Title: Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait
Authors: Huyghe, Jeroen R ×
Van Laer, Lut
Hendrickx, Jan-Jaap
Fransen, Erik
Demeester, Kelly
Topsakal, Vedat
Kunst, Sylvia
Manninen, Minna
Jensen, Mona
Bonaconsa, Amanda
Mazzoli, Manuela
Baur, Manuela
Hannula, Samuli
Mäki-Torkko, Elina
Espeso, Angeles
Van Eyken, Els
Flaquer, Antonia
Becker, Christian
Stephens, Dafydd
Sorri, Martti
Orzan, Eva
Bille, Michael
Parving, Agnete
Pyykkö, Ilmari
Cremers, Cor W R J
Kremer, Hannie
Van de Heyning, Paul H
Wienker, Thomas F
Nürnberg, Peter
Pfister, Markus
Van Camp, Guy #
Issue Date: Sep-2008
Publisher: American Society of Human Genetics
Series Title: American Journal of Human Genetics vol:83 issue:3 pages:401-7
Abstract: 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.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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