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.
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 ADpatients 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 ADpatients 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.
Authors: M J Visser; M D F Rhebergen; S Kezic; F J H van Dijk; D L Willems; M M Verberk Journal: Int Arch Occup Environ Health Date: 2012-09-25 Impact factor: 3.015
Authors: Ali H Ziyab; Wilfried Karmaus; Mitra Yousefi; Susan Ewart; Eric Schauberger; John W Holloway; Hongmei Zhang; Syed Hasan Arshad Journal: PLoS One Date: 2012-03-05 Impact factor: 3.240
Authors: Jenny S Breitenbach; Mark Rinnerthaler; Andrea Trost; Manuela Weber; Alfred Klausegger; Christina Gruber; Daniela Bruckner; Herbert A Reitsamer; Johann W Bauer; Michael Breitenbach Journal: Aging (Albany NY) Date: 2015-06 Impact factor: 5.682
Authors: M J Visser; L Landeck; L E Campbell; W H I McLean; S Weidinger; F Calkoen; S M John; S Kezic Journal: Br J Dermatol Date: 2013-02 Impact factor: 9.302