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Bergboer, J.G.M.* ; Zeeuwen, P.L.* ; Irvine, A.D.* ; Weidinger, S.* ; Giardina, E.* ; Novelli, G.* ; den Heijer, M.* ; Rodriguez, E.* ; Illig, T. ; Riveira-Munoz, E.* ; Campbell, L.E.* ; Tyson, J.* ; Dannhauser, E.N.* ; O'Regan, G.M.* ; Galli, E.* ; Klopp, N. ; Koppelman, G.H.* ; Novak, N.* ; Estivill, X.* ; McLean, W.H.* ; Postma, D.S.* ; Armour, J.A.* ; Schalkwijk, J.*

Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.

J. Invest. Dermatol. 130, 2057-2061 (2010)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Atopic dermatitis (AD) and psoriasis are common skin diseases characterized by cutaneous inflammation and disturbed epidermal differentiation. Genome-wide analyses have shown overlapping susceptibility loci, such as the epidermal differentiation complex on chromosome 1q21. Recently, a deletion on 1q21 (LCE3C_LCE3B-del), comprising LCE3B and LCE3C, two members of the late cornified envelope (LCE) gene cluster, was found to be associated with psoriasis. Although the mechanistic role of LCE proteins in psoriasis has not been identified, these proteins are putatively involved in skin barrier formation and repair. Considering the potential genetic overlap between the two diseases and the recent finding that mutations in the skin barrier protein filaggrin are associated with AD, we investigated a possible association between LCE3C_LCE3B-del and AD. Evaluation of four different cohorts of European ancestry, containing a total of 1075 AD patients and 1658 controls, did not provide evidence for such an association. Subgroup analysis did not reveal an association with concomitant asthma. Our data suggest that the potential roles of skin barrier defects in the pathogenesis of AD and psoriasis are based on distinct genetic causes.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords of-function variants; cornified envelope; structural variation; chromosome 1q21; filaggrin gene; human genome; copy number; psoriasis; inhibitor; mutations
ISSN (print) / ISBN 0022-202X
e-ISSN 1523-1747
Journal Journal of Investigative Dermatology, The
Quellenangaben Volume: 130, Issue: 8, Pages: 2057-2061 Article Number: , Supplement: ,
Publisher Elsevier
Publishing Place New York, NY
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)