The manuscript by Girotto et al. describes the discovery of new genes and pathways that underlie normal hearing function. The strategy applied combines the power of studying isolated populations with a) a general screening of hearing function, b) high-throughput SNP analysis, c) Genome Wide Association Studies (GWAS), and d) up-to-date in silico pathways construction. Data have been obtained on 3417 individuals coming from 6 different European isolated populations and have been also used to construct a highly significant “in silico” pathway for hearing function. These extremely interesting and promising findings need further validation and/or replica in other populations/cohorts. (By Paolo Gasparini, http://jmg.bmj.com/content/early/2011/04/14/jmg.2010.088310.abstract?papetoc )
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways
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