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Sökning: onr:"swepub:oai:DiVA.org:oru-63482" > Genome-wide SNP-bas...

  • Huyghe, Jeroen R.Department of Medical Genetics, University of Antwerp, Antwerp, Belgium (författare)

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

  • Artikel/kapitelEngelska2008

Förlag, utgivningsår, omfång ...

  • Cell Press,2008
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:oru-63482
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-63482URI
  • https://doi.org/10.1016/j.ajhg.2008.08.002DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-101436URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • Funding agencies:European Community QLRT2001-00331 the University of Antwerp  National Genome Research Network 01GR0416 
  • 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 och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Van Laer, LutDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium (författare)
  • Hendrickx, Jan-JaapDepartment of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium; Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands (författare)
  • Fransen, ErikDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium (författare)
  • Demeester, KellyDepartment of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium (författare)
  • Topsakal, VedatDepartment of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium (författare)
  • Kunst, SylviaDepartment of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands (författare)
  • Manninen, MinnaDepartment of Otorhinolaryngology, University of Tampere, Tampere, Finland (författare)
  • Jensen, MonaDepartment of Audiology, Bispebjerg Hospital, Copenhagen, Denmark (författare)
  • Bonaconsa, AmandaDepartment of Oto-surgery, University Hospital Padova, Padova, Italy (författare)
  • Mazzoli, ManuelaDepartment of Oto-surgery, University Hospital Padova, Padova, Italy (författare)
  • Baur, ManuelaDepartment of Otorhinolaryngology, University of Tübingen, Tübingen, Germany (författare)
  • Hannula, SamuliDepartment of Otorhinolaryngology, University of Oulu, Oulu, Finland (författare)
  • Mäki-Torkko, Elina,1961-Östergötlands Läns Landsting,Linköpings universitet,Örebro universitet,Institutionen för medicinska vetenskaper,Department of Otorhinolaryngology, University of Oulu, Oulu, Finland,Hälsouniversitetet,Öronkliniken US(Swepub:liu)elima30 (författare)
  • Espeso, AngelesWelsh Hearing Institute, Cardiff University, Cardiff, UK (författare)
  • Van Eyken, ElsDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium (författare)
  • Flaquer, AntoniaInstitute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany (författare)
  • Becker, ChristianCologne Center for Genomics (CCG) and Institute for Genetics, University of Cologne, Cologne, Germany (författare)
  • Stephens, DafyddWelsh Hearing Institute, Cardiff University, Cardiff, UK (författare)
  • Sorri, MarttiDepartment of Otorhinolaryngology, University of Oulu, Oulu, Finland (författare)
  • Orzan, EvaDepartment of Oto-surgery, University Hospital Padova, Padova, Italy (författare)
  • Bille, MichaelDepartment of Audiology, Bispebjerg Hospital, Copenhagen, Denmark (författare)
  • Parving, AgneteDepartment of Audiology, Bispebjerg Hospital, Copenhagen, Denmark (författare)
  • Pyykkö, IlmariDepartment of Otorhinolaryngology, University of Tampere, Tampere, Finland (författare)
  • Cremers, Cor W. R. J.Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands (författare)
  • Kremer, HannieDepartment of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, NL-6500 HB Nijmegen, the Netherlands; Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands (författare)
  • Van de Heyning, Paul H.Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium (författare)
  • Wienker, Thomas F.Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany (författare)
  • Nürnberg, PeterCologne 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 (författare)
  • Pfister, MarkusDepartment of Otorhinolaryngology, University of Tübingen, Tübingen, Germany (författare)
  • Van Camp, GuyDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium (författare)
  • Department of Medical Genetics, University of Antwerp, Antwerp, BelgiumDepartment of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium; Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:American Journal of Human Genetics: Cell Press83:3, s. 401-4070002-92971537-6605

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