Accès ouvert déclaré
2022
article
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults
Kavita Praveen, Lee Dobbyn, Lauren Gurski, Ariane Ayer, Jeffrey Staples, Shawn Mishra, Yu Bai, Alexandra Kaufman, Arden Moscati, Christian Benner, Esteban Chen, Siying Chen, А. В. Попов, Janell Smith, Lance J. Adams, Jackie Blank, Dale L. Bodian, Derek Boris, Adam H. Buchanan, David J. Carey, Ryan Colonie, F. Daniel Davis, Dustin N. Hartzel, Melissa Kelly, H. Lester Kirchner, Joseph B. Leader, David H. Ledbetter, J. Neil Manus, Christa Lese Martin, Raghu Metpally, Michelle N. Meyer, Tooraj Mirshahi, Matthew T. Oetjens, Thomas N. Person, Christopher D. Still, Natasha T. Strande, Amy C. Sturm, Jen Wagner, Marc S. Williams, Giovanni Coppola, Andrew Deubler, Aris N. Economides, Luca A. Lotta, Jeffrey G. Reid, Alan R. Shuldiner, Katia Karalis, Katherine Siminovitch, Christina Beechert, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Michael Lattari, Alexander Lopez, Thomas D. Schleicher, Maria Sotiropoulos Padilla, Louis Widom, Sarah E. Wolf, Manasi Pradhan, Kia Manoochehri, Ricardo H. Ulloa, Xiaodong Bai, Suganthi Balasubramanian, Boris Boutkov, Gisu Eom, Lukas Habegger, Alicia Hawes, Shareef Khalid, Olga Krasheninina, Rouel Lanche, Adam J. Mansfield, Evan K. Maxwell, Mona Nafde, Sean O’Keeffe, Max Orelus, Razvan Panea, Tommy Polanco, Ayesha Rasool, William Salerno, Nilanjana Banerjee, Dadong Li, Deepika Sharma, Ashish Yadav, Alessandro Di Gioia, Sahar Gelfman, Jason Mighty, Michelle G. LeBlanc, Lyndon J. Mitnaul, Joe Burns, David Frendewey, Scott F. Gallagher, John Lee, John Keilty, Christos A. Kyratsous, Lynn E. Macdonald, Adam T. Palermo, Leah R. Sabin, Jonathon P. Whitton, Brian Zambrowicz, Sarah Deng, Geoff Horwitz, Alejandra King, Jung‐Hoon Sung, Olle Melander, Marcus B. Jones, Jonathan Marchini, Meghan C. Drummond, Gonçalo R. Abecasis, Manuel A. R. Ferreira, Eli A. Stahl
36Citations signalées, ce qui n’est pas une note de qualité
5Institutions déclarées
2Pays d’affiliation déclarés
Rattachement africain : us, se.
Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Abstract To better understand the genetics of hearing loss, we performed a genome-wide association meta-analysis with 125,749 cases and 469,497 controls across five cohorts. We identified 53/c loci affecting hearing loss risk, including common coding variants in COL9A3 and TMPRSS3 . Through exome sequencing of 108,415 cases and 329,581 controls, we observed rare coding associations with 11 Mendelian hearing loss genes, including additive effects in known hearing loss genes GJB2 (Gly12fs; odds ratio [OR] = 1.21, P = 4.2 × 10 −11 ) and SLC26A5 (gene burden; OR = 1.96, P = 2.8 × 10 −17 ). We also identified hearing loss associations with rare coding variants in FSCN2 (OR = 1.14, P = 1.9 × 10 −15 ) and KLHDC7B (OR = 2.14, P = 5.2 × 10 −30 ). Our results suggest a shared etiology between Mendelian and common hearing loss in adults. This work illustrates the potential of large-scale exome sequencing to elucidate the genetic architecture of common disorders where both common and rare variation contribute to risk.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Population-scale analysis of common and rare genetic variation associated with hearing loss in adults
- Date Crossref
- 03/06/2022
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Les institutions déclarées
Une affiliation ne permet pas de déduire la nationalité d’un auteur.
Les sujets associés
Hearing, Cochlea, Tinnitus, GeneticsHearing Loss and RehabilitationEar Surgery and Otitis Media