Document Detail

Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.
MedLine Citation:
PMID:  20376060     Owner:  NLM     Status:  MEDLINE    
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.
Judith G M Bergboer; Patrick L J M Zeeuwen; Alan D Irvine; Stephan Weidinger; Emiliano Giardina; Giuseppe Novelli; Martin Den Heijer; Elke Rodriguez; Thomas Illig; Eva Riveira-Munoz; Linda E Campbell; Jess Tyson; Emma N Dannhauser; Gráinne M O'Regan; Elena Galli; Norman Klopp; Gerard H Koppelman; Natalija Novak; Xavier Estivill; W H Irwin McLean; Dirkje S Postma; John A L Armour; Joost Schalkwijk
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-04-08
Journal Detail:
Title:  The Journal of investigative dermatology     Volume:  130     ISSN:  1523-1747     ISO Abbreviation:  J. Invest. Dermatol.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-07-15     Completed Date:  2010-08-05     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  0426720     Medline TA:  J Invest Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2057-61     Citation Subset:  IM    
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MeSH Terms
Asthma / ethnology,  genetics
Case-Control Studies
Cohort Studies
Cornified Envelope Proline-Rich Proteins / genetics*
Dermatitis, Atopic / ethnology*,  genetics*
Europe / epidemiology
European Continental Ancestry Group / genetics*
Gene Deletion
Gene Frequency
Immunoglobulin E / blood
Linkage Disequilibrium
Middle Aged
Grant Support
G0700314//Medical Research Council
Reg. No./Substance:
0/Cornified Envelope Proline-Rich Proteins; 0/LCE3B protein, human; 0/LCE3C protein, human; 37341-29-0/Immunoglobulin E

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