Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.
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.
Bergboer
Judith G M
JG
Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Zeeuwen
Patrick L J M
PL
Irvine
Alan D
AD
Weidinger
Stephan
S
Giardina
Emiliano
E
Novelli
Giuseppe
G
Den Heijer
Martin
M
Rodriguez
Elke
E
Illig
Thomas
T
Riveira-Munoz
Eva
E
Campbell
Linda E
LE
Tyson
Jess
J
Dannhauser
Emma N
EN
O'Regan
Gráinne M
GM
Galli
Elena
E
Klopp
Norman
N
Koppelman
Gerard H
GH
Novak
Natalija
N
Estivill
Xavier
X
McLean
W H Irwin
WH
Postma
Dirkje S
DS
Armour
John A L
JA
Schalkwijk
Joost
J
D000328:Adult; D000368:Aged; D001249:Asthma / Q000208:ethnology / Q000235:genetics; D016022:Case-Control Studies; D015331:Cohort Studies; D055233:Cornified Envelope Proline-Rich Proteins / Q000235:genetics*; D003876:Dermatitis, Atopic / Q000208:ethnology* / Q000235:genetics*; D005060:Europe / Q000453:epidemiology; D005260:Female; D000091344:Filaggrin Proteins; D017353:Gene Deletion; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D044465:White People / Q000235:genetics*
D055233:Cornified Envelope Proline-Rich Proteins; C000717249:FLG protein, human; D000091344:Filaggrin Proteins; C549748:LCE3B protein, human; C524768:LCE3C protein, human; D007073:Immunoglobulin E