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

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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00007409naa a2200733 4500
001oai:DiVA.org:oru-63482
003SwePub
008171219s2008 | |||||||||||000 ||eng|
009oai:DiVA.org:liu-101436
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-634822 URI
0247 a https://doi.org/10.1016/j.ajhg.2008.08.0022 DOI
0247 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 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Huyghe, Jeroen R.u Department of Medical Genetics, University of Antwerp, Antwerp, Belgium4 aut
2451 0a Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait
264 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Oto-rhino-laryngologi0 (SwePub)302182 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Otorhinolaryngology0 (SwePub)302182 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Van Laer, Lutu Department of Medical Genetics, University of Antwerp, Antwerp, Belgium4 aut
7001 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
7001 a Fransen, Eriku Department of Medical Genetics, University of Antwerp, Antwerp, Belgium4 aut
7001 a Demeester, Kellyu Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium4 aut
7001 a Topsakal, Vedatu Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium4 aut
7001 a Kunst, Sylviau Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands4 aut
7001 a Manninen, Minnau Department of Otorhinolaryngology, University of Tampere, Tampere, Finland4 aut
7001 a Jensen, Monau Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark4 aut
7001 a Bonaconsa, Amandau Department of Oto-surgery, University Hospital Padova, Padova, Italy4 aut
7001 a Mazzoli, Manuelau Department of Oto-surgery, University Hospital Padova, Padova, Italy4 aut
7001 a Baur, Manuelau Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany4 aut
7001 a Hannula, Samuliu Department of Otorhinolaryngology, University of Oulu, Oulu, Finland4 aut
7001 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
7001 a Espeso, Angelesu Welsh Hearing Institute, Cardiff University, Cardiff, UK4 aut
7001 a Van Eyken, Elsu Department of Medical Genetics, University of Antwerp, Antwerp, Belgium4 aut
7001 a Flaquer, Antoniau Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany4 aut
7001 a Becker, Christianu Cologne Center for Genomics (CCG) and Institute for Genetics, University of Cologne, Cologne, Germany4 aut
7001 a Stephens, Dafyddu Welsh Hearing Institute, Cardiff University, Cardiff, UK4 aut
7001 a Sorri, Marttiu Department of Otorhinolaryngology, University of Oulu, Oulu, Finland4 aut
7001 a Orzan, Evau Department of Oto-surgery, University Hospital Padova, Padova, Italy4 aut
7001 a Bille, Michaelu Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark4 aut
7001 a Parving, Agneteu Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark4 aut
7001 a Pyykkö, Ilmariu Department of Otorhinolaryngology, University of Tampere, Tampere, Finland4 aut
7001 a Cremers, Cor W. R. J.u Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands4 aut
7001 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
7001 a Van de Heyning, Paul H.u Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium4 aut
7001 a Wienker, Thomas F.u Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany4 aut
7001 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
7001 a Pfister, Markusu Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany4 aut
7001 a Van Camp, Guyu Department of Medical Genetics, University of Antwerp, Antwerp, Belgium4 aut
7102 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
7730 t American Journal of Human Geneticsd : Cell Pressg 83:3, s. 401-407q 83:3<401-407x 0002-9297x 1537-6605
8564 u https://doi.org/10.1016/j.ajhg.2008.08.002y Fulltext
8564 u http://www.cell.com/article/S0002929708004400/pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-63482
8564 8u https://doi.org/10.1016/j.ajhg.2008.08.002
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-101436

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