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A genome-wide assoc...
A genome-wide association study for age-related hearing impairment in the Saami
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- Van Laer, Lut (författare)
- Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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- Huyghe, Jeroen R. (författare)
- Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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- Hannula, Samuli (författare)
- Department of Otorhinolaryngology, University of Oulu, Oulu, Finland
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- Van Eyken, Els (författare)
- Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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- Stephan, Dietrich A. (författare)
- Neurogenomics Division, Translational Genomics Research Institute, Phoenix AZ, United States,Translational Genomics Research Institute, Phoenix, AZ, USA
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- Mäki-Torkko, Elina, 1961- (författare)
- Östergötlands Läns Landsting,Linköpings universitet,Örebro universitet,Institutionen för medicinska vetenskaper,Department of Otorhinolaryngology, University of Oulu, Oulu, Finland,Hälsouniversitetet,Öronkliniken US
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- Aikio, Pekka (författare)
- Thule Institute, University of Oulu, Oulu, Finland
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- Fransen, Erik (författare)
- Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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- Lysholm-Bernacchi, Alana (författare)
- Neurogenomics Division, Translational Genomics Research Institute, Phoenix AZ, United States,The Translational Genomics Research Institute, Phoenix, AZ, USA
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- Sorri, Martti (författare)
- Department of Otorhinolaryngology, University of Oulu, Oulu, Finland
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- Huentelman, Matthew J. (författare)
- Neurogenomics Division, Translational Genomics Research Institute, Phoenix AZ, United States,Translational Genomics Research Institute, Phoenix, AZ, USA
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- Van Camp, Guy (författare)
- Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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(creator_code:org_t)
- 2010-01-13
- 2010
- Engelska.
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Ingår i: European Journal of Human Genetics. - : BMJ Publishing Group Ltd. - 1018-4813 .- 1476-5438. ; 18:6, s. 685-693
- Relaterad länk:
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https://doi.org/10.1...
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https://www.nature.c...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Annan medicin och hälsovetenskap -- Gerontologi, medicinsk/hälsovetenskaplig inriktning (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Other Medical and Health Sciences -- Gerontology, specialising in Medical and Health Sciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oto-rhino-laryngologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Otorhinolaryngology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Saami; isolated population; mixed model; genome-wide association study; age-related hearing impairment; presbycusis
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Van Laer, Lut
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Huyghe, Jeroen R ...
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Hannula, Samuli
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Van Eyken, Els
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Stephan, Dietric ...
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Mäki-Torkko, Eli ...
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Aikio, Pekka
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Fransen, Erik
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Lysholm-Bernacch ...
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Sorri, Martti
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Huentelman, Matt ...
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Van Camp, Guy
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Annan medicin oc ...
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och Gerontologi medi ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Oto rhino laryng ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
- Artiklar i publikationen
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European Journal ...
- Av lärosätet
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Örebro universitet
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Linköpings universitet