfand JM, Weinstein R, Porter SB, et al. Prevalence and treatment of psoriasis in the United Kingdom: A population-based study. Arch Dermatol 2005; 141:1537-1541.
2. Ferrandiz C, Bordas X, Garcia-Patos V, et al. Prevalence of psoriasis in Spain (Epiderma Project: phase I). J Eur Acad Dermatol Venereol 2001; 15:20-23.
3. Haroon M, Kirby B, FitzGerald O. High prevalence of psoriatic arthritis in patients with severe psoriasis with suboptimal performance of screening questionnaires. Ann Rheum Dis 2013; 72:736-740.
4. Prey S, Paul C, Bronsard V, et al. Assessment of risk of psoriatic arthritis in patients with plaque psoriasis: A systematic review of the literature. J Eur Acad Dermatol Venereol 2010; 24 (Suppl 2):31-35.
5. Healy PJ, Helliwell PS. Classification of the spondyloarthropathies. Curr Opin Rheumatol 2005; 17:395-399.
6. Elder JT, Nair RP, Guo SW, et al. The genetics of psoriasis. Arch Dermatol 1994; 130:216-224.
7. Di Lernia V, Ficarelli E, Lallas A, et al. Familial aggregation of moderate to severe plaque psoriasis. Clin Exp Dermatol 2014; 39:801-805.
8. Langley RG, Krueger GG, Griffiths CE. Psoriasis: epidemiology, clinical features, and quality of life. Ann Rheum Dis 2005; 64 (Suppl 2):ii18-ii23; discussion ii 24-25.
9. Brandrup F, Holm N, Grunnet N, et al. Psoriasis in monozygotic twins: variations in expression in individuals with identical genetic constitution. Acta Derm Venereol 1982; 62:229-236.
10. Duffy DL, Spelman LS, Martin NG. Psoriasis in Australian twins. J Am Acad Dermatol 1993; 29:428-434.
11. Farber EM, Nall ML, Watson W. Natural history of psoriasis in 61 twin pairs. Arch Dermatol 1974; 109:207-211.
12. Lonnberg AS, Skov L, Skytthe A, et al. Heritability of psoriasis in a large twin sample. Br J Dermatol 2013; 169:412-416.
13. Moll JM, Wright V. Familial occurrence of psoriatic arthritis. Ann Rheum Dis 1973; 32:181-201.
14. Myers A, Kay LJ, Lynch SA, et al. Recurrence risk for psoriasis and psoriatic arthritis within sibships. Rheumatology 2005; 44:773-776.
15. Chandran V, Schentag CT, Brockbank JE, et al. Familial aggregation of psoriatic arthritis. Ann Rheum Dis 2009; 68:664-667.
16. Karason A, Love TJ, Gudbjornsson B. A strong heritability of psoriatic arthritis over four generations-the Reykjavik Psoriatic Arthritis Study. Rheumatology 2009; 48:1424-1428.
17. Elder JT, Nair RP, Henseler T, et al. The genetics of psoriasis 2001: The odyssey continues. Arch Dermatol 2001; 137:1447-1454.
18. Rahman P, Gladman DD, Schentag CT, et al. Excessive paternal transmission in psoriatic arthritis. Arthritis Rheum 1999; 42:1228-1231.
19. Traupe H, van Gurp PJ, Happle R, et al. Psoriasis vulgaris, fetal growth, and genomic imprinting. Am J Med Genet 1992; 42:649-654.
20. Reik W. Genomic imprinting and genetic disorders in man. Trends Genet 1989; 5:331-336.
21. Burden AD, Javed S, Bailey M, et al. Genetics of psoriasis: paternal inheritance and a locus on chromosome 6p. J Invest Dermatol 1998; 110:958- 960.
22. Karason A, Gudjonsson JE, Upmanyu R, et al. A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting. Am J Hum Genet 2003; 72:125-131.
23. 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.
24. Russell TJ, Schultes LM, Kuban DJ. Histocompatibility (HL-A) antigens associated with psoriasis. N Engl J Med 1972; 287:738-740.
25. Tiilikainen A, Lassus A, Karvonen J, et al. Psoriasis and HLA-Cw6. Br J Dermatol 1980; 102:179-184.
26. Balendran N, Clough RL, Arguello JR, et al. Characterization of the major susceptibility region for psoriasis at chromosome 6p21.3. J Invest Dermatol 1999; 113:322-328.
27. Feng BJ, Sun LD, Soltani-Arabshahi R, et al. Multiple Loci within the major histocompatibility complex confer risk of psoriasis. PLoS Genet 2009; 5:e1000606.
28. Gudjonsson JE, Karason A, Antonsdottir AA, et al. HLA-Cw6-positive and HLA-Cw6-negative patients with psoriasis vulgaris have distinct clinical features. J Invest Dermatol 2002; 118:362-365.
29. Enerback C, Martinsson T, Inerot A, et al. Evidence that HLA-Cw6 determines early onset of psoriasis, obtained using sequence-specific primers (PCRSSP). Acta Derm Venereol 1997; 77:273-276.
30. Asumalahti K, Laitinen T, Itkonen-Vatjus R, et al. A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a diseaseassociated susceptibility allele. Hum Mol Genet 2000; 9:1533-1542.
31. Tazi Ahnini R, Camp NJ, Cork MJ, et al. Novel genetic association between the corneodesmosin (MHC S) gene and susceptibility to psoriasis. Hum Mol Genet 1999; 8:1135-1140.
32. Chia NV, Stuart P, Nair RP, et al. Variations in the HCR (Pg8) gene are unlikely to be causal for familial psoriasis. J Invest Dermatol 2001; 116:823- 824.
33. Enerback C, Nilsson S, Enlund F, et al. Stronger association with HLA-Cw6 than with corneodesmosin (S-gene) polymorphisms in Swedish psoriasis patients. Arch Dermatol Res 2000; 292:525-530.
34. Nair RP, Stuart PE, Nistor I, et al. Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. Am J Hum Genet 2006; 78:827-851.
35. Zhang XJ, Huang W, Yang S, et al. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet 2009; 41:205-210.
36. Okada Y, Han B, Tsoi LC, et al. Fine mapping major histocompatibility complex associations in psoriasis and its clinical subtypes. Am J Hum Genet 2014; 95:162-172.
37. Genetic Analysis of Psoriasis Consortium and the Wellcome Trust Case Control Consortium. Strange A, Capon F, Spencer CC, et al. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet 2010; 42:985-990.
38. Lanier LL. NK cell recognition. Annu Rev Immunol 2005; 23:225-274.
39. Chandran V, Bull SB, Pellett FJ, et al. Killer-cell immunoglobulin-like receptor gene polymorphisms and susceptibility to psoriatic arthritis. Rheumatology 2014; 53:233-239.
40. Espinoza LR, Vasey FB, Gaylord SW, et al. Histocompatibility typing in the seronegative spondyloarthropathies: A survey. Semin Arthritis Rheum 1982; 11:375-381.
41. Lopez-Larrea C, Torre Alonso JC, Rodriguez Perez A, et al. HLA antigens in psoriatic arthritis subtypes of a Spanish population. Ann Rheum Dis 1990; 49:318-319.
42. McHugh NJ, Laurent MR, Treadwell BL, et al. Psoriatic arthritis: clinical subgroups and histocompatibility antigens. Ann Rheum Dis 1987; 46:184-188.
43. Chandran V, Bull SB, Pellett FJ, et al. Human leukocyte antigen alleles and susceptibility to psoriatic arthritis. Hum Immunol 2013; 74:1333-1338.
44. Popa OM, Popa L, Dutescu MI, et al. HLA-C locus and genetic susceptibility to psoriatic arthritis in Romanian population. Tissue Antigens 2011; 77:325- 328.
45. Ho PY, Barton A, Worthington J, et al. Investigating the role of the HLA-Cw-06 and HLA-DRB1 genes in susceptibility to psoriatic arthritis: comparison with psoriasis and undifferentiated inflammatory arthritis. Ann Rheum Dis 2008; 67:677-682.
46. Eder L, Chandran V, Pellet F, et al. Human leucocyte antigen risk alleles for psoriatic arthritis among patients with psoriasis. Ann Rheum Dis 2012; 71:50-55.
47. Winchester R, Minevich G, Steshenko V, et al. HLA associations reveal genetic heterogeneity in psoriatic arthritis and in the psoriasis phenotype. Arthritis Rheum 2012; 64:1134-1144.
48. Ho PY, Barton A, Worthington J, et al. HLA-Cw6 and HLA-DRB1-07 together are associated with less severe joint disease in psoriatic arthritis. Ann Rheum Dis 2007; 66:807-811.
49. Queiro R, Gonzalez S, Lopez-Larrea C, et al. HLA-C locus alleles may modulate the clinical expression of psoriatic arthritis. Arthritis Res Ther 2006; 8:R185.
50. Eder L, Chandran V, Pellett F, et al. Differential human leucocyte allele association between psoriasis and psoriatic arthritis: A family-based association study. Ann Rheum Dis 2012; 71:1361-1365.
51. Chandran V, Tolusso DC, Cook RJ, et al. Risk factors for axial inflammatory arthritis in patients with psoriatic arthritis. J Rheumatol 2010; 37:809-815.
52. Queiro R, Torre JC, Gonzalez S, et al. HLA antigens may influence the age of onset of psoriasis and psoriatic arthritis. J Rheumatol 2003; 30:505-507.
53. Gladman DD, Farewell VT. The role of HLA antigens as indicators of disease progression in psoriatic arthritis. Multivariate relative risk model. Arthritis Rheum 1995; 38:845-850.
54. Beck S, Trowsdale J. The human major histocompatability complex: lessons from the DNA sequence. Annu Rev Genomics Hum Genet 2000; 1:117- 137.
55. Ritchlin C, Haas-Smith SA, Hicks D, et al. Patterns of cytokine production in psoriatic synovium. J Rheumatol 1998; 25:1544-1552.
56. Danning CL, Illei GG, Hitchon C, et al. Macrophage-derived cytokine and nuclear factor kappaB p65 expression in synovial membrane and skin of patients with psoriatic arthritis. Arthritis Rheum 2000; 43:1244-1256.
57. Gladman DD. Traditional and newer therapeutic options for psoriatic arthritis: An evidence-based review. Drugs 2005; 65:1223-1238.
58. Hohler T, Kruger A, Schneider PM, et al. A TNF-alpha promoter polymorphism is associated with juvenile onset psoriasis and psoriatic arthritis. J Invest Dermatol 1997; 109:562-565.
59. Mossner R, Kingo K, Kleensang A, et al. Association of TNF -238 and -308 promoter polymorphisms with psoriasis vulgaris and psoriatic arthritis but not with pustulosis palmoplantaris. J Invest Dermatol 2005; 124:282-284.
60. Rahman P, Siannis F, Butt C, et al. TNFalpha polymorphisms and risk of psoriatic arthritis. Ann Rheum Dis 2006; 65:919-923.
61. Gonzalez S, Martinez-Borra J, Torre-Alonso JC, et al. The MICA-A9 triplet repeat polymorphism in the transmembrane region confers additional susceptibility to the development of psoriatic arthritis and is independent of the association of Cw-0602 in psoriasis. Arthritis Rheum 1999; 42:1010- 1016.
62. Gonzalez S, Brautbar C, Martinez-Borra J, et al. Polymorphism in MICA rather than HLA-B/C genes is associated with psoriatic arthritis in the Jewish population. Hum Immunol 2001; 62:632-638.
63. Gonzalez S, Martinez-Borra J, Lopez-Vazquez A, et al. MICA rather than MICB, TNFA, or HLA-DRB1 is associated with susceptibility to psoriatic arthritis. J Rheumatol 2002; 29:973-978.
64. Grubic Z, Peric P, Eeeuk-Jelicic E, et al. The MICA-A4 triplet repeats polymorphism in the transmembrane region confers additional risk for development of psoriatic arthritis in the Croatian population. Eur J Immunogenet 2004; 31:93-98.
65. Pollock R, Chandran V, Barrett J, et al. Differential major histocompatibility complex class I chain-related A allele associations with skin and joint manifestations of psoriatic disease. Tissue Antigens 2011; 77:554-561.
66. Tang H, Jin X, Li Y, et al. A large-scale screen for coding variants predisposing to psoriasis. Nat Genet 2014; 46:45-50.
67. Ellinghaus E, Ellinghaus D, Stuart PE, et al. Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. Nat Genet 2010; 42:991-995.
68. Huffmeier U, Uebe S, Ekici AB, et al. Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet 2010; 42:996-999.
69. Nair RP, Duffin KC, Helms C, et al. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet 2009; 41:199- 204.
70. Liu Y, Helms C, Liao W, et al. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet 2008; 4:e1000041.
71. Cargill M, Schrodi SJ, Chang M, et al. 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.
72. Sherlock JP, Joyce-Shaikh B, Turner SP, et al. IL-23 induces spondyloarthropathy by acting on ROR-gammat CD3CD4-CD8- entheseal resident T cells. Nat Med 2012; 18:1069-1076.
73. Mease PJ, Genovese MC, Greenwald MW, et al. Brodalumab, an anti-IL17RA monoclonal antibody, in psoriatic arthritis. N Engl J Med 2014; 370:2295- 2306.
74. Gottlieb A, Menter A, Mendelsohn A, et al. Ustekinumab, a human interleukin 12/23 monoclonal antibody, for psoriatic arthritis: randomised, double-blind, placebo-controlled, crossover trial. Lancet 2009; 373:633-640.
75. Ellinghaus E, Stuart PE, Ellinghaus D, et al. Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL. J Invest Dermatol 2012; 132:1133-1140.
76. Duffin KC, Freeny IC, Schrodi SJ, et al. Association between IL13 polymorphisms and psoriatic arthritis is modified by smoking. J Invest Dermatol 2009; 129:2777-2783.
77. Eder L, Chandran V, Pellett F, et al. The association between IL-13 polymorphism with psoriatic arthritis among psoriasis patients. Artthritis Rheum 2010; 62S:S830.
78. Bowes J, Ho P, Salah S, et al. IL13 is a risk locus for psoriatic arthritis but not psoriasis vulgaris. Arthritis Rheum 2010; 62S:S348.
79. Huffmeier U, Lascorz J, Bohm B, et al. Genetic variants of the IL-23R pathway: Association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis. J Invest Dermatol 2009; 129:355-358.
80. Filer C, Ho P, Smith RL, et al. Investigation of association of the IL12B and IL23R genes with psoriatic arthritis. Arthritis Rheum 2008; 58:3705- 3709.
81. Jadon D, Tillett W, Wallis D, et al. Exploring ankylosing spondylitis-associated ERAP1, IL23R and IL12B gene polymorphisms in subphenotypes of psoriatic arthritis. Rheumatology 2013; 52:261-266.
82. Eiris N, Gonzalez-Lara L, Santos-Juanes J, et al. Genetic variation at IL12B, IL23R and IL23A is associated with psoriasis severity, psoriatic arthritis and type 2 diabetes mellitus. J Dermatol Sci 2014; 75:167-172.
83. Rahman P, Inman RD, Maksymowych WP, et al. Association of interleukin 23 receptor variants with psoriatic arthritis. J Rheumatol 2009; 36:137-140.
84. Julia A, Tortosa R, Hernanz JM, et al. Risk variants for psoriasis vulgaris in a large case-control collection and association with clinical subphenotypes. Hum Mol Genet 2012; 21:4549-4557.
85. Bowes J, Orozco G, Flynn E, et al. Confirmation of TNIP1 and IL23A as susceptibility loci for psoriatic arthritis. Ann Rheum Dis 2011; 70:1641- 1644.
86. Yang Q, Liu H, Qu L, et al. Investigation of 20 non-HLA (human leucocyte antigen) psoriasis susceptibility loci in Chinese patients with psoriatic arthritis and psoriasis vulgaris. Br J Dermatology 2013; 168:1060-1065.
87. Bowes J, Ho P, Flynn E, et al. Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort. Ann Rheum Dis 2012; 71:1350-1354.
88. Bowes J, Flynn E, Ho P, et al. Variants in linkage disequilibrium with the late cornified envelope gene cluster deletion are associated with susceptibility to psoriatic arthritis. Ann Rheum Dis 2010; 69:2199-2203.
89. Docampo E, Giardina E, Riveira-Munoz E, et al. Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: A study in Spanish and Italian populations and meta-analysis. Arthritis Rheum 2011; 63:1860- 1865.
90. Eder L, Chandran V, Pellett F, et al. IL13 gene polymorphism is a marker for psoriatic arthritis among psoriasis patients. Ann Rheum Dis 2011; 70:1594- 1598.
91. Bowes J, Eyre S, Flynn E, et al. Evidence to support IL-13 as a risk locus for psoriatic arthritis but not psoriasis vulgaris. Ann Rheum Dis 2011; 70:1016- 1019.
92. Jordan CT, Cao L, Roberson ED, et al. PSORS2 is due to mutations in CARD14. Am J Hum Gen 2012; 90:784-795.
93. Jordan CT, Cao L, Roberson ED, et al. Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. Am J Hum Gen 2012; 90:796-808.
94. Radtke MA, Reich K, Blome C, et al. Prevalence and clinical features of psoriatic arthritis and jointcomplaints in 2009 patients with psoriasis: results of a German national survey. J Eur Acad Dermatol Venereol 2009; 23:683-691.
95. Eder L, Chandran V, Shen H, et al. Incidence of arthritis in a prospective cohort of psoriasis patients. Arthritis Care Res 2011; 63:619-622.