The Genetics of Psoriasis and Psoriatic Arthritis

REFERENCES

1. 1.↵
   1. Gladman DD,
   2. Antoni C,
   3. Mease P,
   4. Clegg DO,
   5. Nash P

   . Psoriatic arthritis: epidemiology, clinical features, course, and outcome. Ann Rheum Dis2005;64Suppl 2:ii14–7.

   OpenUrlAbstract/FREE Full Text
2. 2.↵
   1. O’Rielly DD,
   2. Rahman P

   . Genetic, epigenetic and pharmacogenetic aspects of psoriasis and psoriatic arthritis. Rheum Dis Clin North Am2015;41:623–42.

   OpenUrl
3. 3.↵
   1. Moll JM,
   2. Wright V

   . Familial occurrence of psoriatic arthritis. Ann Rheum Dis1973;32:181–201.

   OpenUrlFREE Full Text
4. 4.↵
   1. Myers A,
   2. Kay LJ,
   3. Lynch SA,
   4. Walker DJ

   . Recurrence risk for psoriasis and psoriatic arthritis within sibships. Rheumatology2005;44:773–6.

   OpenUrlCrossRefPubMed
5. 5.↵
   1. Chandran V,
   2. Schentag CT,
   3. Brockbank JE,
   4. Pellett FJ,
   5. Shanmugarajah S,
   6. Toloza SM,
   7. et al.

   Familial aggregation of psoriatic arthritis. Ann Rheum Dis2009;68:664–7.

   OpenUrlAbstract/FREE Full Text
6. 6.↵
   1. Karason A,
   2. Love TJ,
   3. Gudbjornsson B

   . A strong heritability of psoriatic arthritis over four generations—the Reykjavik Psoriatic Arthritis Study. Rheumatology2009;48:1424–8.

   OpenUrlCrossRefPubMed
7. 7.↵
   1. Cortes A,
   2. Brown MA

   . Promise and pitfalls of the Immunochip. Arthritis Res Ther2011;13:101.

   OpenUrlCrossRefPubMed
8. 8.↵
   1. Liu Y,
   2. Helms C,
   3. Liao W,
   4. Zaba LC,
   5. Duan S,
   6. Gardner J,
   7. et al.

   A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet2008;4:e1000041.

   OpenUrlCrossRefPubMed
9. 9.↵
   1. Nair RP,
   2. Duffin KC,
   3. Helms C,
   4. Ding J,
   5. Stuart PE,
   6. Goldgar D,
   7. et al;
   8. Collaborative Association Study of Psoriasis

   . Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet2009;41:199–204.

   OpenUrlCrossRefPubMed
10. 10.↵
    1. Zhang XJ,
    2. Huang W,
    3. Yang S,
    4. Sun LD,
    5. Zhang FY,
    6. Zhu QX,
    7. et al.

    Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet2009;41:205–10.

    OpenUrlCrossRefPubMed
11. 11.↵
    1. Genetic Analysis of Psoriasis Consortium and the Wellcome Trust Case Control Consortium 2,
    2. Strange A,
    3. Capon F,
    4. Spencer CC,
    5. Knight J,
    6. et al.

    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet2010;42:985–90.

    OpenUrlCrossRefPubMed
12. 12.↵
    1. Ellinghaus E,
    2. Ellinghaus D,
    3. Stuart PE,
    4. Nair RP,
    5. Debrus S,
    6. Raelson JV,
    7. et al.

    Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. Nat Genet2010;42:991–5.

    OpenUrlCrossRefPubMed
13. 13.↵
    1. Hüffmeier U,
    2. Uebe S,
    3. Ekici AB,
    4. Bowes J,
    5. Giardina E,
    6. Korendowych E,
    7. et al.

    Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet2010;42:996–9.

    OpenUrlCrossRefPubMed
14. 14.↵
    1. Sun LD,
    2. Cheng H,
    3. Wang ZX,
    4. Zhang AP,
    5. Wang PG,
    6. Xu JH,
    7. et al.

    Association analyses identify six new psoriasis susceptibility loci in the Chinese population. Nat Genet2010;42:1005–9.

    OpenUrlCrossRefPubMed
15. 15.↵
    1. Tsoi LC,
    2. Spain SL,
    3. Knight J,
    4. Ellinghaus E,
    5. Stuart PE,
    6. Capon F,
    7. et al;
    8. Collaborative Association Study of Psoriasis (CASP);
    9. Genetic Analysis of Psoriasis Consortium;
    10. Psoriasis Association Genetics Extension;
    11. Wellcome Trust Case Control Consortium 2

    . Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet2012;44:1341–8.

    OpenUrlCrossRefPubMed
16. 16.↵
    1. Ellinghaus E,
    2. Stuart PE,
    3. Ellinghaus D,
    4. Nair RP,
    5. Debrus S,
    6. Raelson JV,
    7. et al.

    Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL. J Invest Dermatol2012;132:1133–40.

    OpenUrlCrossRefPubMed
17. 17.↵
    1. Tsoi LC,
    2. Spain SL,
    3. Ellinghaus E,
    4. Stuart PE,
    5. Capon F,
    6. Knight J,
    7. et al.

    Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci. Nat Commun2015;6:7001.

    OpenUrlCrossRefPubMed
18. 18.↵
    1. Stuart PE,
    2. Nair RP,
    3. Tsoi LC,
    4. Tejasvi T,
    5. Das S,
    6. Kang HM,
    7. et al.

    Genome-wide association analysis of psoriatic arthritis and cutaneous psoriasis reveals differences in their genetic architecture. Am J Hum Genet2015;97:816–36.

    OpenUrlCrossRefPubMed
19. 19.↵
    1. Bowes J,
    2. Budu-Aggrey A,
    3. Huffmeier U,
    4. Uebe S,
    5. Steel K,
    6. Hebert HL,
    7. et al.

    Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis. Nat Commun2015;6:6046.

    OpenUrlCrossRefPubMed
20. 20.↵
    1. Stuart PE,
    2. Nair RP,
    3. Ellinghaus E,
    4. Ding J,
    5. Tejasvi T,
    6. Gudjonsson JE,
    7. et al.

    Genome-wide association analysis identifies three psoriasis susceptibility loci. Nat Genet2010;42:1000–4.

    OpenUrlCrossRefPubMed
21. 21.↵
    1. Bowes J,
    2. Loehr S,
    3. Budu-Aggrey A,
    4. Uebe S,
    5. Bruce IN,
    6. Feletar M,
    7. et al.

    PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus. Ann Rheum Dis2015;74:1882–5.

    OpenUrlAbstract/FREE Full Text
22. 22.↵
    1. Bowes J,
    2. Budu-Aggrey A,
    3. Huffmeier U,
    4. Uebe S,
    5. Steel K,
    6. Hebert HL,
    7. et al.

    Corrigendum: Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis. Nat Commun2015;6:7741.

    OpenUrl
23. 23.↵
    1. Winchester R,
    2. Minevich G,
    3. Steshenko V,
    4. Kirby B,
    5. Kane D,
    6. Greenberg DA,
    7. et al.

    HLA associations reveal genetic heterogeneity in psoriatic arthritis and in the psoriasis phenotype. Arthritis Rheum2012;64:1134–44.

    OpenUrlCrossRefPubMed
24. 24.↵
    1. Okada Y,
    2. Han B,
    3. Tsoi LC,
    4. Stuart PE,
    5. Ellinghaus E,
    6. Tejasvi T,
    7. et al.

    Fine mapping major histocompatibility complex associations in psoriasis and its clinical subtypes. Am J Hum Genet2014;95:162–72.

    OpenUrlCrossRefPubMed
25. 25.↵
    1. Bowes J,
    2. Ashcroft J,
    3. Dand N,
    4. Jalali-Najafabadi F,
    5. Bellou E,
    6. Ho P,
    7. et al.

    Cross-phenotype association mapping of the MHC identifies genetic variants that differentiate psoriatic arthritis from psoriasis. Ann Rheum Dis2017;76:1774–9.

    OpenUrlAbstract/FREE Full Text
26. 26.↵
    1. Haroon M,
    2. Winchester R,
    3. Giles JT,
    4. Heffernan E,
    5. FitzGerald O

    . Clinical and genetic associations of radiographic sacroiliitis and its different patterns in psoriatic arthritis. Clin Exp Rheumatol2017;35:270–6.

    OpenUrl
27. 27.↵
    1. Gladman DD

    . Natural history of psoriatic arthritis. Baillieres Clin Rheumatol1994;8:379–94.

    OpenUrlCrossRefPubMed
28. 28.↵
    1. Mehta NN,
    2. Azfar RS,
    3. Shin DB,
    4. Neimann AL,
    5. Troxel AB,
    6. Gelfand JM

    . Patients with severe psoriasis are at increased risk of cardiovascular mortality: cohort study using the General Practice Research Database. Eur Heart J2010;31:1000–6.

    OpenUrlCrossRefPubMed
29. 29.↵
    1. Mehta NN,
    2. Yu Y,
    3. Pinnelas R,
    4. Krishnamoorthy P,
    5. Shin DB,
    6. Troxel AB,
    7. et al.

    Attributable risk estimate of severe psoriasis on major cardiovascular events. Am J Med2011;124:775.e1–6.

    OpenUrlCrossRefPubMed
30. 30.↵
    1. Mehta NN,
    2. Yu Y,
    3. Saboury B,
    4. Foroughi N,
    5. Krishnamoorthy P,
    6. Raper A,
    7. et al.

    Systemic and vascular inflammation in patients with moderate to severe psoriasis as measured by [18F]-fluorodeoxyglucose positron emission tomography-computed tomography (FDG-PET/CT): a pilot study. Arch Dermatol2011;147:1031–9.

    OpenUrlCrossRefPubMed
31. 31.↵
    1. Tsoi LC,
    2. Stuart PE,
    3. Tian C,
    4. Gudjonsson JE,
    5. Das S,
    6. Zawistowski M,
    7. et al.

    Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. Nat Commun2017;8:15382.

    OpenUrlCrossRef
32. 32.↵
    1. Goldsmith L,
    2. Katz S,
    3. Gilchrest B,
    4. Paller A,
    5. Leffell D,
    6. Wolff K

    1. Gudjonsson J,
    2. Elder J

    . Psoriasis. In: Goldsmith L, Katz S, Gilchrest B, Paller A, Leffell D, Wolff K, editors. Fitzpatrick’s dermatology in general medicine. 8th ed. New York: McGraw-Hill Education-Medical; 2012:197–231.
33. 33.↵
    1. Harden JL,
    2. Krueger JG,
    3. Bowcock AM

    . The immunogenetics of psoriasis: a comprehensive review. J Autoimmun2015;64:66–73.

    OpenUrlCrossRefPubMed
34. 34.↵
    1. Greb JE,
    2. Goldminz AM,
    3. Elder JT,
    4. Lebwohl MG,
    5. Gladman DD,
    6. Wu JJ,
    7. et al.

    Psoriasis. Nat Rev Dis Primers2016;2:16082.

    OpenUrlCrossRefPubMed
35. 35.↵
    1. Kim J,
    2. Krueger JG

    . Highly effective new treatments for psoriasis target the IL-23/type 17 T cell autoimmune axis. Annu Rev Med2017;68:255–69.

    OpenUrl
36. 36.↵
    1. Amatya N,
    2. Garg AV,
    3. Gaffen SL

    . IL-17 signaling: the yin and the yang. Trends Immunol2017;38:310–22.

    OpenUrl
37. 37.↵
    1. Wu L,
    2. Zepp J,
    3. Li X

    . Function of Act1 in IL-17 family signaling and autoimmunity. Adv Exp Med Biol2012;946:223–35.

    OpenUrlCrossRefPubMed
38. 38.↵
    1. Enerbäck C,
    2. Sandin C,
    3. Lambert S,
    4. Zawistowski M,
    5. Stuart PE,
    6. Verma D,
    7. et al.

    The psoriasis-protective TYK2 I684S variant impairs IL-12 stimulated pSTAT4 response in skin-homing CD4+ and CD8+ memory T-cells. Sci Rep2018;8:7043.

    OpenUrl
39. 39.↵
    1. Dendrou CA,
    2. Cortes A,
    3. Shipman L,
    4. Evans HG,
    5. Attfield KE,
    6. Jostins L,
    7. et al.

    Resolving TYK2 locus genotype-to-phenotype differences in autoimmunity. Sci Transl Med2016;8:363ra149.
40. 40.↵
    1. Yu N,
    2. Lambert S,
    3. Bornstein J,
    4. Nair RP,
    5. Enerbäck C,
    6. Elder JT

    . The Act1 D10N missense variant impairs CD40 signaling in human B-cells. Genes Immun2019;20:23–31.

    OpenUrl
41. 41.↵
    1. Lambert S,
    2. Swindell WR,
    3. Tsoi LC,
    4. Stoll SW,
    5. Elder JT

    . Dual role of Act1 in keratinocyte differentiation and host defense: TRAF3IP2 silencing alters keratinocyte differentiation and inhibits IL-17 responses. J Invest Dermatol2017;137:1501–11.

    OpenUrl
42. 42.↵
    1. Zhang CJ,
    2. Wang C,
    3. Jiang M,
    4. Gu C,
    5. Xiao J,
    6. Chen X,
    7. et al.

    Act1 is a negative regulator in T and B cells via direct inhibition of STAT 3. Nat Commun2018;9:2745.

    OpenUrl
43. 43.↵
    1. Lambert S,
    2. Hambro CA,
    3. Johnston A,
    4. Stuart PE,
    5. Tsoi LC,
    6. Nair RP

    . Neutrophil extracellular traps induce human Th17 cells: effect of psoriasis-associated TRAF3IP2 genotype. J Invest Dermatol2018Dec5 (E-pub ahead of print).
44. 44.↵
    1. Budu-Aggrey A,
    2. Bowes J,
    3. Barton A

    . Identifying a novel locus for psoriatic arthritis. Rheumatology2016;55:25–32.

    OpenUrlCrossRefPubMed
45. 45.↵
    1. Maneiro JR,
    2. Souto A,
    3. Salgado E,
    4. Mera A,
    5. Gomez-Reino JJ

    . Predictors of response to TNF antagonists in patients with ankylosing spondylitis and psoriatic arthritis: systematic review and meta-analysis. RMD Open2015;1:e000017.

    OpenUrlAbstract/FREE Full Text
46. 46.↵
    1. Seitz M,
    2. Wirthmuller U,
    3. Moller B,
    4. Villiger PM

    . The −308 tumour necrosis factor-alpha gene polymorphism predicts therapeutic response to TNFalpha-blockers in rheumatoid arthritis and spondyloarthritis patients. Rheumatology2007;46:93–6.

    OpenUrlCrossRefPubMed
47. 47.↵
    1. O’Rielly DD,
    2. Roslin NM,
    3. Beyene J,
    4. Pope A,
    5. Rahman P

    . TNF-alpha-308 G/A polymorphism and responsiveness to TNF-alpha blockade therapy in moderate to severe rheumatoid arthritis: a systematic review and meta-analysis. Pharmacogenomics J2009;9:161–7.

    OpenUrlCrossRefPubMed
48. 48.↵
    1. Tejasvi T,
    2. Stuart PE,
    3. Chandran V,
    4. Voorhees JJ,
    5. Gladman DD,
    6. Rahman P,
    7. et al.

    TNFAIP3 gene polymorphisms are associated with response to TNF blockade in psoriasis. J Invest Dermatol2012;132:593–600.

    OpenUrlCrossRefPubMed
49. 49.↵
    1. Morales-Lara MJ,
    2. Cañete JD,
    3. Torres-Moreno D,
    4. Hernández MV,
    5. Pedrero F,
    6. Celis R,
    7. et al.

    Effects of polymorphisms in TRAILR1 and TNFR1A on the response to anti-TNF therapies in patients with rheumatoid and psoriatic arthritis. Joint Bone Spine2012;79:591–6.

    OpenUrlCrossRefPubMed
50. 50.↵
    1. Julià A,
    2. Rodríguez J,
    3. Fernández-Sueiro JL,
    4. Gratacós J,
    5. Queiró R,
    6. Montilla C,
    7. et al.

    PDE3A-SLCO1C1 locus is associated with response to anti-tumor necrosis factor therapy in psoriatic arthritis. Pharmacogenomics2014;15:1763–9.

    OpenUrl
51. 51.↵
    1. Jani M,
    2. Barton A,
    3. Ho P

    . Pharmacogenetics of treatment response in psoriatic arthritis. Curr Rheumatol Rep2015;17:44.

    OpenUrl