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Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium; Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
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2008 (English)In: American Journal of Human Genetics, ISSN 0002-9297, E-ISSN 1537-6605, Vol. 83, no 3, 401-407 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Cell Press , 2008. Vol. 83, no 3, 401-407 p.
National Category
Medical and Health Sciences Otorhinolaryngology Medical Genetics
Identifiers
URN: urn:nbn:se:oru:diva-63482DOI: 10.1016/j.ajhg.2008.08.002ISI: 000259307200010PubMedID: 18760390Scopus ID: 2-s2.0-50949121143OAI: oai:DiVA.org:oru-63482DiVA: diva2:1168038
Note

Funding agencies:

European Community QLRT2001-00331 

the University of Antwerp  

National Genome Research Network 01GR0416 

Available from: 2017-12-19 Created: 2017-12-19 Last updated: 2018-01-15Bibliographically approved

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Mäki-Torkko, Elina

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