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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...
Autores principales: | , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2009
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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. |
format | Text |
id | pubmed-2685991 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2009 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
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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