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

作者：Greisenegger E K; Novak N; Maintz L; Bieber T; Zimprich F; Haubenberger D; Gleiss A; Stingl G; Kopp T^*; Zimprich A

来源：Journal of the European Academy of Dermatology and Venereology, 2010, 24(5): 607-610.

DOI：10.1111/j.1468-3083.2009.03469.x

• atopic dermatitis
• Austrian and German population
• filaggrin mutations
• polymorphism

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.

• 出版日期2010-5