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  • Van Laer, LutDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium (författare)

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

  • Artikel/kapitelEngelska2008

Förlag, utgivningsår, omfång ...

  • 2007-10-06
  • Oxford University Press,2008
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:oru-63471
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-63471URI
  • https://doi.org/10.1093/hmg/ddm292DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-101429URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

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

Anmärkningar

  • 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 och genrebeteckningar

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

  • Van Eyken, ElsDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium (författare)
  • Fransen, ErikDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium (författare)
  • Huyghe, Jeroen R.Department of Medical Genetics, University of Antwerp, Antwerp, Belgium (författare)
  • Topsakal, VedatDepartment of Otorhinolaryngology, University Hospital 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, Netherlands (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)
  • Jensen, MonaDepartment of Audiology, Bispebjerg Hospital, Copenhagen, Denmark (författare)
  • Demeester, KellyDepartment of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium (författare)
  • Baur, ManuelaDepartment of Otorhinolaryngology, University of Tübingen, Tübingen, Germany (författare)
  • Bonaconsa, AmandaDepartment of Oto-Surgery, University Hospital Padova, Padova, Italy (författare)
  • Mazzoli, ManuelaDepartment of Oto-Surgery, University Hospital Padova, Padova, Italy (författare)
  • Espeso, AngelesWelsh Hearing Institute, Cardiff University, Cardiff, United Kingdom,Cardiff University, UK (författare)
  • Verbruggen, KatiaDepartment of Otorhinolaryngology, University Hospital of Ghent, Ghent, Belgium (författare)
  • Huyghe, JokeDepartment of Otorhinolaryngology, University Hospital of Ghent, Ghent, Belgium (författare)
  • Huygen, PatrickDepartment of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands (författare)
  • Kunst, SylviaDepartment of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands (författare)
  • Manninen, MinnaDepartment of Otorhinolaryngology, University of Tampere, Tampere, Finland (författare)
  • Konings, AnneliesDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium (författare)
  • Diaz-Lacava, Amalia N.Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany (författare)
  • Steffens, MichaelInstitute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany (författare)
  • Wienker, Thomas F.Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany (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, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands (författare)
  • Kremer, HannieDepartment of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands (författare)
  • Dhooge, IngeborgDepartment of Otorhinolaryngology, University Hospital of Ghent, Ghent, Belgium (författare)
  • Stephens, DafyddWelsh Hearing Institute, Cardiff University, Cardiff, United Kingdom,Cardiff University, UK (författare)
  • Orzan, EvaDepartment of Oto-Surgery, University Hospital Padova, Padova, Italy (författare)
  • Pfister, MarkusDepartment of Otorhinolaryngology, University of Tübingen, Tübingen, Germany (författare)
  • Bille, MichaelDepartment of Audiology, Bispebjerg Hospital, Copenhagen, Denmark (författare)
  • Parving, AgneteDepartment of Audiology, Bispebjerg Hospital, Copenhagen, Denmark (författare)
  • Sorri, MarttiDepartment of Otorhinolaryngology, University of Oulu, Oulu, Finland (författare)
  • Van de Heyning, Paul H.Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium (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 (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Human Molecular Genetics: Oxford University Press17:2, s. 159-1690964-69061460-2083

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