Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

Nature Genetics

Volumn 41, Issue 2, 2009, Pages 211-215

  De Cid, Rafael ^a,n   Riveira Munoz, Eva ^a   Zeeuwen, Patrick L J M ^b   Robarge, Jason ^c   Liao, Wilson ^d   Dannhauser, Emma N ^e   Giardina, Emiliano ^f   Stuart, Philip E ^g   Nair, Rajan ^g   Helms, Cynthia ^c   Escaramís, Georgia ^a   Ballana, Ester ^a   Martín Ezquerra, Gemma ^h   Heijer, Martin Den ⁱ   Kamsteeg, Marijke ^b   Joosten, Irma ⁱ   Eichler, Evan E ^j   Lázaro, Conxi ^k   Pujol, Ramón M ^h   Armengol, Lluís ^a   Abecasis, Gonçalo ^l   Elder, James T ^g   Novelli, Giuseppe ^f   Armour, John A L ^e   Kwok, Pui Yan ^d   Bowcock, Anne ^c   Schalkwijk, Joost ^b   Estivill, Xavier ^a,m   more..

^a CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^f TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^g UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^h HOSPITAL DEL MAR   (Spain)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^j UNIVERSITY OF WASHINGTON   (United States)

^k Catalan Health Institute   (Spain)

^l UNIVERSITY OF MICHIGAN SCHOOL OF PUBLIC HEALTH   (United States)

^m UNIVERSITAT POMPEU FABRA   (Spain)

ⁿ CENTRE NATIONAL DE GÉNOTYPAGE   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ALLELE; ARTICLE; CONTINGENT NEGATIVE VARIATION; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; EPIDERMIS; FAMILY STUDY; GENE; GENE CLUSTER; GENE DELETION; GENE DISRUPTION; GENE EXPRESSION; GENE INDUCTION; GENETIC EPISTASIS; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOME; HUMAN; HUMAN TISSUE; ITALY; KERATINOCYTE; LCE3B GENE; LCE3C GENE; MAJOR CLINICAL STUDY; NETHERLANDS; PRIORITY JOURNAL; PSORIASIS; SKIN BIOPSY; SPAIN; UNITED STATES;

CASE-CONTROL STUDIES; CORNIFIED ENVELOPE PROLINE-RICH PROTEINS; EPISTASIS, GENETIC; EUROPE; FAMILY; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; GENETICS, POPULATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HLA-C ANTIGENS; HUMANS; LINKAGE DISEQUILIBRIUM; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; PSORIASIS; UNITED STATES;

EID: 59149098800     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.313     Document Type: Article

References (26)

1. Lebwohl, M. Psoriasis. Lancet 361, 1197-1204 (2003).
2. Jackson, B. et al. Late cornified envelope family in differentiating epithelia-response to calcium and ultraviolet irradiation. J. Invest. Dermatol. 124, 1062-1070 (2005).
3. Krueger, J.G. & Bowcock, A. Psoriasis pathophysiology: current concepts of pathogenesis. Ann. Rheum. Dis. 64 Suppl 2, ii30-ii36 (2005).
4. Lowes, M.A., Bowcock, A.M. & Krueger, J.G. Pathogenesis and therapy of psoriasis. Nature 445, 866-873 (2007).
5. Bowcock, A.M. & Cookson, W.O. The genetics of psoriasis, psoriatic arthritis and atopic dermatitis. Hum. Mol. Genet. 13 (Spec. No. 1) R43-R55 (2004).
6. Russell, T.J., Schultes, L.M. & Kuban, D.J. Histocompatibility (HL-A) antigens associated with psoriasis. N. Engl. J. Med. 287, 738-740 (1972).
7. Elder, J.T. PSORS1: linking genetics and immunology. J. Invest. Dermatol. 126, 1205-1206 (2006).
8. Liu, Y. et al. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet. 4, e1000041 (2008).
9. Nair, R.P. et al. Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. Am. J. Hum. Genet. 78, 827-851 (2006).
10. Cargill, 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. 80, 273-290 (2007).
11. Hollox, E.J. et al. Psoriasis is associated with increased beta-defensin genomic copy number. Nat. Genet. 40, 23-25 (2008).
12. Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 444-454 (2006).
13. Estivill, X. & Armengol, L. Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies. PLoS Genet. 3, 1787-1799 (2007).
14. Capon, F. et al. Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1. J. Invest. Dermatol. 112, 32-35 (1999).
15. Korbel, J.O. et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 318, 420-426 (2007).
16. Kidd, J.M. et al. Mapping and sequencing of structural variation from eight human genomes. Nature 453, 56-64 (2008).
17. Zhao, X.P. & Elder, J.T. Positional cloning of skin-specific genes from the human epidermal differentiation complex. Genomics 45, 250-258 (1997).
18. Chen, H. et al. Association of skin barrier genes within the PSORS4 locus is enriched in Singaporean Chinese with early-onset psoriasis. J. Invest. Dermatol. advance online publication, doi:10.1038/jid.2008.273 (11 September 2008).
19. Asumalahti, K. et al. Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. Hum. Mol. Genet. 11, 589-597 (2002).
20. Nair, R.P. et al. Polymorphisms of the IL12B and IL23R genes are associated with psoriasis. J. Invest. Dermatol. 128, 1653-1661 (2008).
21. Capon, F., Semprini, S., Dallapiccola, B. & Novelli, G. Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21. Am. J. Hum. Genet. 65, 1798-1800 (1999).
22. McCarroll, S.A. et al. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat. Genet. 40, 1107-1112 (2008).
23. Aberg, K.M. et al. Co-regulation and interdependence of the mammalian epidermal permeability and antimicrobial barriers. J. Invest. Dermatol. 128, 917-925 (2008).
24. Gonzalez, J.R. et al. Maximizing association statistics over genetic models. Genet. Epidemiol. 32, 246-254 (2008).
25. Cordell, H.J. et al. Case/pseudocontrol analysis in genetic association studies: A unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects. Genet. Epidemiol. 26, 167-185 (2004).
26. Alkemade, J.A. et al. SKALP/elafin is an inducible proteinase inhibitor in human epidermal keratinocytes. J. Cell Sci. 107, 2335-2342 (1994).