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The grainyhead like...
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment
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- Van Laer, Lut (författare)
- Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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- Van Eyken, Els (författare)
- Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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- Fransen, Erik (författare)
- Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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visa fler...
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- Huyghe, Jeroen R. (författare)
- Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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- Topsakal, Vedat (författare)
- Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium
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- Hendrickx, Jan-Jaap (författare)
- Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium; Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
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- Hannula, Samuli (författare)
- Department of Otorhinolaryngology, University of Oulu, Oulu, Finland
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- Mäki-Torkko, Elina, 1961- (författare)
- Östergötlands Läns Landsting,Linköpings universitet,Örebro universitet,Institutionen för medicinska vetenskaper,Department of Otorhinolaryngology, University of Oulu, Oulu, Finland,Hälsouniversitetet,Öronkliniken US
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- Jensen, Mona (författare)
- Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark
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- Demeester, Kelly (författare)
- Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium
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- Baur, Manuela (författare)
- Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany
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- Bonaconsa, Amanda (författare)
- Department of Oto-Surgery, University Hospital Padova, Padova, Italy
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- Mazzoli, Manuela (författare)
- Department of Oto-Surgery, University Hospital Padova, Padova, Italy
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- Espeso, Angeles (författare)
- Welsh Hearing Institute, Cardiff University, Cardiff, United Kingdom,Cardiff University, UK
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- Verbruggen, Katia (författare)
- Department of Otorhinolaryngology, University Hospital of Ghent, Ghent, Belgium
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- Huyghe, Joke (författare)
- Department of Otorhinolaryngology, University Hospital of Ghent, Ghent, Belgium
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- Huygen, Patrick (författare)
- Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands
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- Kunst, Sylvia (författare)
- Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands
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- Manninen, Minna (författare)
- Department of Otorhinolaryngology, University of Tampere, Tampere, Finland
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- Konings, Annelies (författare)
- Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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- Diaz-Lacava, Amalia N. (författare)
- Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany
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- Steffens, Michael (författare)
- Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany
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- Wienker, Thomas F. (författare)
- Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany
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- Pyykkö, Ilmari (författare)
- Department of Otorhinolaryngology, University of Tampere, Tampere, Finland
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- Cremers, Cor W. R. J. (författare)
- Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands
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- Kremer, Hannie (författare)
- Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands
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- Dhooge, Ingeborg (författare)
- Department of Otorhinolaryngology, University Hospital of Ghent, Ghent, Belgium
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- Stephens, Dafydd (författare)
- Welsh Hearing Institute, Cardiff University, Cardiff, United Kingdom,Cardiff University, UK
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- Orzan, Eva (författare)
- Department of Oto-Surgery, University Hospital Padova, Padova, Italy
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- Pfister, Markus (författare)
- Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany
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- Bille, Michael (författare)
- Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark
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- Parving, Agnete (författare)
- Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark
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- Sorri, Martti (författare)
- Department of Otorhinolaryngology, University of Oulu, Oulu, Finland
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- Van de Heyning, Paul H. (författare)
- Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium
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- Van Camp, Guy (författare)
- Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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(creator_code:org_t)
- 2007-10-06
- 2008
- Engelska.
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Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 17:2, s. 159-169
- Relaterad länk:
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https://academic.oup...
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visa fler...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- Age-related hearing impairment (ARHI) is the most prevalent sensory impairment in the elderly. ARHI is a complex disease caused by an interaction between environmental and genetic factors. The contribution of various environmental factors has been relatively extensively studied. In contrast, investigations to identify the genetic risk factors have only recently been initiated. In this paper we describe the results of an association study performed on 2418 ARHI samples derived from nine centers from seven European countries. In 70 candidate genes, a total of 768 tag single nucleotide polymorphisms (SNPs) were selected based on HAPMAP data. These genes were chosen among the monogenic hearing loss genes identified in mice and men in addition to several strong functional candidates. After genotyping and data polishing, statistical analysis of all samples combined resulted in a P-value that survived correction for multiple testing for one SNP in the GRHL2 gene. Other SNPs in this gene were also associated, albeit to a lesser degree. Subsequently, an analysis of the most significant GRHL2 SNP was performed separately for each center. The direction of the association was identical in all nine centers. Two centers showed significant associations and a third center showed a trend towards significance. Subsequent fine mapping of this locus demonstrated that the majority of the associated SNPs reside in intron 1. We hypothesize that the causative variant may change the expression levels of a GRHL2 isoform.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Annan medicin och hälsovetenskap -- Gerontologi, medicinsk/hälsovetenskaplig inriktning (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Other Medical and Health Sciences -- Gerontology, specialising in Medical and Health Sciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oto-rhino-laryngologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Otorhinolaryngology (hsv//eng)
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Till lärosätets databas
- Av författaren/redakt...
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Van Laer, Lut
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Van Eyken, Els
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Fransen, Erik
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Huyghe, Jeroen R ...
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Topsakal, Vedat
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Hendrickx, Jan-J ...
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visa fler...
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Hannula, Samuli
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Mäki-Torkko, Eli ...
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Jensen, Mona
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Demeester, Kelly
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Baur, Manuela
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Bonaconsa, Amand ...
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Mazzoli, Manuela
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Espeso, Angeles
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Verbruggen, Kati ...
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Huyghe, Joke
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Huygen, Patrick
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Kunst, Sylvia
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Manninen, Minna
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Konings, Annelie ...
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Diaz-Lacava, Ama ...
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Steffens, Michae ...
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Wienker, Thomas ...
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Pyykkö, Ilmari
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Cremers, Cor W. ...
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Kremer, Hannie
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Dhooge, Ingeborg
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Stephens, Dafydd
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Orzan, Eva
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Pfister, Markus
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Bille, Michael
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Parving, Agnete
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Sorri, Martti
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Van de Heyning, ...
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Van Camp, Guy
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MEDICIN OCH HÄLS ...
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Human Molecular ...
- Av lärosätet
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Örebro universitet
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Linköpings universitet