Evidence map›Paper›PMID 20068591›Full record

ArticleEuropean journal of human genetics : EJHG2010

A genome-wide association study for age-related hearing impairment in the Saami.

Lut Van Laer, Jeroen R Huyghe, Samuli Hannula, Els Van Eyken, Dietrich A Stephan, Elina Mäki-Torkko, Pekka Aikio, Erik Fransen, Alana Lysholm-Bernacchi, Martti Sorri and 2 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed, 6 pooled it
2.7field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

62 citing papers in PubMed, 6 syntheses or guidelines pooled it, 114 citations in OpenAlex.

  1. Pooled it
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  6. Genome-wide association study for age-related hearing loss (AHL) in the mouse: a meta-analysis.Journal of the Association for Research in Otolaryngology : JARO · 2014
    Pooled it
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  12. Presbycusis: Pathology, Signal Pathways, and Therapeutic Strategy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025
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2 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 3 institutions in 3 countries.

Lut Van LaerDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Jeroen R Huyghe
Samuli Hannula
Els Van Eyken
Dietrich A Stephan
Elina Mäki-Torkko
Pekka Aikio
Erik Fransen
Alana Lysholm-Bernacchi
Martti Sorri
Matthew J Huentelman
Guy Van Camp
University of Antwerp · BEUniversity of Oulu · FITranslational Genomics Research Institute · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

AgedAged, 80 and overAge FactorsAgingFemaleFinlandGene FrequencyGenome-Wide Association StudyHearing LossHumansMaleMiddle AgedPolymorphism, Single Nucleotideras GTPase-Activating ProteinsReceptors, Metabotropic GlutamateScandinavian and Nordic CountriesIQGAP2 protein, humanmetabotropic glutamate receptor 7ras GTPase-Activating ProteinsReceptors, Metabotropic Glutamate

Identifiers

PMID20068591
PMCPMC2987344
OpenAlexW2002331408

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.