Related Experiment Video
Updated: Jun 19, 2026
Resolving Water, Proteins, and Lipids from In Vivo Confocal Raman Spectra of Stratum Corneum through a Chemometric Approach
Published on: September 26, 2019
Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients
Ek Greisenegger1, N Novak, L Maintz
1Department of Dermatology, Division of Immunology, Allergy and Infectious Diseases, Medical University of Vienna, Vienna, Austria.
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.
Related Concept Videos
01:09Cytoskeletal Linker Proteins - Plakins
01:05Type IV Collagen of Basal Lamina
A type IV collagen molecule has six alpha chains which can exist in...