Document Detail


Genotype-phenotype associations in filaggrin loss-of-function mutation carriers.
MedLine Citation:
PMID:  23421459     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Background. Loss-of-function mutations in the filaggrin gene (FLG) have been reported to be associated with specific phenotypic characteristics such as hyperlinearity and keratosis pilaris. Objectives. To study phenotypic features in patients with occupational irritant contact eczema of the hands in relation to FLG loss-of-function mutations. Materials and methods. In a prospective cohort study, genotype was determined for 459 study subjects for four FLG null alleles, and investigated for selected history, clinical and laboratory features. Results. Overall, 68 patients showed a mutation in the FLG alleles R501X, R2447X, S3247X, and/or 2282del4. Flexural eczema, xerosis cutis, pityriasis alba, dirty neck, pulpitis sicca, hyperlinear palms, keratosis pilaris and family history of eczema were positively associated with FLG mutations (p < 0.05). Although we observed a statistically significant correlation with higher serum IgE in FLG mutation carriers, allergic rhinoconjunctivitis and allergic asthma were not over-represented in this group. Conclusion. This study shows further genotype-phenotype correlations in patients with occupational irritant contact eczema and FLG mutation carrier status. These features may help to identify those with FLG mutations on a specific phenotype basis.
Authors:
Lilla Landeck; Maaike Visser; Sanja Kezic; Swen M John
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Contact dermatitis     Volume:  68     ISSN:  1600-0536     ISO Abbreviation:  Contact Derm.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-02-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7604950     Medline TA:  Contact Dermatitis     Country:  England    
Other Details:
Languages:  eng     Pagination:  149-55     Citation Subset:  IM    
Copyright Information:
© 2013 John Wiley & Sons A/S.
Affiliation:
Department of Dermatology, Environmental Medicine and Health Theory, University of Osnabrück, 49090 Osnabrück, Germany Coronel Institute of Occupational Health, Academic Medical Centre, University of Amsterdam, 1100 DE Amsterdam, The Netherlands.
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