liu.seSearch for publications in DiVA
Change search
ReferencesLink to record
Permanent link

Direct link
A genome-wide association study for age-related hearing impairment in the Saami
University of Antwerp, Belgium.
University of Antwerp, Belgium.
University of Oulu, Finland.
University of Antwerp, Belgium.
Show others and affiliations
2010 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 18, no 6, 685-693 p.Article in journal (Refereed) Published
Abstract [en]

This study aimed at contributing to the elucidation of the genetic basis of age-related hearing impairment (ARHI), a common multifactorial disease with an important genetic contribution as demonstrated by heritability studies. We conducted a genome-wide association study (GWAS) in the Finnish Saami, a small, ancient, genetically isolated population without evidence of demographic expansion. The choice of this study population was motivated by its anticipated higher extent of LD, potentially offering a substantial power advantage for association mapping. DNA samples and audiometric measurements were collected from 352 Finnish Saami individuals, aged between 50 and 75 years. To reduce the burden of multiple testing, we applied principal component (PC) analysis to the multivariate audiometric phenotype. The first three PCs captured 80% of the variation in hearing thresholds, while maintaining biologically important audiometric features. All subjects were genotyped with the Affymetrix 100 K chip. To account for multiple levels of relatedness among subjects, as well as for population stratification, association testing was performed using a mixed model. We summarised the top-ranking association signals for the three traits under study. The top-ranked SNP, rs457717 (P-value 3.55 x 10(-7)), was associated with PC3 and was localised in an intron of the IQ motif-containing GTPase-activating-like protein (IQGAP2). Intriguingly, the SNP rs161927 (P-value 0.000149), seventh-ranked for PC1, was positioned immediately downstream from the metabotropic glutamate receptor-7 gene (GRM7). As a previous GWAS of a European and Finnish sample set already suggested a role for GRM7 in ARHI, this study provides further evidence for the involvement of this gene.

Place, publisher, year, edition, pages
2010. Vol. 18, no 6, 685-693 p.
Keyword [en]
Saami; isolated population; mixed model; genome-wide association study; age-related hearing impairment; presbycusis
National Category
URN: urn:nbn:se:liu:diva-101442DOI: 10.1038/ejhg.2009.234PubMedID: 20068591OAI: diva2:666276
Available from: 2013-11-22 Created: 2013-11-22 Last updated: 2013-12-17Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Mäki-Torkko, Elina
By organisation
Faculty of Health SciencesDepartment of ENT - Head and Neck Surgery UHL
In the same journal
European Journal of Human Genetics

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 43 hits
ReferencesLink to record
Permanent link

Direct link