Evidence map›Paper›PMID 35661827›Full record

SynthesisCommunications biology2022

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 and 18 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Communications biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 3 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

25 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Review
  6. Article
  7. Article
  8. Review
  9. Genetic and functional evidence implicates amedRxiv : the preprint server for health sciences · 2025
    Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Pharmacological Approaches to Hearing Loss.Pharmacological reviews · 2024
    Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

28 authors.

Kavita PraveenRegeneron Genetics Center, Tarrytown, NY, 10591, USA. kavita.praveen@regeneron.com.
Lee DobbynRegeneron Genetics Center, Tarrytown, NY, 10591, USA.
Lauren GurskiRegeneron Genetics Center, Tarrytown, NY, 10591, USA.
Ariane H AyerRegeneron Genetics Center, Tarrytown, NY, 10591, USA.
Jeffrey StaplesRegeneron Genetics Center, Tarrytown, NY, 10591, USA.
Shawn MishraRegeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA.
Yu BaiRegeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA.ORCID 0000-0002-0371-8590
Alexandra KaufmanRegeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA.
Arden MoscatiRegeneron Genetics Center, Tarrytown, NY, 10591, USA.
Christian BennerRegeneron Genetics Center, Tarrytown, NY, 10591, USA.
Esteban ChenRegeneron Genetics Center, Tarrytown, NY, 10591, USA.
Siying ChenRegeneron Genetics Center, Tarrytown, NY, 10591, USA.
Alexander PopovRegeneron Genetics Center, Tarrytown, NY, 10591, USA.
Janell SmithRegeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA.
GHS-REGN DiscovEHR collaboration
Regeneron Genetics Center
Decibel-REGN collaboration
Olle MelanderLund University, Department of Clinical Sciences Malmö, Malmö, Sweden.
Marcus B JonesRegeneron Genetics Center, Tarrytown, NY, 10591, USA.
Jonathan MarchiniRegeneron Genetics Center, Tarrytown, NY, 10591, USA.ORCID 0000-0003-0610-8322
Suganthi BalasubramanianRegeneron Genetics Center, Tarrytown, NY, 10591, USA.
Brian ZambrowiczRegeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA.ORCID 0000-0001-8831-0406
Meghan C DrummondRegeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA.
Aris BarasRegeneron Genetics Center, Tarrytown, NY, 10591, USA.ORCID 0000-0002-6830-3396
Goncalo R AbecasisRegeneron Genetics Center, Tarrytown, NY, 10591, USA.ORCID 0000-0003-1509-1825
Manuel A FerreiraRegeneron Genetics Center, Tarrytown, NY, 10591, USA.ORCID 0000-0001-9059-1825
Eli A StahlRegeneron Genetics Center, Tarrytown, NY, 10591, USA.ORCID 0000-0002-1192-0561
Giovanni CoppolaRegeneron Genetics Center, Tarrytown, NY, 10591, USA. giovanni.coppola@regeneron.com.ORCID 0000-0003-2105-1061

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

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

Indexed as

Genome-Wide Association StudyHearing LossExomeExome SequencingGenetic VariationHumansMembrane ProteinsNeoplasm ProteinsSerine EndopeptidasesMembrane ProteinsNeoplasm ProteinsSerine EndopeptidasesTMPRSS3 protein, human

Identifiers

PMID35661827
PMCPMC9166757

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.