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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 möglich sobald Postprint bei der ZB eingereicht worden ist.
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter 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
Zeitschrift Journal of Investigative Dermatology, The
Quellenangaben Band: 130, Heft: 8, Seiten: 2057-2061 Artikelnummer: , Supplement: ,
Verlag Elsevier
Verlagsort New York, NY
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Epidemiology (EPI)