PT  - JOURNAL ARTICLE
AU  - Giorgia Girotto
AU  - Nicola Pirastu
AU  - Rossella Sorice
AU  - Ginevra Biino
AU  - Harry Campbell
AU  - Adamo P d'Adamo
AU  - Nicholas D Hastie
AU  - Teresa Nutile
AU  - Ozren Polasek
AU  - Laura Portas
AU  - Igor Rudan
AU  - Sheila Ulivi
AU  - Tatijana Zemunik
AU  - Alan F Wright
AU  - Marina Ciullo
AU  - Caroline Hayward
AU  - Mario Pirastu
AU  - Paolo Gasparini
TI  - Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways
AID  - 10.1136/jmg.2010.088310
DP  - 2011 Jun 01
TA  - Journal of Medical Genetics
PG  - 369--374
VI  - 48
IP  - 6
4099  - http://jmg.bmj.com/content/48/6/369.short
4100  - http://jmg.bmj.com/content/48/6/369.full
SO  - J Med Genet2011 Jun 01; 48
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.