title: Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.
abstract: 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.
authors.affiliation: Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Judith G M
authors.initials: JG
authors.lastname: Bergboer
authors.forename: Patrick L J M
authors.initials: PL
authors.lastname: Zeeuwen
authors.forename: Alan D
authors.initials: AD
authors.lastname: Irvine
authors.forename: Stephan
authors.initials: S
authors.lastname: Weidinger
authors.forename: Emiliano
authors.initials: E
authors.lastname: Giardina
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.forename: Martin
authors.initials: M
authors.lastname: Den Heijer
authors.forename: Elke
authors.initials: E
authors.lastname: Rodriguez
authors.forename: Thomas
authors.initials: T
authors.lastname: Illig
authors.forename: Eva
authors.initials: E
authors.lastname: Riveira-Munoz
authors.forename: Linda E
authors.initials: LE
authors.lastname: Campbell
authors.forename: Jess
authors.initials: J
authors.lastname: Tyson
authors.forename: Emma N
authors.initials: EN
authors.lastname: Dannhauser
authors.forename: Gráinne M
authors.initials: GM
authors.lastname: O'Regan
authors.forename: Elena
authors.initials: E
authors.lastname: Galli
authors.forename: Norman
authors.initials: N
authors.lastname: Klopp
authors.forename: Gerard H
authors.initials: GH
authors.lastname: Koppelman
authors.forename: Natalija
authors.initials: N
authors.lastname: Novak
authors.forename: Xavier
authors.initials: X
authors.lastname: Estivill
authors.forename: W H Irwin
authors.initials: WH
authors.lastname: McLean
authors.forename: Dirkje S
authors.initials: DS
authors.lastname: Postma
authors.forename: John A L
authors.initials: JA
authors.lastname: Armour
authors.forename: Joost
authors.initials: J
authors.lastname: Schalkwijk
mesh_terms: 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*
chemical_list: D055233:Cornified Envelope Proline-Rich Proteins; C000717249:FLG protein, human; D000091344:Filaggrin Proteins; C549748:LCE3B protein, human; C524768:LCE3C protein, human; D007073:Immunoglobulin E