Title: The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment
Authors: Van Laer, Lut ×
Van Eyken, Els
Fransen, Erik
Huyghe, Jeroen R
Topsakal, Vedat
Hendrickx, Jan-Jaap
Hannula, Samuli
Mäki-Torkko, Elina
Jensen, Mona
Demeester, Kelly
Baur, Manuela
Bonaconsa, Amanda
Mazzoli, Manuela
Espeso, Angeles
Verbruggen, Katia
Huyghe, Joke
Huygen, Patrick
Kunst, Sylvia
Manninen, Minna
Konings, Annelies
Diaz-Lacava, Amalia N
Steffens, Michael
Wienker, Thomas F
Pyykkö, Ilmari
Cremers, Cor W R J
Kremer, Hannie
Dhooge, Ingeborg
Stephens, Dafydd
Orzan, Eva
Pfister, Markus
Bille, Michael
Parving, Agnete
Sorri, Martti
Van de Heyning, Paul H
Van Camp, Guy #
Issue Date: Jan-2008
Publisher: IRL Press
Series Title: Human Molecular Genetics vol:17 issue:2 pages:159-169
Abstract: 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.
ISSN: 0964-6906
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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