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Carrier Status for the Common R501X and 2282del4 Filaggrin Mutations Is Not Associated with Hearing Phenotypes in 5377 Children from the ALSPAC Cohort

BACKGROUND: Filaggrin 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...

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Autores principales: Rodriguez, Santiago, Hall, Amanda J., Granell, Raquel, McLean, W. H. Irwin, Irvine, Alan D., Palmer, Colin N. A., Smith, George Davey, Henderson, John, Day, Ian N. M.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2685991/
https://www.ncbi.nlm.nih.gov/pubmed/19492053
http://dx.doi.org/10.1371/journal.pone.0005784
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author Rodriguez, Santiago
Hall, Amanda J.
Granell, Raquel
McLean, W. H. Irwin
Irvine, Alan D.
Palmer, Colin N. A.
Smith, George Davey
Henderson, John
Day, Ian N. M.
author_facet Rodriguez, Santiago
Hall, Amanda J.
Granell, Raquel
McLean, W. H. Irwin
Irvine, Alan D.
Palmer, Colin N. A.
Smith, George Davey
Henderson, John
Day, Ian N. M.
author_sort Rodriguez, Santiago
collection PubMed
description BACKGROUND: Filaggrin 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 FINDINGS: We 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/SIGNIFICANCE: In conclusion, carrier status for common filaggrin mutations does not affect hearing in children.
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spelling pubmed-26859912009-06-03 Carrier Status for the Common R501X and 2282del4 Filaggrin Mutations Is Not Associated with Hearing Phenotypes in 5377 Children from the ALSPAC Cohort Rodriguez, Santiago Hall, Amanda J. Granell, Raquel McLean, W. H. Irwin Irvine, Alan D. Palmer, Colin N. A. Smith, George Davey Henderson, John Day, Ian N. M. PLoS One Research Article BACKGROUND: Filaggrin 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 FINDINGS: We 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/SIGNIFICANCE: In conclusion, carrier status for common filaggrin mutations does not affect hearing in children. Public Library of Science 2009-06-03 /pmc/articles/PMC2685991/ /pubmed/19492053 http://dx.doi.org/10.1371/journal.pone.0005784 Text en Rodriguez et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Rodriguez, Santiago
Hall, Amanda J.
Granell, Raquel
McLean, W. H. Irwin
Irvine, Alan D.
Palmer, Colin N. A.
Smith, George Davey
Henderson, John
Day, Ian N. M.
Carrier Status for the Common R501X and 2282del4 Filaggrin Mutations Is Not Associated with Hearing Phenotypes in 5377 Children from the ALSPAC Cohort
title Carrier Status for the Common R501X and 2282del4 Filaggrin Mutations Is Not Associated with Hearing Phenotypes in 5377 Children from the ALSPAC Cohort
title_full Carrier Status for the Common R501X and 2282del4 Filaggrin Mutations Is Not Associated with Hearing Phenotypes in 5377 Children from the ALSPAC Cohort
title_fullStr Carrier Status for the Common R501X and 2282del4 Filaggrin Mutations Is Not Associated with Hearing Phenotypes in 5377 Children from the ALSPAC Cohort
title_full_unstemmed Carrier Status for the Common R501X and 2282del4 Filaggrin Mutations Is Not Associated with Hearing Phenotypes in 5377 Children from the ALSPAC Cohort
title_short Carrier Status for the Common R501X and 2282del4 Filaggrin Mutations Is Not Associated with Hearing Phenotypes in 5377 Children from the ALSPAC Cohort
title_sort carrier status for the common r501x and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5377 children from the alspac cohort
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2685991/
https://www.ncbi.nlm.nih.gov/pubmed/19492053
http://dx.doi.org/10.1371/journal.pone.0005784
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