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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-02

AUTHORS

Rafael de Cid, Eva Riveira-Munoz, Patrick L J M Zeeuwen, Jason Robarge, Wilson Liao, Emma N Dannhauser, Emiliano Giardina, Philip E Stuart, Rajan Nair, Cynthia Helms, Georgia Escaramís, Ester Ballana, Gemma Martín-Ezquerra, Martin den Heijer, Marijke Kamsteeg, Irma Joosten, Evan E Eichler, Conxi Lázaro, Ramón M Pujol, Lluís Armengol, Gonçalo Abecasis, James T Elder, Giuseppe Novelli, John A L Armour, Pui-Yan Kwok, Anne Bowcock, Joost Schalkwijk, Xavier Estivill

ABSTRACT

Psoriasis is a common inflammatory skin disease with a prevalence of 2-3% in individuals of European ancestry. In a genome-wide search for copy number variants (CNV) using a sample pooling approach, we have identified a deletion comprising LCE3B and LCE3C, members of the late cornified envelope (LCE) gene cluster. The absence of LCE3B and LCE3C (LCE3C_LCE3B-del) is significantly associated (P = 1.38E-08) with risk of psoriasis in 2,831 samples from Spain, The Netherlands, Italy and the United States, and in a family-based study (P = 5.4E-04). LCE3C_LCE3B-del is tagged by rs4112788 (r(2) = 0.93), which is also strongly associated with psoriasis (P < 6.6E-09). LCE3C_LCE3B-del shows epistatic effects with the HLA-Cw6 allele on the development of psoriasis in Dutch samples and multiplicative effects in the other samples. LCE expression can be induced in normal epidermis by skin barrier disruption and is strongly expressed in psoriatic lesions, suggesting that compromised skin barrier function has a role in psoriasis susceptibility. More... »

PAGES

211-215

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.313

DOI

http://dx.doi.org/10.1038/ng.313

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1027003333

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19169253


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