Genome-wide SNP-Based Linkage Scan Identifies a Locus on 8q24 for an Age-Related Hearing Impairment Trait
| Autor: | Christian Becker, Dafydd Stephens, Minna Manninen, Elina Mäki-Torkko, Markus Pfister, Thomas F. Wienker, Peter Nürnberg, Antonia Flaquer, Samuli Hannula, Hannie Kremer, Angeles Espeso, Guy Van Camp, Paul Van de Heyning, Ilmari Pyykkö, Sylvia J. W. Kunst, Jeroen R. Huyghe, Amanda Bonaconsa, Agnete Parving, Eva Orzan, Vedat Topsakal, Kelly Demeester, Manuela Baur, Manuela Mazzoli, Mona Jensen, Cor W. R. J. Cremers, Lut Van Laer, Michael Bille, Martti Sorri, Els Van Eyken, Jan Hendrickx, Erik Fransen |
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| Přispěvatelé: | Specialities, Ear, nose & throat, Internal Medicine Specializations |
| Rok vydání: | 2008 |
| Předmět: |
Male
Aging medicine.medical_specialty Genetics and epigenetic pathways of disease [NCMLS 6] Quantitative Trait Loci Principal component analysis Single-nucleotide polymorphism Locus (genetics) Quantitative trait locus Biology Polymorphism Single Nucleotide surgery 03 medical and health sciences 0302 clinical medicine Gene mapping Genetic linkage Report Aging/genetics Perception and Action [DCN 1] Genetics medicine Humans Neurosensory disorders [UMCN 3.3] SNP Genetics(clinical) Genetics (clinical) Aged 030304 developmental biology 0303 health sciences Genome Human Presbycusis Middle Aged Heritability Chromosomes Human Pair 8/genetics Cross-Sectional Studies Otorhinolaryngology Medical genetics Female Functional Neurogenomics [DCN 2] Presbycusis/genetics 030217 neurology & neurosurgery Chromosomes Human Pair 8 Immunity infection and tissue repair [NCMLS 1] |
| Zdroj: | American Journal of Human Genetics, 83, 3, pp. 401-7 American Journal of Human Genetics, 83, 401-7 The American journal of human genetics |
| ISSN: | 0002-9297 |
| Popis: | Contains fulltext : 70189.pdf (Publisher’s version ) (Closed access) 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. |
| Databáze: | OpenAIRE |
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