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Praveen, Kavita; Dobbyn, Lee; Gurski, Lauren; Ayer, Ariane H.; Staples, Jeffrey; Mishra, Shawn; Bai, Yu; Kaufman, Alexandra; Moscati, Arden; Benner, Christian; Chen, Esteban; Chen, Siying; Popov, Alexander; Smith, Janell; Adams, Lance J.; Blank, Jackie; Bodian, Dale; Boris, Derek; Buchanan, Adam; Carey, David J.; Colonie, Ryan D.; Davis, F. Daniel; Hartzel, Dustin N.; Kelly, Melissa; [...]

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

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  • Medientyp: E-Artikel
  • Titel: Population-scale analysis of common and rare genetic variation associated with hearing loss in adults
  • Beteiligte: Praveen, Kavita; Dobbyn, Lee; Gurski, Lauren; Ayer, Ariane H.; Staples, Jeffrey; Mishra, Shawn; Bai, Yu; Kaufman, Alexandra; Moscati, Arden; Benner, Christian; Chen, Esteban; Chen, Siying; Popov, Alexander; Smith, Janell; Adams, Lance J.; Blank, Jackie; Bodian, Dale; Boris, Derek; Buchanan, Adam; Carey, David J.; Colonie, Ryan D.; Davis, F. Daniel; Hartzel, Dustin N.; Kelly, Melissa; [...]
  • Erschienen: Springer Science and Business Media LLC, 2022
  • Erschienen in: Communications Biology
  • Sprache: Englisch
  • DOI: 10.1038/s42003-022-03408-7
  • ISSN: 2399-3642
  • Schlagwörter: General Agricultural and Biological Sciences ; General Biochemistry, Genetics and Molecular Biology ; Medicine (miscellaneous)
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>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 <jats:italic>COL9A3</jats:italic> and <jats:italic>TMPRSS3</jats:italic>. 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 <jats:italic>GJB2</jats:italic> (Gly12fs; odds ratio [OR] = 1.21, <jats:italic>P</jats:italic> = 4.2 × 10<jats:sup>−11</jats:sup>) and <jats:italic>SLC26A5</jats:italic> (gene burden; OR = 1.96, <jats:italic>P</jats:italic> = 2.8 × 10<jats:sup>−17</jats:sup>). We also identified hearing loss associations with rare coding variants in <jats:italic>FSCN2</jats:italic> (OR = 1.14, <jats:italic>P</jats:italic> = 1.9 × 10<jats:sup>−15</jats:sup>) and <jats:italic>KLHDC7B</jats:italic> (OR = 2.14, <jats:italic>P</jats:italic> = 5.2 × 10<jats:sup>−30</jats:sup>). 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.</jats:p>
  • Zugangsstatus: Freier Zugang