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

doi:10.1038/s42003-022-03408-7

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Article

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

Communications biology - 3 Jun 2022

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, Melander Olle, Jones Marcus B, Marchini Jonathan, Balasubramanian Suganthi, Zambrowicz Brian, Drummond Meghan C, Baras Aris, Abecasis Goncalo R, Ferreira Manuel A, Stahl Eli A, Coppola Giovanni

Abstract excerpt

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,...

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PMID: 35661827
DOI: 10.1038/s42003-022-03408-7
PMCID: PMC9166757

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