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

References

1. Lebwohl, M. Psoriasis. Lancet 361, 1197–1204 (2003).
   Article Google Scholar
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).
   Article CAS Google Scholar
3. Krueger, J.G. & Bowcock, A. Psoriasis pathophysiology: current concepts of pathogenesis. Ann. Rheum. Dis. 64 Suppl 2, ii30–ii36 (2005).
   CAS PubMed PubMed Central Google Scholar
4. Lowes, M.A., Bowcock, A.M. & Krueger, J.G. Pathogenesis and therapy of psoriasis. Nature 445, 866–873 (2007).
   Article CAS Google Scholar
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).
   Article CAS Google Scholar
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).
   Article CAS Google Scholar
7. Elder, J.T. PSORS1: linking genetics and immunology. J. Invest. Dermatol. 126, 1205–1206 (2006).
   Article CAS Google Scholar
8. Liu, Y. et al. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet. 4, e1000041 (2008).
   Article Google Scholar
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).
   Article CAS Google Scholar
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).
    Article CAS Google Scholar
11. Hollox, E.J. et al. Psoriasis is associated with increased beta-defensin genomic copy number. Nat. Genet. 40, 23–25 (2008).
    Article CAS Google Scholar
12. Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 444–454 (2006).
    Article CAS Google Scholar
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).
    Article CAS Google Scholar
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).
    Article CAS Google Scholar
15. Korbel, J.O. et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 318, 420–426 (2007).
    Article CAS Google Scholar
16. Kidd, J.M. et al. Mapping and sequencing of structural variation from eight human genomes. Nature 453, 56–64 (2008).
    Article CAS Google Scholar
17. Zhao, X.P. & Elder, J.T. Positional cloning of skin-specific genes from the human epidermal differentiation complex. Genomics 45, 250–258 (1997).
    Article CAS Google Scholar
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).
    Article CAS Google Scholar
20. Nair, R.P. et al. Polymorphisms of the IL12B and IL23R genes are associated with psoriasis. J. Invest. Dermatol. 128, 1653–1661 (2008).
    Article CAS Google Scholar
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).
    Article CAS Google Scholar
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).
    Article CAS Google Scholar
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).
    Article CAS Google Scholar
24. Gonzalez, J.R. et al. Maximizing association statistics over genetic models. Genet. Epidemiol. 32, 246–254 (2008).
    Article Google Scholar
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).
    Article Google Scholar
26. Alkemade, J.A. et al. SKALP/elafin is an inducible proteinase inhibitor in human epidermal keratinocytes. J. Cell Sci. 107, 2335–2342 (1994).
    CAS PubMed Google Scholar

Download references

Acknowledgements

We gratefully acknowledge the participants in the genetic studies whose contributions made this work possible and personnel at the CeGen genotyping core facility (Barcelona node). We thank T. Henseler, S. Jenisch, M. Weichenthal and E. Christophers from the University of Kiel for making samples from Kiel, Germany available for analysis. We thank A. Poon for technical assistance, the University of California San Francisco Psoriasis Center Staff for help with subject recruitment and J. Gartlon for proofreading the manuscript. This work was supported in part by funds from the “Generalitat de Catalunya,” the Spanish Ministry of Science and Innovation and the European Commission ENGAGE Project (X.E., R.d.C., L.A., E.R.-M., G.E. and E.B.), ADIPSO (G.N.) and National Institutes for Arthritis, Musculoskeletal and Skin Diseases (A.B., J.T.E., R.N. and P.E.S.). E.R.-M. is supported by CIBERESP (Carlos III Health Institute). J.T.E. is supported by the Ann Arbor Veterans Affairs Hospital. W.L. is supported by a grant from the Dermatology Foundation.

Author information

Author notes

1. Rafael de Cid
   Present address: Present address: Centre National de Génotypage, 91057 Evry, France.,
2. Rafael de Cid, Eva Riveira-Munoz, Patrick L J M Zeeuwen and Jason Robarge: These authors contributed equally to this work.

Authors and Affiliations

1. Genes and Disease Programme, Centre for Genomic Regulation (CRG) and Public Health and Epidemiology Network Biomedical Research Center (CIBERESP), Barcelona, 08003, Spain
   Rafael de Cid, Eva Riveira-Munoz, Georgia Escaramís, Ester Ballana, Lluís Armengol & Xavier Estivill
2. Department of Dermatology and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6525 Nijmegen, The Netherlands.,
   Patrick L J M Zeeuwen, Marijke Kamsteeg & Joost Schalkwijk
3. Department of Genetics, Washington University School of Medicine, Saint Louis, 63110, Missouri, USA
   Jason Robarge, Cynthia Helms & Anne Bowcock
4. University of California, San Francisco, San Francisco, 94143, California, USA
   Wilson Liao & Pui-Yan Kwok
5. Institute of Genetics and School of Biology, University of Nottingham, Queen's Medical Centre, Nottingham, NG72RD, UK
   Emma N Dannhauser & John A L Armour
6. Department of Biopathology, Tor Vergata University of Rome, Rome, 00133, Italy
   Emiliano Giardina & Giuseppe Novelli
7. Department of Dermatology, University of Michigan, Michigan, 48109, USA
   Philip E Stuart, Rajan Nair & James T Elder
8. Dermatology Service, Hospital del Mar-IMAS, Barcelona, 08003, Spain
   Gemma Martín-Ezquerra & Ramón M Pujol
9. Department of Endocrinology and Department of Epidemiology and Biostatistics, Radboud University Nijmegen Medical Centre, 6525 Nijmegen, The Netherlands.,
   Martin den Heijer
10. Department of Bloodtransfusion and Transplantation Immunology, Radboud University Nijmegen Medical Centre, 6525 Nijmegen, The Netherlands.,
    Irma Joosten
11. Department of Genome Sciences, University of Washington, Seattle, 98195, Washington, USA
    Evan E Eichler
12. Catalan Institute of Cancer, L'Hospitalet de Llobregat, Barcelona, 08907, Spain
    Conxi Lázaro
13. Department of Biostatistics, School of Public Health, University of Michigan, Michigan, 48109, USA
    Gonçalo Abecasis
14. Pompeu Fabra University (UPF), Barcelona, 08003, Spain
    Xavier Estivill

Authors

1. Rafael de Cid
   You can also search for this author inPubMed Google Scholar
2. Eva Riveira-Munoz
   You can also search for this author inPubMed Google Scholar
3. Patrick L J M Zeeuwen
   You can also search for this author inPubMed Google Scholar
4. Jason Robarge
   You can also search for this author inPubMed Google Scholar
5. Wilson Liao
   You can also search for this author inPubMed Google Scholar
6. Emma N Dannhauser
   You can also search for this author inPubMed Google Scholar
7. Emiliano Giardina
   You can also search for this author inPubMed Google Scholar
8. Philip E Stuart
   You can also search for this author inPubMed Google Scholar
9. Rajan Nair
   You can also search for this author inPubMed Google Scholar
10. Cynthia Helms
    You can also search for this author inPubMed Google Scholar
11. Georgia Escaramís
    You can also search for this author inPubMed Google Scholar
12. Ester Ballana
    You can also search for this author inPubMed Google Scholar
13. Gemma Martín-Ezquerra
    You can also search for this author inPubMed Google Scholar
14. Martin den Heijer
    You can also search for this author inPubMed Google Scholar
15. Marijke Kamsteeg
    You can also search for this author inPubMed Google Scholar
16. Irma Joosten
    You can also search for this author inPubMed Google Scholar
17. Evan E Eichler
    You can also search for this author inPubMed Google Scholar
18. Conxi Lázaro
    You can also search for this author inPubMed Google Scholar
19. Ramón M Pujol
    You can also search for this author inPubMed Google Scholar
20. Lluís Armengol
    You can also search for this author inPubMed Google Scholar
21. Gonçalo Abecasis
    You can also search for this author inPubMed Google Scholar
22. James T Elder
    You can also search for this author inPubMed Google Scholar
23. Giuseppe Novelli
    You can also search for this author inPubMed Google Scholar
24. John A L Armour
    You can also search for this author inPubMed Google Scholar
25. Pui-Yan Kwok
    You can also search for this author inPubMed Google Scholar
26. Anne Bowcock
    You can also search for this author inPubMed Google Scholar
27. Joost Schalkwijk
    You can also search for this author inPubMed Google Scholar
28. Xavier Estivill
    You can also search for this author inPubMed Google Scholar

Contributions

R.d.C., E.R.-M., P.L.J.M.Z. and J.R. contributed equally to this work. R.d.C., G.M.-E., R.M.P. and C.L. recruited the subjects from Spain. P.L.J.M.Z., M.K., M.d.H. and J.S. recruited the subjects from The Netherlands. E.G. and G.N. recruited the subjects from Italy. P.-Y.K., A.B., R.N., W.L. and J.T.E. recruited the subjects from the USA. R.d.C., E.R.-M., P.L.J.M.Z., J.R., W.L., E.N.D., E.G., I.J., C.H., E.B., P.E.S. and R.N. performed the genotyping and experimental work. R.d.C., L.A., G.E., G.A., P.E.S., J.S. and X.E. analyzed the data. J.S. was responsible for the design and execution of the expression studies in keratinocytes. X.E., G.N., J.T.E., E.E.E., J.A.L.A., P.K., A.B. and J.S. supervised the work. X.E. designed the study and coordinated the work. All authors contributed to the final version of the paper.

Corresponding author

Correspondence toXavier Estivill.

Supplementary information

Rights and permissions

About this article

Cite this article

de Cid, R., Riveira-Munoz, E., Zeeuwen, P. et al. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis.Nat Genet 41, 211–215 (2009). https://doi.org/10.1038/ng.313

Download citation

• Received: 23 May 2008
• Accepted: 22 December 2008
• Published: 25 January 2009
• Issue Date: February 2009
• DOI: https://doi.org/10.1038/ng.313