Psoriasis risk genes of the late cornified envelope-3 group are distinctly expressed compared with genes of other LCE groups

American Journal of Pathology

Volumn 178, Issue 4, 2011, Pages 1470-1477

  Bergboer, Judith G M ^a   Tjabringa, Geuranne S ^a   Kamsteeg, Marijke ^a   Van Vlijmen Willems, Ivonne M J J ^a   Rodijk Olthuis, Diana ^a   Jansen, Patrick A M ^a   Thuret, Jean Yves ^b,d   Narita, Masashi ^b   Ishida Yamamoto, Akemi ^c   Zeeuwen, Patrick L J M ^a   Schalkwijk, Joost ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^c ASAHIKAWA MEDICAL COLLEGE   (Japan)

^d SERVICE DE CHIMIE BIOORGANIQUE ET DE MARQUAGE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE; ENVELOPE PROTEIN; LATE CORNIFIED ENVELOPE PROTEIN; LATE CORNIFIED ENVELOPE PROTEIN 1; LATE CORNIFIED ENVELOPE PROTEIN 2; LATE CORNIFIED ENVELOPE PROTEIN 3; LATE CORNIFIED ENVELOPE PROTEIN 5; LATE CORNIFIED ENVELOPE PROTEIN 6; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EPIDERMIS; GENE DELETION; GENE EXPRESSION; GRANULAR CELL; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOELECTRON MICROSCOPY; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; IN VIVO STUDY; OROPHARYNX; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN INDUCTION; PSORIASIS; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RECEPTOR DOWN REGULATION; RISK FACTOR; SKIN; SKIN BIOPSY; SKIN DEFECT; SKIN INJURY; STRATUM CORNEUM;

EID: 79953134724     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.1016/j.ajpath.2010.12.017     Document Type: Article

References (27)

1. Bowcock AM, Krueger JG: Getting under the skin: the immunogenetics of psoriasis. Nat Rev Immunol 2005, 5:699-711 (Pubitemid 43090738)
2. Nestle FO, Kaplan DH, Barker J: Psoriasis. N Engl J Med 2009, 361:496-509
3. Schon MP, Boehncke WH: Psoriasis. N Engl J Med 2005, 352:1899-1912 (Pubitemid 40627816)
4. 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 Heijer MD, 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 susceptibility factor for psoriasis. Nat Genet 2009, 41:211-215
5. 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, Han JW, Quan C, Chen B, Liu JL, Lin D, Fan L, Zhang AP, Liu SX, Yang CJ, Wang PG, Zhou WM, Lin GS, Wu WD, Fan X, Gao M, Yang BQ, Lu WS, Zhang Z, Zhu KJ, Shen SK, Li M, Zhang XY, Cao TT, Ren W, Zhang X, He J, Tang XF, Lu S, Yang JQ, Zhang L, Wang DN, Yuan F, Yin XY, Huang HJ, Wang HF, Lin XY, Liu JJ: Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet 2009, 41:205-210
6. Huffmeier U, Bergboer JG, Becker T, Armour JA, Traupe H, Estivill X, Riveira-Munoz E, Mossner R, Reich K, Kurrat W, Wienker TF, Schalkwijk J, Zeeuwen PL, Reis A: Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors. J Invest Dermatol 2010, 130:979-984
7. Riveira-Munoz E, He SM, Escaramis G, Stuart PE, Huffmeier U, Lee C, Kirby B, Oka A, Giardina E, Liao W, Bergboer J, Kainu K, de CR, Munkhbat B, Zeeuwen PL, Armour JA, Poon A, Mabuchi T, Ozawa A, Zawirska A, Burden AD, Barker JN, Capon F, Traupe H, Sun LD, Cui Y, Yin XY, Chen G, Lim HW, Nair RP, Voorhees JJ, Tejasvi T, Pujol R, Munkhtuvshin N, Fischer J, Kere J, Schalkwijk J, Bowcock A, Kwok PY, Novelli G, Inoko H, Ryan AW, Trembath RC, Reis A, Zhang XJ, Elder JT, Estivill X: Meta-analysis confirms the LCE3C-LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol, doi: 10.1038/jid.2010.350.
8. Mischke D, Korge BP, Marenholz I, Volz A, Ziegler A: 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 1996, 106:989-992
9. Jackson B, Tilli CM, Hardman MJ, Avilion AA, MacLeod MC, Ashcroft GS, Byrne C: Late cornified envelope family in differentiating epithelia-response to calcium and ultraviolet irradiation. J Invest Dermatol 2005, 124:1062-1070 (Pubitemid 40629109)
10. Zhao XP, Elder JT: Positional cloning of novel skin-specific genes from the human epidermal differentiation complex. Genomics 1997, 45:250-258 (Pubitemid 27467613)
11. Marshall D, Hardman MJ, Nield KM, Byrne C: Differentially expressed late constituents of the epidermal cornified envelope. Proc Natl Acad Sci USA 2001, 98:13031-13036 (Pubitemid 33051312)
12. Tjabringa G, Bergers M, van Rens D, de Boer R, Lamme E, Schalkwijk J: Development and validation of human psoriatic skin equivalents. Am J Pathol 2008, 173:815-823
13. van Ruissen F, Jansen BJ, de Jongh GJ, Zeeuwen PL, Schalkwijk J: A partial transcriptome of human epidermis. Genomics 2002, 79:671-678 (Pubitemid 34499482)
14. de Jongh GJ, Zeeuwen PL, Kucharekova M, Pfundt R, van der Valk PG, Blokx W, Dogan A, Hiemstra PS, van de Kerkhof PC, Schalkwijk J: High expression levels of keratinocyte antimicrobial proteins in psoriasis compared with atopic dermatitis. J Invest Dermatol 2005, 125:1163-1173
15. Franssen ME, Zeeuwen PL, Vierwinden G, van de Kerkhof PC, Schalkwijk J, van Erp PE: Phenotypical and functional differences in germinative subpopulations derived from normal and psoriatic epidermis. J Invest Dermatol 2005, 124:373-383 (Pubitemid 40175885)
16. Livak KJ, Schmittgen TD: Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001, 25:402-408 (Pubitemid 34164012)
17. Le M, Schalkwijk J, Siegenthaler G, van de Kerkhof PC, Veerkamp JH, van der Valk PG: Changes in keratinocyte differentiation following mild irritation by sodium dodecylsulphate. Arch Dermatol Res 1996, 288:684-690 (Pubitemid 26377464)
18. Zeeuwen PL, Ishida-Yamamoto A, van Vlijmen-Willems IM, Cheng T, Bergers M, Iizuka H, Schalkwijk J: Colocalization of cystatin M/E and cathepsin V in lamellar granules and corneodesmosomes suggests a functional role in epidermal differentiation. J Invest Dermatol 2007, 127:120-128 (Pubitemid 46005669)
19. Ishida-Yamamoto A, Simon M, Kishibe M, Miyauchi Y, Takahashi H, Yoshida S, O'Brien TJ, Serre G, Iizuka H: Epidermal lamellar granules transport different cargoes as distinct aggregates. J Invest Dermatol 2004, 122:1137-1144 (Pubitemid 38651088)
20. Guttman-Yassky E, Suarez-Farinas M, Chiricozzi A, Nograles KE, Shemer A, Fuentes-Duculan J, Cardinale I, Lin P, Bergman R, Bowcock AM, Krueger JG: Broad defects in epidermal cornification in atopic dermatitis identified through genomic analysis. J Allergy Clin Immunol 2009, 124:1235-1244
21. Van Duijnhoven-Avontuur WM, Alkemade JA, Schalkwijk J, Mier PD, van der Valk PG: The inflammatory and proliferative response of normal skin in a model for acute chemical injury: ornithine decarboxylase induction as a common feature in various models for acute skin injury. Br J Dermatol 1994, 130:725-730 (Pubitemid 24218663)
22. Cheng T, Tjabringa GS, van Vlijmen-Willems IM, Hitomi K, van Erp PE, Schalkwijk J, Zeeuwen PL: The cystatin M/E-controlled pathway of skin barrier formation: expression of its key components in psoriasis and atopic dermatitis. Br J Dermatol 2009, 161:253-264
23. Ishida-Yamamoto A, Eady RA, Watt FM, Roop DR, Hohl D, Iizuka H: Immunoelectron microscopic analysis of cornified cell envelope formation in normal and psoriatic epidermis. J Histochem Cytochem 1996, 44:167-175 (Pubitemid 26054006)
24. Cheng T, van Vlijmen-Willems IM, Hitomi K, Pasch MC, van Erp PE, Schalkwijk J, Zeeuwen PL: Colocalization of cystatin M/E and its target proteases suggests a role in terminal differentiation of human hair follicle and nail. J Invest Dermatol 2009, 129:1232-1242
25. 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
26. Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O'Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El HB, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH: Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006, 38:441-446
27. Cork MJ, Danby SG, Vasilopoulos Y, Hadgraft J, Lane ME, Moustafa M, Guy RH, Macgowan AL, Tazi-Ahnini R, Ward SJ: Epidermal barrier dysfunction in atopic dermatitis. J Invest Dermatol 2009, 129:1892-1908