Hearing function: Identification of new candidate genes further explaining the complexity of this sensory ability

Maria Pina Concas, Anna Morgan, Fabrizio Serra, Andries Paul Nagtegaal, Berthe C. Oosterloo, Sudha Seshadri, Nancy Heard-Costa, Guy Van Camp, Erik Fransen, Margherita Francescatto, Giancarlo Logroscino, Rodolfo Sardone, Nicola Quaranta, Paolo Gasparini, Giorgia Girotto

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


To date, the knowledge of the genetic determinants behind the modulation of hearing ability is relatively limited. To investigate this trait, we performed Genome-Wide Association Study (GWAS) meta-analysis using genotype and audiometric data (hearing thresholds at 0.25, 0.5, 1, 2, 4, and 8 kHz, and pure-tone averages of thresholds at low, medium, and high frequencies) collected in nine cohorts from Europe, South-Eastern USA, Caucasus, and Central Asia, for an overall number of ~9000 subjects. Three hundred seventy-five genes across all nine analyses were tagged by single nucleotide polymorphisms (SNPs) reaching a suggestive p-value (p < 10−5 ). Amongst these, 15 were successfully replicated using a gene-based approach in the independent Italian Salus in the Apulia cohort (n = 1774) at the nominal significance threshold (p < 0.05). In addition, the expression level of the replicated genes was assessed in published human and mouse inner ear datasets. Considering expression patterns in humans and mice, eleven genes were considered particularly promising candidates for the hearing function: BNIP3L, ELP5, MAP3K20, MATN2, MTMR7, MYO1E, PCNT, R3HDM1, SLC9A9, TGFB2, and YTHDC2. These findings represent a further contribution to our understanding of the genetic basis of hearing function and its related diseases.

Original languageEnglish (US)
Article number1228
Issue number8
StatePublished - 2021


  • GWAS
  • Gene expression
  • Hearing
  • Inner ear
  • Meta-analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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