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Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment.
Nagtegaal, Andries Paul; Broer, Linda; Zilhao, Nuno R; Jakobsdottir, Johanna; Bishop, Charles E; Brumat, Marco; Christiansen, Mark W; Cocca, Massimiliano; Gao, Yan; Heard-Costa, Nancy L; Evans, Daniel S; Pankratz, Nathan; Pratt, Sheila R; Price, T Ryan; Spankovich, Christopher; Stimson, Mary R; Valle, Karen; Vuckovic, Dragana; Wells, Helena; Eiriksdottir, Gudny; Fransen, Erik; Ikram, Mohammad Arfan; Li, Chuang-Ming; Longstreth, W T; Steves, Claire; Van Camp, Guy; Correa, Adolfo; Cruickshanks, Karen J; Gasparini, Paolo; Girotto, Giorgia; Kaplan, Robert C; Nalls, Michael; Schweinfurth, John M; Seshadri, Sudha; Sotoodehnia, Nona; Tranah, Gregory J; Uitterlinden, André G; Wilson, James G; Gudnason, Vilmundur; Hoffman, Howard J; Williams, Frances M K; Goedegebure, André.
Afiliación
  • Nagtegaal AP; Department of Otorhinolaryngology, Erasmus Medical Center, 3015 CE, Rotterdam, The Netherlands. a.nagtegaal@erasmusmc.nl.
  • Broer L; Department of Internal Medicine, Erasm us Medical Center, 3015 CE, Rotterdam, The Netherlands.
  • Zilhao NR; Icelandic Heart Association, Holtasmari 1, Kopavogur, IS-201, Iceland.
  • Jakobsdottir J; Icelandic Heart Association, Holtasmari 1, Kopavogur, IS-201, Iceland.
  • Bishop CE; Department of Otolaryngology and Communicative Sciences, The University of Mississippi Medical Center, 2500 North State Street, Jackson, MS, 39216, USA.
  • Brumat M; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
  • Christiansen MW; Cardiovascular Health Research Unit, University of Washington, Seattle, WA, 98195, USA.
  • Cocca M; Medical Genetics, Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
  • Gao Y; Department of Physiology and Biophysics, The University of Mississippi Medical Center, 2500 North State Street, Jackson, MS, 39216, USA.
  • Heard-Costa NL; NHLBI Framingham Heart Study, Framingham, MA, 01702, USA.
  • Evans DS; Department of Epidemiology and Biostatistics, University of California, San Francisco, CA, 94158, USA.
  • Pankratz N; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Pratt SR; Department of Communication Science & Disorders, University of Pittsburgh, 6035 Forbes Tower, Pittsburgh, PA, 15260, USA.
  • Price TR; Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, 20892, USA.
  • Spankovich C; Department of Otolaryngology and Communicative Sciences, The University of Mississippi Medical Center, 2500 North State Street, Jackson, MS, 39216, USA.
  • Stimson MR; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Valle K; Jackson Heart Study, 350 W. Woodrow Wilson Blvd, Suite 701, Jackson, MS, 39213, USA.
  • Vuckovic D; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
  • Wells H; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
  • Eiriksdottir G; Icelandic Heart Association, Holtasmari 1, Kopavogur, IS-201, Iceland.
  • Fransen E; Center for Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43/6, BE-2650, Edegem, Antwerp, Belgium.
  • Ikram MA; Department of Epidemiology, Erasmus Medical Center, 3015 CE, Rotterdam, The Netherlands.
  • Li CM; Epidemiology and Statistics Program, Division of Scientific Programs, National Institute on Deafness and Other Communication Disorders (NIDCD) National Institutes of Health (NIH), Neuroscience Center Building, Suite 8300, 6001 Executive Blvd, Bethesda, MD, 20892, USA.
  • Longstreth WT; Departments of Neurology and Epidemiology, University of Washington, Seattle, WA, 98195, USA.
  • Steves C; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
  • Van Camp G; Center for Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43/6, BE-2650, Edegem, Antwerp, Belgium.
  • Correa A; Jackson Heart Study, 350 W. Woodrow Wilson Blvd, Suite 701, Jackson, MS, 39213, USA.
  • Cruickshanks KJ; Departments of Ophthalmology and Visual Sciences and Population Health Sciences, University of Wisconsin, Madison, WI, 53726, USA.
  • Gasparini P; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
  • Girotto G; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
  • Kaplan RC; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
  • Nalls M; Data Tecnica International, Glen Echo, MD, 20812, USA.
  • Schweinfurth JM; Department of Otolaryngology and Communicative Sciences, The University of Mississippi Medical Center, 2500 North State Street, Jackson, MS, 39216, USA.
  • Seshadri S; Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, UT Health, San Antonio, 78229, TX, USA.
  • Sotoodehnia N; Cardiovascular Health Research Unit, University of Washington, Seattle, WA, 98195, USA.
  • Tranah GJ; Department of Epidemiology and Biostatistics, University of California, San Francisco, CA, 94158, USA.
  • Uitterlinden AG; Department of Internal Medicine, Erasm us Medical Center, 3015 CE, Rotterdam, The Netherlands.
  • Wilson JG; Department of Physiology and Biophysics, The University of Mississippi Medical Center, 2500 North State Street, Jackson, MS, 39216, USA.
  • Gudnason V; Icelandic Heart Association, Holtasmari 1, Kopavogur, IS-201, Iceland.
  • Hoffman HJ; Epidemiology and Statistics Program, Division of Scientific Programs, National Institute on Deafness and Other Communication Disorders (NIDCD) National Institutes of Health (NIH), Neuroscience Center Building, Suite 8300, 6001 Executive Blvd, Bethesda, MD, 20892, USA.
  • Williams FMK; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
  • Goedegebure A; Department of Otorhinolaryngology, Erasmus Medical Center, 3015 CE, Rotterdam, The Netherlands.
Sci Rep ; 9(1): 15192, 2019 10 23.
Article en En | MEDLINE | ID: mdl-31645637
ABSTRACT
Previous research has shown that genes play a substantial role in determining a person's susceptibility to age-related hearing impairment. The existing studies on this subject have different results, which may be caused by difficulties in determining the phenotype or the limited number of participants involved. Here, we have gathered the largest sample to date (discovery n = 9,675; replication n = 10,963; validation n = 356,141), and examined phenotypes that represented low/mid and high frequency hearing loss on the pure tone audiogram. We identified 7 loci that were either replicated and/or validated, of which 5 loci are novel in hearing. Especially the ILDR1 gene is a high profile candidate, as it contains our top SNP, is a known hearing loss gene, has been linked to age-related hearing impairment before, and in addition is preferentially expressed within hair cells of the inner ear. By verifying all previously published SNPs, we can present a paper that combines all new and existing findings to date, giving a complete overview of the genetic architecture of age-related hearing impairment. This is of importance as age-related hearing impairment is highly prevalent in our ageing society and represents a large socio-economic burden.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Envejecimiento / Predisposición Genética a la Enfermedad / Estudio de Asociación del Genoma Completo / Sitios Genéticos / Pérdida Auditiva Tipo de estudio: Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Sci Rep Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Envejecimiento / Predisposición Genética a la Enfermedad / Estudio de Asociación del Genoma Completo / Sitios Genéticos / Pérdida Auditiva Tipo de estudio: Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Sci Rep Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos
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