RT Journal Article SR Electronic T1 Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 369 OP 374 DO 10.1136/jmg.2010.088310 VO 48 IS 6 A1 Giorgia Girotto A1 Nicola Pirastu A1 Rossella Sorice A1 Ginevra Biino A1 Harry Campbell A1 Adamo P d'Adamo A1 Nicholas D Hastie A1 Teresa Nutile A1 Ozren Polasek A1 Laura Portas A1 Igor Rudan A1 Sheila Ulivi A1 Tatijana Zemunik A1 Alan F Wright A1 Marina Ciullo A1 Caroline Hayward A1 Mario Pirastu A1 Paolo Gasparini YR 2011 UL http://jmg.bmj.com/content/48/6/369.abstract AB 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.