Abstract
BackgroundFilaggrin is a major protein in the epidermis. Several mutations in the filaggrin gene (FLG) have been associated with a number of conditions. Filaggrin is expressed in the tympanic membrane and could alter its mechanical properties, but the relationship between genetic variation in FLG and hearing has not yet been tested.Methodology/Principal FindingsWe examined whether loss-of function mutations R501X and 2282del4 in the FLG gene affected hearing in children. Twenty eight hearing variables representing five different aspects of hearing at age nine years in 5,377 children from the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort were tested for association with these mutations. No evidence of association was found between R501X or 2282del4 (or overall FLG mutation carrier status) and any of the hearing phenotypes analysed.Conclusions/SignificanceIn conclusion, carrier status for common filaggrin mutations does not affect hearing in children.
Highlights
Filaggrin is a major protein in the cornified envelope of the epidermis and is involved in maintaining the skin barrier [1,2]
Filaggrin has been linked to several clinical phenotypes, with filaggrin mutations being directly associated with the cause, susceptibility to, or modification of the clinical expression of several diseases including dermatological disorders [2]
Common mutations in filaggrin gene (FLG) have been implicated in the causation of ichthyosis vulgaris and appear to be a major risk factor for atopic dermatitis, asthma associated with atopic dermatitis, eczema, sensitization to grass, house dust mite and cat dander, and sensitization to multiple allergens [2,4,5]
Summary
Filaggrin (filament aggregation protein) is a major protein in the cornified envelope of the epidermis and is involved in maintaining the skin barrier [1,2]. Two of the most studied mutations (R501X and 2282del4) are common in populations of European ancestry [6] Both R501X and 2282del are loss-of function mutations leading to truncation of filaggrin translation by creating premature termination codons [7]. Additional reports confirmed the role of R501X and 2282del on ichthyosis vulgaris ([8] for review) One of these studies [9] showed that heterozygous individuals were severely affected, suggesting that additional mutations might be present in these patients. There has been no consideration of the possible effects with respect to filaggrin expression in the tympanic membrane Based on this evidence we tested whether carrier status for a single copy of these mutations is a risk or protective factor for hearing loss/enhanced hearing in an epidemiological survey of 5,377 UK children with detailed phenotypic information for a range of hearing phenotypes
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