Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations

被引：456

作者：

Weidinger, Stephan

Illig, Thomas

Baurecht, Hansjoerg

Irvine, Alan D.

Rodriguez, Elke

Diaz-Lacava, Amalia

Klopp, Norman

Wagenpfeil, Stefan

Zhao, Yiwei

Liao, Haihui

Lee, Simon P.

Palmer, Colin N. A.

Jenneck, Claudia

Maintz, Laura

Hagemann, Tobias

Behrendt, Heidrun

Ring, Johannes

Nothen, Markus M.

McLean, W. H. Irwin

Novak, Natalija

机构：

[1] Tech Univ Munich, Dept Dermatol & Allergy Biederstein, D-80802 Munich, Germany

[2] Tech Univ Munich, Div Environm Dermatol & Allergy, GSF Natl Res Ctr Environm & Hlth, D-80802 Munich, Germany

[3] Tech Univ Munich, ZAUM Ctr Allergy & Environm, D-80802 Munich, Germany

[4] Tech Univ Munich, Inst Med Stat & Epidemiol IMSE, D-80802 Munich, Germany

[5] GSF Natl Res Ctr Environm & Hlth, Dept Epidemiol, Neuherberg, Germany

[6] Our Ladys Hosp Sick Children, Dept Pediat Dermatol, Dublin 12, Ireland

[7] Univ Bonn, Inst Med Biometry Informat & Epidemiol, Life & Brain Ctr, D-5300 Bonn, Germany

[8] Univ Bonn, Dept Dermatol, Life & Brain Ctr, D-5300 Bonn, Germany

[9] Univ Bonn, Dept Genom, Life & Brain Ctr, D-5300 Bonn, Germany

[10] Univ Dundee, Epithelial Genet Grp, Human Genet Unit, Div Pathol & Neurosci, Dundee, Scotland

[11] Univ Dundee, Biomed Res Ctr, Populat Pharmacogenet Grp, Dundee, Scotland

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2006年 / 118卷 / 01期

基金：

英国医学研究理事会;

关键词：

atopic dermatitis; skin barrier; epidermal differentiation complex; polymorphisms; filaggrin;

D O I：

10.1016/j.jaci.2006.05.004

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

Background: Atopic dermatitis (AD) is a chronic inflammatory skin disease with a strong genetic background. One of the characteristic features of AD and causative factor for the disease is an impaired epidermal skin barrier based on a primary defect of epidermal differentiation. Objectives: Recently, 2 loss-of-function mutations (R501X and 2282der14) in the filaggrin gene (FLG) that cause ichthyosis vulgaris, one of the most common inherited skin disorders of keratinization, have been reported to be strong predisposing factors for AD.

引用

页码：214 / 219

页数：6

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