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

Praveen, Kavita ; Dobbyn, Lee ; Gurski, Lauren ; Ayer, Ariane H. ; Staples, Jeffrey ; Mishra, Shawn ; Bai, Yu ; Kaufman, Alexandra ; Moscati, Arden and Benner, Christian , et al. (2022) In Communications Biology 5(1). p.540-540
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... (More)

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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author collaboration
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Communications Biology
volume
5
issue
1
pages
1 pages
publisher
Nature Publishing Group
external identifiers
  • pmid:35661827
  • scopus:85131701650
ISSN
2399-3642
DOI
10.1038/s42003-022-03408-7
language
English
LU publication?
yes
id
3faf1bd7-bbef-4560-a4ed-147e5e9b20d0
date added to LUP
2022-10-28 11:22:50
date last changed
2024-04-18 15:19:05
@article{3faf1bd7-bbef-4560-a4ed-147e5e9b20d0,
  abstract     = {{<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 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.</p>}},
  author       = {{Praveen, Kavita and Dobbyn, Lee and Gurski, Lauren and Ayer, Ariane H. and Staples, Jeffrey and Mishra, Shawn and Bai, Yu and Kaufman, Alexandra and Moscati, Arden and Benner, Christian and Chen, Esteban and Chen, Siying and Popov, Alexander and Smith, Janell and Melander, Olle and Jones, Marcus B. and Marchini, Jonathan and Balasubramanian, Suganthi and Zambrowicz, Brian and Drummond, Meghan C. and Baras, Aris and Abecasis, Goncalo R. and Ferreira, Manuel A. and Stahl, Eli A. and Coppola, Giovanni}},
  issn         = {{2399-3642}},
  language     = {{eng}},
  month        = {{06}},
  number       = {{1}},
  pages        = {{540--540}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Communications Biology}},
  title        = {{Population-scale analysis of common and rare genetic variation associated with hearing loss in adults}},
  url          = {{http://dx.doi.org/10.1038/s42003-022-03408-7}},
  doi          = {{10.1038/s42003-022-03408-7}},
  volume       = {{5}},
  year         = {{2022}},
}