[Role of genomic medicine in middle and inner ear diseases]

Abstract

Introduction and objectives: Genomic medicine investigates groups of genetic markers that determine susceptibility for complex diseases. The aim of this review was to introduce genomics to the clinical otorhinolaryngologist. Technological advances in genotyping and sequencing that have facilitated genome-wide association studies in common causes of hearing loss during the last years are summarised.

Methods: A search strategy in PubMed was designed using the following keywords: (gene OR genomics OR GWAS OR high throughput) AND (hearing loss OR chronic otitis media OR age-related hearing loss OR otosclerosis OR Meniere's disease) during the last 5 years. A total of 1,846 references were obtained. After filtering by human studies and English as the language of publication, 1,295 summaries were evaluated, selecting 58 papers.

Results: The impact of sequencing the human genome in the knowledge of genome architecture, DNA variability and the significance of structural variations in the sequence to cause diseases is presented. The evolution of sequencing technology has determined the design and performance of genetic association studies. Finally, we present genetic association studies performed in common causes of ear diseases.