Deletion of Late Cornified Envelope 3B and 3C Genes Is Not Associated with Atopic Dermatitis

被引：31

作者：

Bergboer, Judith G. M. ^{[1
]}

Zeeuwen, Patrick L. J. M. ^{[1
]}

Irvine, Alan D. ^{[2
,3
]}

Weidinger, Stephan ^{[4
]}

Giardina, Emiliano ^{[5
]}

Novelli, Giuseppe ^{[5
]}

Den Heijer, Martin ^{[6
,7
]}

Rodriguez, Elke ^{[4
]}

Illig, Thomas ^{[8
]}

Riveira-Munoz, Eva ^{[9
,10
]}

Campbell, Linda E. ^{[11
]}

Tyson, Jess ^{[12
]}

Dannhauser, Emma N. ^{[12
]}

O'Regan, Grainne M. ^{[2
]}

Galli, Elena ^{[13
]}

Klopp, Norman ^{[8
]}

Koppelman, Gerard H. ^{[14
]}

Novak, Natalija ^{[15
]}

Estivill, Xavier ^{[9
,10
,16
]}

McLean, W. H. Irwin ^{[2
]}

Postma, Dirkje S. ^{[17
]}

Armour, John A. L. ^{[12
]}

Schalkwijk, Joost ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Dept Dermatol, Med Ctr, Nijmegen Ctr Mol Life Sci, NL-6500 HB Nijmegen, Netherlands

[2] Our Ladys Childrens Hosp, Dept Pediat Dermatol, Dublin, Ireland

[3] Univ Dublin Trinity Coll, Dept Clin Med, Dublin 2, Ireland

[4] Tech Univ Munich, Dept Dermatol & Allergy, Munich, Germany

[5] Univ Roma Tor Vergata, Sch Med, Ctr Excellence Genom Risk Assessment Multifactori, Rome, Italy

[6] Radboud Univ Nijmegen, Dept Endocrinol, Med Ctr, NL-6500 HB Nijmegen, Netherlands

[7] Radboud Univ Nijmegen, Dept Epidemiol & Biostat, Med Ctr, NL-6500 HB Nijmegen, Netherlands

[8] Helmholtz Zentrum Muenchen, Inst Epidemiol, German Res Ctr Environm Hlth, Neuherberg, Germany

[9] Ctr Genom Regulat, Genes & Dis Programme, Barcelona, Spain

[10] Biomed Res Ctr CIBERESP, Publ Hlth & Epidemiol Network, Barcelona, Spain

[11] Univ Dundee, Div Mol Med, Epithelial Genet Grp, Dundee, Scotland

[12] Univ Nottingham, Queens Med Ctr, Inst Genet, Nottingham NG7 2RD, England

[13] San Pietro Hosp, Res Ctr, AFaR, Rome, Italy

[14] Beatrix Childrens Hosp, Med Ctr Groningen, Dept Pediat Pulmonol & Pediat Allergol, Groningen, Netherlands

[15] Univ Bonn, Dept Dermatol & Allergy, D-5300 Bonn, Germany

[16] Pompeu Fabra Univ, Barcelona, Spain

[17] Univ Groningen, Univ Med Ctr Groningen, Dept Pulmonol, Groningen, Netherlands

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2010年 / 130卷 / 08期

关键词：

OF-FUNCTION VARIANTS; STRUCTURAL VARIATION; FILAGGRIN GENE; PSORIASIS; MUTATIONS; INHIBITOR; BARRIER; ECZEMA; SPINK5;

D O I：

10.1038/jid.2010.88

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100227 [皮肤病学];

摘要：

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.

引用

页码：2057 / 2061

页数：5

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