Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment
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 p...
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Nature Portfolio
2019
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oai:doaj.org-article:7621b23b386a4927bee2760a734941862021-12-02T15:08:19ZGenome-wide association meta-analysis identifies five novel loci for age-related hearing impairment10.1038/s41598-019-51630-x2045-2322https://doaj.org/article/7621b23b386a4927bee2760a734941862019-10-01T00:00:00Zhttps://doi.org/10.1038/s41598-019-51630-xhttps://doaj.org/toc/2045-2322Abstract 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.Andries Paul NagtegaalLinda BroerNuno R. ZilhaoJohanna JakobsdottirCharles E. BishopMarco BrumatMark W. ChristiansenMassimiliano CoccaYan GaoNancy L. Heard-CostaDaniel S. EvansNathan PankratzSheila R. PrattT. Ryan PriceChristopher SpankovichMary R. StimsonKaren ValleDragana VuckovicHelena WellsGudny EiriksdottirErik FransenMohammad Arfan IkramChuang-Ming LiW. T. LongstrethClaire StevesGuy Van CampAdolfo CorreaKaren J. CruickshanksPaolo GaspariniGiorgia GirottoRobert C. KaplanMichael NallsJohn M. SchweinfurthSudha SeshadriNona SotoodehniaGregory J. TranahAndré G. UitterlindenJames G. WilsonVilmundur GudnasonHoward J. HoffmanFrances M. K. WilliamsAndré GoedegebureNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 9, Iss 1, Pp 1-10 (2019) |
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DOAJ |
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EN |
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Medicine R Science Q |
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Medicine R Science Q 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 Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Andries Paul Nagtegaal |
| title |
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment |
| title_short |
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment |
| title_full |
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment |
| title_fullStr |
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment |
| title_full_unstemmed |
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment |
| title_sort |
genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/7621b23b386a4927bee2760a73494186 |
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