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Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait

Huyghe, Jeroen R. (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Van Laer, Lut (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Hendrickx, Jan-Jaap (författare)
Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium; Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
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Fransen, Erik (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Demeester, Kelly (författare)
Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium
Topsakal, Vedat (författare)
Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium
Kunst, Sylvia (författare)
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
Manninen, Minna (författare)
Department of Otorhinolaryngology, University of Tampere, Tampere, Finland
Jensen, Mona (författare)
Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark
Bonaconsa, Amanda (författare)
Department of Oto-surgery, University Hospital Padova, Padova, Italy
Mazzoli, Manuela (författare)
Department of Oto-surgery, University Hospital Padova, Padova, Italy
Baur, Manuela (författare)
Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany
Hannula, Samuli (författare)
Department of Otorhinolaryngology, University of Oulu, 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
Espeso, Angeles (författare)
Welsh Hearing Institute, Cardiff University, Cardiff, UK
Van Eyken, Els (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Flaquer, Antonia (författare)
Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany
Becker, Christian (författare)
Cologne Center for Genomics (CCG) and Institute for Genetics, University of Cologne, Cologne, Germany
Stephens, Dafydd (författare)
Welsh Hearing Institute, Cardiff University, Cardiff, UK
Sorri, Martti (författare)
Department of Otorhinolaryngology, University of Oulu, Oulu, Finland
Orzan, Eva (författare)
Department of Oto-surgery, University Hospital Padova, Padova, Italy
Bille, Michael (författare)
Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark
Parving, Agnete (författare)
Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark
Pyykkö, Ilmari (författare)
Department of Otorhinolaryngology, University of Tampere, Tampere, Finland
Cremers, Cor W. R. J. (författare)
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
Kremer, Hannie (författare)
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, NL-6500 HB Nijmegen, the Netherlands; Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands
Van de Heyning, Paul H. (författare)
Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium
Wienker, Thomas F. (författare)
Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany
Nürnberg, Peter (författare)
Cologne Center for Genomics (CCG) and Institute for Genetics, University of Cologne, Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-associated Diseases (CECAD), University of Cologne, D-50674Cologne, Germany
Pfister, Markus (författare)
Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany
Van Camp, Guy (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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 (creator_code:org_t)
Cell Press, 2008
2008
Engelska.
Ingår i: American Journal of Human Genetics. - : Cell Press. - 0002-9297 .- 1537-6605. ; 83:3, s. 401-407
Relaterad länk:
https://doi.org/10.1...
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http://www.cell.com/...
https://urn.kb.se/re...
https://doi.org/10.1...
https://urn.kb.se/re...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Age-related hearing impairment (ARHI), or presbycusis, is a very common multifactorial disorder. Despite the knowledge that genetics play an important role in the etiology of human ARHI as revealed by heritability studies, to date, its precise genetic determinants remain elusive. Here we report the results of a cross-sectional family-based genetic study employing audiometric data. By using principal component analysis, we were able to reduce the dimensionality of this multivariate phenotype while capturing most of the variation and retaining biologically important features of the audiograms. We conducted a genome-wide association as well as a linkage scan with high-density SNP microarrays. Because of the presence of genetic population substructure, association testing was stratified after which evidence was combined by meta-analysis. No association signals reaching genome-wide significance were detected. Linkage analysis identified a linkage peak on 8q24.13-q24.22 for a trait correlated to audiogram shape. The signal reached genome-wide significance, as assessed by simulations. This finding represents the first locus for an ARHI trait.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Oto-rhino-laryngologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Otorhinolaryngology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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