BACKGROUND: Hearing is a complex trait, but until now only a few genes are known to contribute to variability of this process. In order to discover genes and pathways that underlie auditory function, a genome-wide association study was carried out within the International Consortium G-EAR. METHODS: Meta-analysis of genome-wide association study's data from six isolated populations of European ancestry for an overall number of 3417 individuals. RESULTS: Eight suggestive significant loci (p<10(-7)) were detected with a series of genes expressed within the inner ear such as: DCLK1, PTPRD, GRM8, CMIP. Additional biological candidates marked by a single nucleotide polymorphism (SNP) with a suggestive association (p<10(-6)) were identified, as well as loci encompassing 'gene desert regions'-genes of unknown function or genes whose function has not be linked to hearing so far. Some of these new loci map to already known hereditary hearing loss loci whose genes still need to be identified. Data have also been used to construct a highly significant 'in silico' pathway for hearing function characterised by a network of 49 genes, 34 of which are certainly expressed in the ear. CONCLUSION: These results provide new insights into the molecular basis of hearing function and may suggest new targets for hearing impairment treatment and prevention.
BACKGROUND: Hearing is a complex trait, but until now only a few genes are known to contribute to variability of this process. In order to discover genes and pathways that underlie auditory function, a genome-wide association study was carried out within the International Consortium G-EAR. METHODS: Meta-analysis of genome-wide association study's data from six isolated populations of European ancestry for an overall number of 3417 individuals. RESULTS: Eight suggestive significant loci (p<10(-7)) were detected with a series of genes expressed within the inner ear such as: DCLK1, PTPRD, GRM8, CMIP. Additional biological candidates marked by a single nucleotide polymorphism (SNP) with a suggestive association (p<10(-6)) were identified, as well as loci encompassing 'gene desert regions'-genes of unknown function or genes whose function has not be linked to hearing so far. Some of these new loci map to already known hereditary hearing loss loci whose genes still need to be identified. Data have also been used to construct a highly significant 'in silico' pathway for hearing function characterised by a network of 49 genes, 34 of which are certainly expressed in the ear. CONCLUSION: These results provide new insights into the molecular basis of hearing function and may suggest new targets for hearing impairment treatment and prevention.
Authors: Erik Fransen; Sarah Bonneux; Jason J Corneveaux; Isabelle Schrauwen; Federica Di Berardino; Cory H White; Jeffrey D Ohmen; Paul Van de Heyning; Umberto Ambrosetti; Matthew J Huentelman; Guy Van Camp; Rick A Friedman Journal: Eur J Hum Genet Date: 2014-06-18 Impact factor: 4.246
Authors: Nicola Pirastu; Maarten Kooyman; Michela Traglia; Antonietta Robino; Sara M Willems; Giorgio Pistis; Najaf Amin; Cinzia Sala; Lennart C Karssen; Cornelia M van Duijn; Daniela Toniolo; Paolo Gasparini Journal: Eur J Hum Genet Date: 2015-03-11 Impact factor: 4.246
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Authors: Ginevra Biino; Iolanda Santimone; Cosetta Minelli; Rossella Sorice; Bruno Frongia; Michela Traglia; Sheila Ulivi; Augusto Di Castelnuovo; Martin Gögele; Teresa Nutile; Marcella Francavilla; Cinzia Sala; Nicola Pirastu; Chiara Cerletti; Licia Iacoviello; Paolo Gasparini; Daniela Toniolo; Marina Ciullo; Peter Pramstaller; Mario Pirastu; Giovanni de Gaetano; Carlo L Balduini Journal: PLoS One Date: 2013-01-31 Impact factor: 3.240
Authors: Helena R R Wells; Maxim B Freidin; Fatin N Zainul Abidin; Antony Payton; Piers Dawes; Kevin J Munro; Cynthia C Morton; David R Moore; Sally J Dawson; Frances M K Williams Journal: Am J Hum Genet Date: 2019-09-26 Impact factor: 11.025