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Sökning: onr:"swepub:oai:DiVA.org:oru-63471" > The grainyhead like...

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment

Van Laer, Lut (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium,University of Antwerp, Belgium
Van Eyken, Els (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium,University of Antwerp, Belgium
Fransen, Erik (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium,University of Antwerp, Belgium
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Huyghe, Jeroen R. (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Topsakal, Vedat (författare)
Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium,University Hospital of Antwerp, Belgium
Hendrickx, Jan-Jaap (författare)
Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium; Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,University Hospital of Antwerp, Belgium
Hannula, Samuli (författare)
Department of Otorhinolaryngology, University of Oulu, Oulu, Finland,University of Oulu, Finland
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,University of Oulu, Finland
Jensen, Mona (författare)
Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark,Bispebjerg Hospital, Copenhagen, Denmark
Demeester, Kelly (författare)
Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium,University Hospital of Antwerp, Belgium
Baur, Manuela (författare)
Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany,University of Tuebingen, Germany
Bonaconsa, Amanda (författare)
Department of Oto-Surgery, University Hospital Padova, Padova, Italy,University Hospital Padova, Italy
Mazzoli, Manuela (författare)
Department of Oto-Surgery, University Hospital Padova, Padova, Italy,University Hospital Padova, Italy
Espeso, Angeles (författare)
Welsh Hearing Institute, Cardiff University, Cardiff, United Kingdom,Cardiff University, UK
Verbruggen, Katia (författare)
Department of Otorhinolaryngology, University Hospital of Ghent, Ghent, Belgium,University Hospital of Gent, Belgium
Huyghe, Joke (författare)
Department of Otorhinolaryngology, University Hospital of Ghent, Ghent, Belgium,University Hospital of Gent, Belgium
Huygen, Patrick (författare)
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands
Kunst, Sylvia (författare)
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands
Manninen, Minna (författare)
Department of Otorhinolaryngology, University of Tampere, Tampere, Finland,University of Tampere, Finland
Konings, Annelies (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium,University of Antwerp, Belgium
Diaz-Lacava, Amalia N. (författare)
Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany
Steffens, Michael (författare)
Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany,University of Bonn, Germany
Wienker, Thomas F. (författare)
Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany
Pyykkö, Ilmari (författare)
Department of Otorhinolaryngology, University of Tampere, Tampere, Finland,University of Tampere, Finland
Cremers, Cor W. R. J. (författare)
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
Kremer, Hannie (författare)
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands
Dhooge, Ingeborg (författare)
Department of Otorhinolaryngology, University Hospital of Ghent, Ghent, Belgium,University Hospital of Gent, Belgium
Stephens, Dafydd (författare)
Welsh Hearing Institute, Cardiff University, Cardiff, United Kingdom,Cardiff University, UK
Orzan, Eva (författare)
Department of Oto-Surgery, University Hospital Padova, Padova, Italy,University Hospital Padova, Italy
Pfister, Markus (författare)
Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany,University of Tuebingen, Germany
Bille, Michael (författare)
Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark
Parving, Agnete (författare)
Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark,Bispebjerg Hospital, Copenhagen, Denmark
Sorri, Martti (författare)
Department of Otorhinolaryngology, University of Oulu, Oulu, Finland,University of Oulu, Finland
Van de Heyning, Paul H. (författare)
Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium
Van Camp, Guy (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium,University of Antwerp, Belgium
Cremers, Cor (författare)
Radboud University Nijmegen Medical Centre, The Netherlands
Huyghe, Jeroen (författare)
University of Antwerp, Belgium
Wienker, Thomas (författare)
University of Bonn, Germany
Diaz-Lacava, Amalia (författare)
University of Bonn, Germany
Bille, Mikael (författare)
Bispebjerg Hospital, Copenhagen, Denmark
Van de Heyning, Paul (författare)
University Hospital of Antwerp, Belgium
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 (creator_code:org_t)
Oxford University Press, 2008
2008
Engelska.
Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 17:2, s. 159-169
  • Tidskriftsartikel (refereegranskat)
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

MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Other Medical Sciences -- Gerontology, specialising in Medical and Health Sciences (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Annan medicin och hälsovetenskap -- Gerontologi, medicinsk/hälsovetenskaplig inriktning (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Otorhinolaryngology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Oto-rino-laryngologi (hsv//swe)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICIN OCH HÄLSOVETENSKAP  -- Annan medicin och hälsovetenskap (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine (hsv//eng)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)
MEDICAL AND HEALTH SCIENCES  -- Other Medical and Health Sciences (hsv//eng)

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