Sökning: onr:"swepub:oai:DiVA.org:oru-63482" > Genome-wide SNP-bas...
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000 | 07409naa a2200733 4500 | |
001 | oai:DiVA.org:oru-63482 | |
003 | SwePub | |
008 | 171219s2008 | |||||||||||000 ||eng| | |
009 | oai:DiVA.org:liu-101436 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-634822 URI |
024 | 7 | a https://doi.org/10.1016/j.ajhg.2008.08.0022 DOI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1014362 URI |
040 | a (SwePub)orud (SwePub)liu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Huyghe, Jeroen R.u Department of Medical Genetics, University of Antwerp, Antwerp, Belgium4 aut |
245 | 1 0 | a Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait |
264 | 1 | b Cell Press,c 2008 |
338 | a print2 rdacarrier | |
500 | a Funding agencies:European Community QLRT2001-00331 the University of Antwerp National Genome Research Network 01GR0416 | |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Oto-rhino-laryngologi0 (SwePub)302182 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Otorhinolaryngology0 (SwePub)302182 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
700 | 1 | a Van Laer, Lutu Department of Medical Genetics, University of Antwerp, Antwerp, Belgium4 aut |
700 | 1 | a Hendrickx, Jan-Jaapu Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium; Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands4 aut |
700 | 1 | a Fransen, Eriku Department of Medical Genetics, University of Antwerp, Antwerp, Belgium4 aut |
700 | 1 | a Demeester, Kellyu Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium4 aut |
700 | 1 | a Topsakal, Vedatu Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium4 aut |
700 | 1 | a Kunst, Sylviau Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands4 aut |
700 | 1 | a Manninen, Minnau Department of Otorhinolaryngology, University of Tampere, Tampere, Finland4 aut |
700 | 1 | a Jensen, Monau Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark4 aut |
700 | 1 | a Bonaconsa, Amandau Department of Oto-surgery, University Hospital Padova, Padova, Italy4 aut |
700 | 1 | a Mazzoli, Manuelau Department of Oto-surgery, University Hospital Padova, Padova, Italy4 aut |
700 | 1 | a Baur, Manuelau Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany4 aut |
700 | 1 | a Hannula, Samuliu Department of Otorhinolaryngology, University of Oulu, Oulu, Finland4 aut |
700 | 1 | a Mäki-Torkko, Elina,d 1961-u Östergötlands Läns Landsting,Linköpings universitet,Örebro universitet,Institutionen för medicinska vetenskaper,Department of Otorhinolaryngology, University of Oulu, Oulu, Finland,Hälsouniversitetet,Öronkliniken US4 aut0 (Swepub:liu)elima30 |
700 | 1 | a Espeso, Angelesu Welsh Hearing Institute, Cardiff University, Cardiff, UK4 aut |
700 | 1 | a Van Eyken, Elsu Department of Medical Genetics, University of Antwerp, Antwerp, Belgium4 aut |
700 | 1 | a Flaquer, Antoniau Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany4 aut |
700 | 1 | a Becker, Christianu Cologne Center for Genomics (CCG) and Institute for Genetics, University of Cologne, Cologne, Germany4 aut |
700 | 1 | a Stephens, Dafyddu Welsh Hearing Institute, Cardiff University, Cardiff, UK4 aut |
700 | 1 | a Sorri, Marttiu Department of Otorhinolaryngology, University of Oulu, Oulu, Finland4 aut |
700 | 1 | a Orzan, Evau Department of Oto-surgery, University Hospital Padova, Padova, Italy4 aut |
700 | 1 | a Bille, Michaelu Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark4 aut |
700 | 1 | a Parving, Agneteu Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark4 aut |
700 | 1 | a Pyykkö, Ilmariu Department of Otorhinolaryngology, University of Tampere, Tampere, Finland4 aut |
700 | 1 | a Cremers, Cor W. R. J.u Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands4 aut |
700 | 1 | a Kremer, Hannieu Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, NL-6500 HB Nijmegen, the Netherlands; Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands4 aut |
700 | 1 | a Van de Heyning, Paul H.u Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium4 aut |
700 | 1 | a Wienker, Thomas F.u Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany4 aut |
700 | 1 | a Nürnberg, Peteru 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, Germany4 aut |
700 | 1 | a Pfister, Markusu Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany4 aut |
700 | 1 | a Van Camp, Guyu Department of Medical Genetics, University of Antwerp, Antwerp, Belgium4 aut |
710 | 2 | a Department of Medical Genetics, University of Antwerp, Antwerp, Belgiumb Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium; Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands4 org |
773 | 0 | t American Journal of Human Geneticsd : Cell Pressg 83:3, s. 401-407q 83:3<401-407x 0002-9297x 1537-6605 |
856 | 4 | u https://doi.org/10.1016/j.ajhg.2008.08.002y Fulltext |
856 | 4 | u http://www.cell.com/article/S0002929708004400/pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-63482 |
856 | 4 8 | u https://doi.org/10.1016/j.ajhg.2008.08.002 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-101436 |
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