Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis

被引：45

作者：

Greisenegger, E. K. ^{[1
]}

Novak, N. ^{[2
]}

Maintz, L. ^{[2
]}

Bieber, T. ^{[2
]}

Zimprich, F. ^{[3
]}

Haubenberger, D. ^{[3
]}

Gleiss, A. ^{[4
]}

Stingl, G. ^{[1
]}

Kopp, T. ^{[1
]}

Zimprich, A. ^{[3
]}

机构：

[1] Med Univ Vienna, Dept Dermatol, Div Immunol Allergy & Infect Dis, Vienna, Austria

[2] Univ Bonn, Dept Dermatol & Allergy, Med Ctr, D-5300 Bonn, Germany

[3] Med Univ Vienna, Dept Neurol, Vienna, Austria

[4] Med Univ Vienna, Sect Clin Biometr, Core Unit Med Stat & Informat, Vienna, Austria

来源：

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 2010年 / 24卷 / 05期

关键词：

atopic dermatitis; Austrian and German population; filaggrin mutations; polymorphism; OF-FUNCTION MUTATIONS; ICHTHYOSIS VULGARIS; NULL MUTATIONS; ECZEMA; POPULATION; CHILDHOOD; ASTHMA; PREDISPOSE; PHENOTYPES; CHILDREN;

D O I：

10.1111/j.1468-3083.2009.03469.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Background Recently, mutations in the filaggrin gene (FLG) have been shown to be a major predisposing factor for atopic dermatitis (AD). Objective In this study, we evaluated the influence of four prevalent mutations (R501X, 2282del4, R2447X and S3247X) in a large cohort of 462 Austrian and German AD patients and in 402 control individuals. Results We found a strong association of the FLG mutations with AD. Subgroup analysis revealed a significantly higher proportion of patients with an early age of disease onset and significantly higher median serum IgE levels among mutation carriers. Furthermore, we observed an overrepresentation of null alleles in AD patients with concomitant asthma compared with those without this co-morbidity. Conclusion Our data confirm and extend the knowledge of the influence of FLG mutations in AD.

引用

页码：607 / 610

页数：4

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