López-Escamez José Antonio
Grupo de Otologia & Otoneurología, Centro de Genómica e Investigación Oncológica Pfizer-Universidad de Granada- Junta de Andalucia, España.
Acta Otorrinolaringol Esp. 2012 Nov-Dec;63(6):470-9. doi: 10.1016/j.otorri.2011.04.003. Epub 2011 Jun 23.
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.
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.
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.
基因组医学研究决定复杂疾病易感性的基因标记组。本综述旨在向临床耳鼻喉科医生介绍基因组学。总结了近年来在基因分型和测序技术方面的进展，这些进展推动了对常见听力损失病因的全基因组关联研究。
在PubMed中设计了一种检索策略，使用以下关键词：（基因或基因组学或全基因组关联研究或高通量）以及（听力损失或慢性中耳炎或年龄相关性听力损失或耳硬化症或梅尼埃病），检索过去5年的文献。共获得1846篇参考文献。经过人类研究筛选以及以英文作为发表语言的筛选后，对1295篇摘要进行评估，选出58篇论文。
介绍了人类基因组测序在基因组结构知识、DNA变异性以及序列中结构变异导致疾病的意义方面的影响。测序技术的发展决定了基因关联研究的设计和实施。最后，我们展示了针对常见耳部疾病病因进行的基因关联研究。
