TY - JOUR
T1 - Deletion of late cornified envelope 3B and 3C genes is not associated with atopic dermatitis
AU - Bergboer, Judith G M
AU - Zeeuwen, Patrick L J M
AU - Irvine, Alan D.
AU - Weidinger, Stephan
AU - Giardina, Emiliano
AU - Novelli, Giuseppe
AU - Heijer, Martin Den
AU - Rodriguez, Elke
AU - Illig, Thomas
AU - Riveira-Munoz, Eva
AU - Campbell, Linda E.
AU - Tyson, Jess
AU - Dannhauser, Emma N.
AU - O'Regan, Gráinne M.
AU - Galli, Elena
AU - Klopp, Norman
AU - Koppelman, Gerard H.
AU - Novak, Natalija
AU - Estivill, Xavier
AU - McLean, W. H Irwin
AU - Postma, Dirkje S.
AU - Armour, John A L
AU - Schalkwijk, Joost
PY - 2010/8
Y1 - 2010/8
N2 - 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.
AB - 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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U2 - 10.1038/jid.2010.88
DO - 10.1038/jid.2010.88
M3 - Article
C2 - 20376060
AN - SCOPUS:77954762749
VL - 130
SP - 2057
EP - 2061
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
SN - 0022-202X
IS - 8
ER -