Dataset Information

Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability.

ABSTRACT: 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.

SUBMITTER: Concas MP

PROVIDER: S-EPMC8394865 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature

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Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability.

Concas Maria Pina MP Morgan Anna A Serra Fabrizio F Nagtegaal Andries Paul AP Oosterloo Berthe C BC Seshadri Sudha S Heard-Costa Nancy N Van Camp Guy G Fransen Erik E Francescatto Margherita M Logroscino Giancarlo G Sardone Rodolfo R Quaranta Nicola N Gasparini Paolo P Girotto Giorgia G

Genes 20210810 8

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. Th ...[more]

PMID: 34440402

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Dataset Information

Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability.

Publications

Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability.

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