Association of skin barrier genes within the PSORS4 locus is enriched in Singaporean Chinese with early-onset psoriasis

Journal of Investigative Dermatology

Volumn 129, Issue 3, 2009, Pages 606-614

  Chen, Huijia ^a,b   Toh, Terry K L ^c   Szeverenyi, Ildiko ^b   Ong, Rick T H ^c   Theng, Colin T S ^d   McLean, W H Irwin ^b   Seielstad, Mark ^c   Lane, E Birgitte ^a  

^a INSTITUTE OF MEDICAL BIOLOGY   (Singapore)

^b Medical Sciences Institute   (United Kingdom)

^c GENOME INSTITUTE OF SINGAPORE   (Singapore)

^d NATIONAL SKIN CENTRE   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

INVOLUCRIN; PROLINE;

ARTICLE; CHINESE; CHROMOSOME 1; CONTROLLED STUDY; GENE IDENTIFICATION; GENE INTERACTION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; PSORIASIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGE OF ONSET; CHINA; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PSORIASIS; SINGAPORE; SKIN;

EID: 59949093989     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2008.273     Document Type: Article

References (68)

1. Albanesi C, De Pita O, Girolomoni G (2007) Resident skin cells in psoriasis: a special look at the pathogenetic functions of keratinocytes. Clin Dermatol 25:581-8
2. Asumalahti K, Laitinen T, Lahermo P, Suomela S, Itkonen-Vatjus R, Jansen C et al. (2003) Psoriasis susceptibility locus on 18p revealed by genome scan in Finnish families not associated with PSORS1. J Invest Dermatol 121:735-40
3. Barker JN (1998) Pathogenesis of psoriasis. J Dermatol 25:778-81
4. Barker JN, Palmer CN, Zhao Y, Liao H, Hull PR, Lee SP et al. (2007) Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. J Invest Dermatol 127:564-7
5. Bhalerao J, Bowcock AM (1998) The genetics of psoriasis: a complex disorder of the skin and immune system. Hum Mol Genet 7:1537-45
6. Bowcock AM (2005) The genetics of psoriasis and autoimmunity. Annu Rev Genomics Hum Genet 6:93-122
7. Bowcock AM, Cookson WO (2004) The genetics of psoriasis, psoriatic arthritis and atopic dermatitis. Hum Mol Genet 13 Spec No 1 R43-55
8. Capon F, Bijlmakers MJ, Wolf N, Quaranta M, Huffmeier U, Allen M et al. (2008) Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene. Hum Mol Genet 17:1938-45
9. Capon F, Dallapiccola B, Novelli G (2000) Advances in the search for psoriasis susceptibility genes. Mol Genet Metab 71:250-5
10. Capon F, Novelli G, Semprini S, Clementi M, Nudo M, Vultaggio P et al. (1999) Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1. J Invest Dermatol 112:32-5
11. Capon F, Semprini S, Chimenti S, Fabrizi G, Zambruno G, Murgia S et al. (2001) Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21. J Invest Dermatol 116:728-30
12. Capon F, Trembath RC, Barker JN (2004) An update on the genetics of psoriasis. Dermatol Clin 22:339-47, vii
13. Contzler R, Favre B, Huber M, Hohl D (2005) Cornulin, a new member of the "fused gene" family, is expressed during epidermal differentiation. J Invest Dermatol 124:990-7
14. Crish JF, Bone F, Banks EB, Eckert RL (2002) The human involucrin gene contains spatially distinct regulatory elements that regulate expression during early versus late epidermal differentiation. Oncogene 21:738-47
15. Crish JF, Gopalakrishnan R, Bone F, Gilliam AC, Eckert RL (2006) The distal and proximal regulatory regions of the involucrin gene promoter have distinct functions and are required for in vivo involucrin expression. J Invest Dermatol 126:305-14
16. Eckert RL, Broome AM, Ruse M, Robinson N, Ryan D, Lee K (2004) S100 proteins in the epidermis. J Invest Dermatol 123:23-33
17. Elder JT, Nair RP, Guo SW, Henseler T, Christophers E, Voorhees JJ (1994a) The genetics of psoriasis. Arch Dermatol 130:216-24
18. Elder JT, Nair RP, Voorhees JJ (1994b) Epidemiology and the genetics of psoriasis. J Invest Dermatol 102:24S-7S
19. Enlund F, Samuelsson L, Enerback C, Inerot A, Wahlstrom J, Yhr M et al. (1999a) Analysis of three suggested psoriasis susceptibility loci in a large Swedish set of families: confirmation of linkage to chromosome 6p (HLA region), and to 17q, but not to 4q. Hum Hered 49:2-8
20. Enlund F, Samuelsson L, Enerback C, Inerot A, Wahlstrom J, Yhr M et al. (1999b) Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden. Eur J Hum Genet 7:783-90
21. Fan X, Yang S, Huang W, Wang ZM, Sun LD, Liang YH et al. (2008) Fine mapping of the psoriasis susceptibility locus PSORS1 supports HLA-C as the susceptibility gene in the Han Chinese population. PLoS Genet 4:e1000038
22. Fry L, Baker BS (2007) Triggering psoriasis: the role of infections and medications. Clin Dermatol 25:606-15
23. Ghoreschi K, Weigert C, Rocken M (2007) Immunopathogenesis and role of T cells in psoriasis. Clin Dermatol 25:574-80
24. Giardina E, Capon F, De Rosa MC, Mango R, Zambruno G, Orecchia A et al. (2004) Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus. Ann Hum Genet 68:639-45
25. 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
26. Hoffjan S, Stemmler S (2007) On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis. Br J Dermatol 157:441-9
27. Hoffmann HJ, Olsen E, Etzerodt M, Madsen P, Thogersen HC, Kruse T et al. (1994) Psoriasin binds calcium and is upregulated by calcium to levels that resemble those observed in normal skin. J Invest Dermatol 103:370-5
28. Huber M, Siegenthaler G, Mirancea N, Marenholz I, Nizetic D, Breitkreutz D et al. (2005) Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex. J Invest Dermatol 124:998-1007
29. Iizuka H, Takahashi H, Honma M, Ishida-Yamamoto A (2004) Unique keratinization process in psoriasis: late differentiation markers are abolished because of the premature cell death. J Dermatol 31:271-6
30. International Psoriasis Genetics Consortium (2003) The International Psoriasis Genetics Study: assessing linkage to 14 candidate susceptibility loci in a cohort of 942 affected sib pairs. Am J Hum Genet 73:430-7
31. Irvine A, McLean W (2006) Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis. J Invest Dermatol 126:1200-2
32. Ishida-Yamamoto A, Iizuka H (1995) Differences in involucrin immunolabeling within cornified cell envelopes in normal and psoriatic epidermis. J Invest Dermatol 104:391-5
33. Kligman D, Hilt DC (1988) The S100 protein family. Trends Biochem Sci 13:437-43
34. Krieg P, Schuppler M, Koesters R, Mincheva A, Lichter P, Marks F (1997) Repetin (Rptn), a new member of the "fused gene" subgroup within the S100 gene family encoding a murine epidermal differentiation protein. Genomics 43:339-48
35. Krueger GG, Duvic M (1994) Epidemiology of psoriasis: clinical issues. J Invest Dermatol 102:14S-8S
36. Lee YA, Ruschendorf F, Windemuth C, Schmitt-Egenolf M, Stadelmann A, Nurnberg G et al. (2000) Genomewide scan in german families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13. Am J Hum Genet 67:1020-4
37. Leigh IM, Pulford KA, Ramaekers FC, Lane EB (1985) Psoriasis: maintenance of an intact monolayer basal cell differentiation compartment in spite of hyperproliferation. Br J Dermatol 113:53-64
38. 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 127:1403-9
39. Lesueur F, Oudot T, Heath S, Foglio M, Lathrop M, Prud0homme J et al. (2007b) ADAM33, a new candidate for psoriasis susceptibility. PLoS ONE 2:e906
40. Liu Y, Helms C, Liao W, Zaba LC, Duan S, Gardner J et al. (2008) A genomewide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet 4:e1000041
41. Makino T, Takaishi M, Morohashi M, Huh NH (2001) Hornerin, a novel profilaggrin-like protein and differentiation-specific marker isolated from mouse skin. J Biol Chem 276:47445-52
42. Matthews D, Fry L, Powles A, Weber J, McCarthy M, Fisher E et al. (1996) Evidence that a locus for familial psoriasis maps to chromosome 4q. Nat Genet 14:231-3
43. Mischke D, Korge BP, Marenholz I, Volz A, Ziegler A (1996) Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21. J Invest Dermatol 106:989-92
44. 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
45. Nevitt GJ, Hutchinson PE (1996) Psoriasis in the community: prevalence, severity and patients0 beliefs and attitudes towards the disease. Br J Dermatol 135:533-7
46. Nickoloff BJ, Xin H, Nestle FO, Qin JZ (2007) The cytokine and chemokine network in psoriasis. Clin Dermatol 25:568-73
47. 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 38:441-6
48. Pena-Penabad C, de Unamuno P, Garcia Silva J, Ludena MD, Gonzalez Sarmiento R, Perez-Arellano JL (1999) Altered expression of immunoreactive involucrin in lamellar ichthyosis. Eur J Dermatol 9:197-201
49. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38:904-9
50. Sagoo GS, Tazi-Ahnini R, Barker JW, Elder JT, Nair RP, Samuelsson L et al. (2004) Meta-analysis of genome-wide studies of psoriasis susceptibility reveals linkage to chromosomes 6p21 and 4q28-q31 in Caucasian and Chinese Hans population. J Invest Dermatol 122:1401-5
51. Saintigny G, Schmidt R, Shroot B, Juhlin L, Reichert U, Michel S (1992) Differential expression of calgranulin A and B in various epithelial cell lines and reconstructed epidermis. J Invest Dermatol 99:639-44
52. Sandilands A, Terron-Kwiatkowski A, Hull P, O0regan G, Clayton T, Watson R et al. (2007) Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 39:650-4
53. Schon MP, Boehncke WH (2005) Psoriasis. N Engl J Med 352:1899-912
54. Shao CG (1996) The prevalence, prevention and treatment of psoriasis in China. Chin J Dermatol 29:75-6
55. Sharma M, Mehla K, Batra J, Ghosh B (2007) Association of a chromosome 1q21 locus in close proximity to a late cornified envelope-like proline-rich 1 (LELP1) gene with total serum IgE levels. J Hum Genet 52:378-83
56. 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 38:337-42
57. Sun C, Mathur P, Dupuis J, Tizard R, Ticho B, Crowell T et al. (2006) Peptidoglycan recognition proteins Pglyrp3 and Pglyrp4 are encoded from the epidermal differentiation complex and are candidate genes for the Psors4 locus on chromosome 1q21. Hum Genet 119:113-25
58. Sun LD, Li W, Yang S, Fan X, Yan KL, Liang YH et al. (2007) Evidence for a novel psoriasis susceptibility locus at 9q33-9q34 in Chinese Hans. J Invest Dermatol 127:1140-4
59. Sun LD, Yang S, Liu JJ, Ren YQ, Fan X, Xu SX et al. (2008) Follow-up analysis of 180 Chinese Han families: identification of a novel locus for psoriasis at 2p22.3-11.2. Br J Dermatol 158:512-7
60. Takaishi M, Makino T, Morohashi M, Huh NH (2005) Identification of human hornerin and its expression in regenerating and psoriatic skin. J Biol Chem 280:4696-703
61. Tiilikainen A, Lassus A, Karvonen J, Vartiainen P, Julin M (1980) Psoriasis and HLA-Cw6. Br J Dermatol 102:179-84
62. Tomfohrde J, Silverman A, Barnes R, Fernandez-Vina MA, Young M, Lory D et al. (1994) Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. Science 264:1141-5
63. 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 6:813-20
64. Tschachler E (2007) Psoriasis: the epidermal component. Clin Dermatol 25:589-95
65. Veal CD, Clough RL, Barber RC, Mason S, Tillman D, Ferry B et al. (2001) Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci. J Med Genet 38:7-13
66. Wigginton JE, Cutler DJ, Abecasis GR (2005) A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet 76:887-93
67. Zhang X, He P, Wang Z, Zhang J, Li Y, Wang H et al. (2002) Evidence for a major psoriasis susceptibility locus at 6p21(PSORS1) and a novel candidate region at 4q31 by genome-wide scan in Chinese hans. J Invest Dermatol 119:1361-6
68. 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 127:1878-82