Scientific Reports (Oct 2019)
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment
- Andries Paul Nagtegaal,
- Linda Broer,
- Nuno R. Zilhao,
- Johanna Jakobsdottir,
- Charles E. Bishop,
- Marco Brumat,
- Mark W. Christiansen,
- Massimiliano Cocca,
- Yan Gao,
- Nancy L. Heard-Costa,
- Daniel S. Evans,
- Nathan Pankratz,
- Sheila R. Pratt,
- T. Ryan Price,
- Christopher Spankovich,
- Mary R. Stimson,
- Karen Valle,
- Dragana Vuckovic,
- Helena Wells,
- Gudny Eiriksdottir,
- Erik Fransen,
- Mohammad Arfan Ikram,
- Chuang-Ming Li,
- W. T. Longstreth,
- Claire Steves,
- Guy Van Camp,
- Adolfo Correa,
- Karen J. Cruickshanks,
- Paolo Gasparini,
- Giorgia Girotto,
- Robert C. Kaplan,
- Michael Nalls,
- John M. Schweinfurth,
- Sudha Seshadri,
- Nona Sotoodehnia,
- Gregory J. Tranah,
- André G. Uitterlinden,
- James G. Wilson,
- Vilmundur Gudnason,
- Howard J. Hoffman,
- Frances M. K. Williams,
- André Goedegebure
Affiliations
- Andries Paul Nagtegaal
- Department of Otorhinolaryngology, Erasmus Medical Center
- Linda Broer
- Department of Internal Medicine, Erasm us Medical Center
- Nuno R. Zilhao
- Icelandic Heart Association
- Johanna Jakobsdottir
- Icelandic Heart Association
- Charles E. Bishop
- Department of Otolaryngology and Communicative Sciences, The University of Mississippi Medical Center
- Marco Brumat
- Department of Medicine, Surgery and Health Sciences, University of Trieste
- Mark W. Christiansen
- Cardiovascular Health Research Unit, University of Washington
- Massimiliano Cocca
- Medical Genetics, Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”
- Yan Gao
- Department of Physiology and Biophysics, The University of Mississippi Medical Center
- Nancy L. Heard-Costa
- NHLBI Framingham Heart Study
- Daniel S. Evans
- Department of Epidemiology and Biostatistics, University of California
- Nathan Pankratz
- Department of Laboratory Medicine and Pathology, University of Minnesota
- Sheila R. Pratt
- Department of Communication Science & Disorders, University of Pittsburgh
- T. Ryan Price
- Laboratory of Neurogenetics, National Institute on Aging
- Christopher Spankovich
- Department of Otolaryngology and Communicative Sciences, The University of Mississippi Medical Center
- Mary R. Stimson
- Department of Laboratory Medicine and Pathology, University of Minnesota
- Karen Valle
- Jackson Heart Study
- Dragana Vuckovic
- Department of Medicine, Surgery and Health Sciences, University of Trieste
- Helena Wells
- Department of Twin Research and Genetic Epidemiology, King’s College London
- Gudny Eiriksdottir
- Icelandic Heart Association
- Erik Fransen
- Center for Medical Genetics, University of Antwerp
- Mohammad Arfan Ikram
- Department of Epidemiology, Erasmus Medical Center
- Chuang-Ming Li
- Epidemiology and Statistics Program, Division of Scientific Programs, National Institute on Deafness and Other Communication Disorders (NIDCD) National Institutes of Health (NIH)
- W. T. Longstreth
- Departments of Neurology and Epidemiology, University of Washington
- Claire Steves
- Department of Twin Research and Genetic Epidemiology, King’s College London
- Guy Van Camp
- Center for Medical Genetics, University of Antwerp
- Adolfo Correa
- Jackson Heart Study
- Karen J. Cruickshanks
- Departments of Ophthalmology and Visual Sciences and Population Health Sciences, University of Wisconsin
- Paolo Gasparini
- Department of Medicine, Surgery and Health Sciences, University of Trieste
- Giorgia Girotto
- Department of Medicine, Surgery and Health Sciences, University of Trieste
- Robert C. Kaplan
- Department of Epidemiology and Population Health, Albert Einstein College of Medicine
- Michael Nalls
- Data Tecnica International
- John M. Schweinfurth
- Department of Otolaryngology and Communicative Sciences, The University of Mississippi Medical Center
- Sudha Seshadri
- Glenn Biggs Institute for Alzheimer’s & Neurodegenerative Diseases, UT Health
- Nona Sotoodehnia
- Cardiovascular Health Research Unit, University of Washington
- Gregory J. Tranah
- Department of Epidemiology and Biostatistics, University of California
- André G. Uitterlinden
- Department of Internal Medicine, Erasm us Medical Center
- James G. Wilson
- Department of Physiology and Biophysics, The University of Mississippi Medical Center
- Vilmundur Gudnason
- Icelandic Heart Association
- Howard J. Hoffman
- Epidemiology and Statistics Program, Division of Scientific Programs, National Institute on Deafness and Other Communication Disorders (NIDCD) National Institutes of Health (NIH)
- Frances M. K. Williams
- Department of Twin Research and Genetic Epidemiology, King’s College London
- André Goedegebure
- Department of Otorhinolaryngology, Erasmus Medical Center
- DOI
- https://doi.org/10.1038/s41598-019-51630-x
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 10
Abstract
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.
