Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment
Year: 2019
Type: review
Study design: Observational Study
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.
Source: Scientific Reports
Authors: 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
Institutions: Erasmus MC, Icelandic Heart Association, University of Mississippi Medical Center, University of Trieste, University of Washington, IRCCS Materno Infantile Burlo Garofolo, Framingham Heart Study, University of California, San Francisco, University of Minnesota, University of Pittsburgh, National Institutes of Health, National Institute on Aging, King's College London, University of Antwerp, National Institute on Deafness and Other Communication Disorders, University of Wisconsin–Madison, Albert Einstein College of Medicine, Data Tecnica International (United States), The University of Texas at San Antonio Health Science Center
Language: English
Subfield: Sensory Systems
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $1,790
OpenAlex ID: W2982029879