Communications Biology (Jun 2022)

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

  • Kavita Praveen,
  • Lee Dobbyn,
  • Lauren Gurski,
  • Ariane H. Ayer,
  • Jeffrey Staples,
  • Shawn Mishra,
  • Yu Bai,
  • Alexandra Kaufman,
  • Arden Moscati,
  • Christian Benner,
  • Esteban Chen,
  • Siying Chen,
  • Alexander Popov,
  • Janell Smith,
  • GHS-REGN DiscovEHR collaboration,
  • Regeneron Genetics Center,
  • Decibel-REGN collaboration,
  • Olle Melander,
  • Marcus B. Jones,
  • Jonathan Marchini,
  • Suganthi Balasubramanian,
  • Brian Zambrowicz,
  • Meghan C. Drummond,
  • Aris Baras,
  • Goncalo R. Abecasis,
  • Manuel A. Ferreira,
  • Eli A. Stahl,
  • Giovanni Coppola

DOI
https://doi.org/10.1038/s42003-022-03408-7
Journal volume & issue
Vol. 5, no. 1
pp. 1 – 12

Abstract

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A GWAS and exome-wide association study meta-analysis identifies 53 loci affecting hearing loss risk from over half a million individuals across five cohorts. Rare variants in Mendelian hearing loss genes contribute to hearing loss risk in adults.