An association study of 22 candidate genes in psoriasis families reveals shared genetic factors with other autoimmune and skin disorders

Journal of Investigative Dermatology

Volumn 129, Issue 11, 2009, Pages 2637-2645

  Oudot, Tiphaine ^a   Lesueur, Fabienne ^a,b   Guedj, Mickaël ^c   De Cid, Rafael ^a   McGinn, Steven ^a   Heath, Simon ^a   Foglio, Mario ^a   Prum, Bernard ^c   Lathrop, Mark ^a   Prud'Homme, Jean François ^d   Fischer, Judith ^a  

^a DIF   (France)

^b INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^c UNIVERSITÉ D EVRY VAL D ESSONNE   (France)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN RECEPTOR;

ALLELE; ARTICLE; AUTOIMMUNE SKIN DISEASE; BLOOD SAMPLING; CARD15 GENE; CELL DIFFERENTIATION; CONTROLLED STUDY; CYLD GENE; DISEASE PREDISPOSITION; DNA EXTRACTION; EPIDERMIS; FLG GENE; GENE; GENE INTERACTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HEREDITY; HIGH RISK POPULATION; HLA CW6 GENE; HUMAN; IL1RN GENE; LEUKOCYTE; MAJOR CLINICAL STUDY; MODULATION; NUCLEAR FAMILY; PEDIGREE; PRIORITY JOURNAL; PSORIASIS; RISK ASSESSMENT; SCL12A8 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN DISEASE; TGM5 GENE;

AUTOIMMUNE DISEASES; CARRIER PROTEINS; DATABASES, GENETIC; FAMILY HEALTH; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HLA-C ANTIGENS; HUMANS; LOGISTIC MODELS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PSORIASIS; RECEPTORS, GROWTH FACTOR; TRANSCRIPTION FACTORS;

EID: 70350041892     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2009.157     Document Type: Article

References (77)

1. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101
2. Asumalahti K, Veal C, Laitinen T, Suomela S, Allen M, Elomaa O et al. (2002) Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. Hum Mol Genet 11:589-597
3. Balding J, Kane D, Livingstone W, Mynett-Johnson L, Bresnihan B, Smith O et al. (2003) Cytokine gene polymorphisms: association with psoriatic arthritis susceptibility and severity. Arthritis Rheum 48:1408-1413
4. Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R et al. (2000) Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet 25:160-165
5. Borgiani P, Vallo L, D0Apice MR, Giardina E, Pucci S, Capon F et al. (2002) Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population. Eur J Dermatol 12:540-542
6. Bowcock AM, Cookson WO (2004) The genetics of psoriasis, psoriatic arthritis and atopic dermatitis. Hum Mol Genet 13:Spec No 1:R43-55
7. Bowcock AM (2005) The genetics of psoriasis and autoimmunity. Annu Rev Genomics Hum Genet 6:93-122
8. Capon F, Allen MH, Ameen M, Burden AD, Tillman D, Barker JN et al. (2004) A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups. Hum Mol Genet 13:2361-2368
9. Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM et al. (2005) A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet 77:909-917
10. 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
11. Cookson WO, Ubhi B, Lawrence R, Abecasis GR, Walley AJ, Cox HE et al. (2001) Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nat Genet 27:372-373
12. de Bakker PI, Yelensky R, Pe0er I, Gabriel SB, Daly MJ, Altshuler D (2005) Efficiency and power in genetic association studies. Nat Genet 37:1217-1223
13. Elder JT (2006) PSORS1: linking genetics and immunology. J Invest Dermatol 126:1205-1206
14. Enlund F, Samuelsson L, Enerback C, Inerot A, Wahlstrom J, Yhr M et al. (1999a) Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden. Eur J Hum Genet 7: 783-790
15. 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 122:1106-1107
16. Giardina E, Sinibaldi C, Chini L, Moschese V, Marulli G, Provini A et al. (2006) Co-localization of susceptibility loci for psoriasis (PSORS4) and atopic dermatitis (ATOD2) on human chromosome 1q21. Hum Hered 61:229-236
17. Gladman DD (1994) Natural history of psoriatic arthritis. Baillieres Clin Rheumatol 8:379-394
18. Griffiths CEM, Camp RDR, Barker JNWN (2004) Psoriasis. In: Rook's textbook of dermatology (Burns T, Breathnach S, Cox C, Griffiths C, eds). Oxford: Blackwell Scientific Publishing Vol. 35:31-69
19. Gottlieb AB, Krueger JG, Khandke L, Grossman RM, Krane J, Carter DM (1991) Role of T cell activation in the pathogenesis of psoriasis. Ann NY Acad Sci 636:377-379
20. Gudjonsson JE, Johnston A, Dyson M, Valdimarsson H, Elder JT (2007) Mouse models of psoriasis. J Invest Dermatol 127:1292-1308
21. Hasegawa K, Martin F, Huang G, Tumas D, Diehl L, Chan AC (2004) PEST domain-enriched tyrosine phosphatase (PEP) regulation of effector/ memory T cells. Science 303:685-689
22. Helms C, Cao L, Krueger JG, Wijsman EM, Chamian F, Gordon D et al. (2003) A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet 35:349-356
23. Hewett D, Samuelsson L, Polding J, Enlund F, Smart D, Cantone K et al. (2002) Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map. Genomics 79:305-314
24. Huffmeier U, Lascorz J, Traupe H, Bohm B, Schurmeier-Horst F, Stander M et al. (2005) Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris. J Invest Dermatol 125:906-912
25. Huffmeier U, Steffens M, Burkhardt H, Lascorz J, Schurmeier-Horst F, Stander M et al. (2006) Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients. J Med Genet 43:517-522
26. Huffmeier U, Traupe H, Oji V, Lascorz J, Stander M, Lohmann J et al. (2007) Loss-of-function variants of the filaggrin gene are not major susceptibility factors for psoriasis vulgaris or psoriatic arthritis in German patients. J Invest Dermatol 127:1367-1370
27. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J et al. (2001) Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411:599-603
28. 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 52:3596-3602
29. 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 297:409-411
30. Karason A, Gudjonsson JE, Upmanyu R, Antonsdottir AA, Hauksson VB, Runasdottir EH et al. (2003) A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting. Am J Hum Genet 72:125-131
31. Laird NM, Horvath S, Xu X (2000) Implementing a unified approach to family-based tests of association. Genet Epidemiol 19 (Suppl 1):S36-42
32. Lange C, Laird NM (2002) Power calculations for a general class of family-based association tests: dichotomous traits. Am J Hum Genet 71:575-584 (Pubitemid 34970128)
33. 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 64:951-954
34. Lazzeroni LC, Lange K (1998) A conditional inference framework for extending the transmission/disequilibrium test. Hum Hered 48:67-81
35. Lee FI, Bellary SV, Francis C (1990) Increased occurrence of psoriasis in patients with Crohn0s disease and their relatives. Am J Gastroenterol 85:962-963
36. Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK et al. (2007) The PTPN22 C1858T functional polymorphism and autoimmune diseases-a meta-analysis. Rheumatology (Oxford) 46:49-56
37. Lesueur F, Lefevre C, Has C, Guilloud-Bataille M, Oudot T, Mahe E et al. (2007a) Confirmation of psoriasis susceptibility loci on chromosome 6p21 and 20p13 in French families. J Invest Dermatol 127:1403-1409
38. Lesueur F, Oudot T, Heath S, Foglio M, Lathrop M, Prud'homme JF et al. (2007b) ADAM33, a new candidate for psoriasis susceptibility. PLoS ONE 2:e906
39. Mahe E, Lahfa M, Mansouri S, Mosharraf-Olmolk H, Le Rebours J, Prud'Homme JF et al. (2002) Physicians' response to a letter to confirm diagnosis in a genetic study of psoriasis. Eur J Dermatol 12:66-69
40. Menter A (1998) Pathogenesis and genetics of psoriasis. Cutis 61:8-10
41. 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 6:1349-1356
42. 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 117:1671-1672
43. 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 78:827-851
44. Natl. Psoriasis Found. Bull (2002) Psoriatic arthritis more common than suspected. 33:6
45. Nevitt GJ, Hutchinson PE (1996) Psoriasis in the community: prevalence, severity and patients0 beliefs and attitudes towards the disease. Br J Dermatol 135:533-537
46. Newman DL, Abney M, McPeek MS, Ober C, Cox NJ (2001) The importance of genealogy in determining genetic associations with complex traits. Am J Hum Genet 69:1146-1148
47. Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R et al. (2001) A frameshift mutation in NOD2 associated with susceptibility to Crohn0 s disease. Nature 411:603-606
48. Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP et al. (2006) Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 38:441-446
49. Peddle L, Butt C, Snelgrove T, Rahman P (2005) Interleukin (IL) 1alpha, IL1beta, IL receptor antagonist, and IL10 polymorphisms in psoriatic arthritis. Ann Rheum Dis 64:1093-1094
50. Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X et al. (2004) Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet 36:471-475
51. Plant D, Lear J, Marsland A, Worthington J, Griffiths CE (2004) CARD15/ NOD2 single nucleotide polymorphisms do not confer susceptibility to type I psoriasis. Br J Dermatol 151:675-678
52. Prinz JC (2003) The role of T cells in psoriasis. J Eur Acad Dermatol Venereol 17:257-270
53. 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 50:211-223
54. 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 73:677-681
55. Ravindran JS, Owen P, Lagan A, Lewis J, Korendowych E, Welsh K et al. (2004) Interleukin 1alpha, interleukin 1beta and interleukin 1 receptor gene polymorphisms in psoriatic arthritis. Rheumatology (Oxford) 43:22-26
56. Reich K, Mossner R, Konig IR, Westphal G, Ziegler A, Neumann C (2002) Promoter polymorphisms of the genes encoding tumor necrosis factor-alpha and interleukin-1beta are associated with different subtypes of psoriasis characterized by early and late disease onset. J Invest Dermatol 118:155-163
57. Reiley WW, Jin W, Lee AJ, Wright A, Wu X, Tewalt EF et al. (2007) Deubiquitinating enzyme CYLD negatively regulates the ubiquitin-dependent kinase Tak1 and prevents abnormal T cell responses. J Exp Med 204:1475-1485
58. Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG et al. (1995) Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9:279-283
59. Sandilands A, O0Regan GM, Liao H, Zhao Y, Terron-Kwiatkowski A, Watson RM et al. (2006) Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol 126:1770-1775
60. Sano S, Chan KS, Carbajal S, Clifford J, Peavey M, Kiguchi K et al. (2005) Stat3 links activated keratinocytes and immunocytes required for development of psoriasis in a novel transgenic mouse model. Nat Med 11:43-49
61. Shepherd J, Little MC, Nicklin MJ (2004) Psoriasis-like cutaneous inflammation in mice lacking interleukin-1 receptor antagonist. J Invest Dermatol 122:665-669
62. Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y et al. (2006) Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 38:337-342
63. Speckman RA, Wright Daw JA, Helms C, Duan S, Cao L, Taillon-Miller P et al. (2003) Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility. Hum Genet 112:34-41
64. Spielman RS, McGinnis RE, Ewens WJ (1993) Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516
65. Takahashi N, Akahoshi M, Matsuda A, Ebe K, Inomata N, Obara K et al. (2005) Association of the IL12RB1 promoter polymorphisms with increased risk of atopic dermatitis and other allergic phenotypes. Hum Mol Genet 14:3149-3159
66. Tarlow JK, Cork MJ, Clay FE, Schmitt-Egenolf M, Crane AM, Stierle C et al. (1997) Association between interleukin-1 receptor antagonist (IL-1ra) gene polymorphism and early and late-onset psoriasis. Br J Dermatol 136:147-148
67. The International Psoriasis Genetics Study (2003) assessing linkage to 14 candidate susceptibility loci in a cohort of 942 affected sib pairs. Am J Hum Genet 73:430-437
68. Thornton T, McPeek MS (2007) Case-control association testing with related individuals: a more powerful quasi-likelihood score test. Am J Hum Genet 81:321-337
69. Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T et al. (2003) An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet 35:341-348
70. Trembath RC, Clough RL, Rosbotham JL, Jones AB, Camp RD, Frodsham A et al. (1997) 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 6:813-820
71. Wigginton JE, Abecasis GR (2005) PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 21:3445-3447
72. Xu H, Shete S (2007) Mixed-effects logistic approach for association following linkage scan for complex disorders. Ann Hum Genet 71:230-237
73. Yamada R, Yamamoto K (2005) Recent findings on genes associated with inflammatory disease. Mutat Res 573:136-151
74. Yates VM, Watkinson G, Kelman A (1982) Further evidence for an association between psoriasis, Crohn0s disease and ulcerative colitis. Br J Dermatol 106:323-330
75. Young C, Allen MH, Cuthbert A, Ameen M, Veal C, Leman J et al. (2003) A Crohn's disease-associated insertion polymorphism (3020insC) in the NOD2 gene is not associated with psoriasis vulgaris, palmo-plantar pustular psoriasis or guttate psoriasis. Exp Dermatol 12:506-509
76. Zenz R, Eferl R, Kenner L, Florin L, Hummerich L, Mehic D et al. (2005) Psoriasis-like skin disease and arthritis caused by inducible epidermal deletion of Jun proteins. Nature 437:369-375
77. Zhao Y, Terron-Kwiatkowski A, Liao H, Lee SP, Allen MH, Hull PR et al. (2007) Filaggrin null alleles are not associated with psoriasis. J Invest Dermatol 127:1878-1882