Thorax 69:474-480 doi:10.1136/thoraxjnl-2013-204640
  • Review

The promise of translational and personalised approaches for paediatric obstructive sleep apnoea: an ‘Omics’ perspective

  1. David Gozal2
  1. 1Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK
  2. 2Sections of Pediatric Sleep Medicine and Pediatric Pulmonology, Department of Pediatrics, Comer Children's Hospital, Pritzker School of Medicine, The University of Chicago, Chicago, Illinois, USA
  1. Correspondence to Professor David Gozal, Department of Pediatrics, Pritzker School of Medicine, The University of Chicago, 5721 S. Maryland Avenue/MC8000, Chicago, IL 60637–1470, USA; dgozal{at}
  • Received 6 October 2013
  • Revised 17 December 2013
  • Accepted 30 January 2014
  • Published Online First 18 February 2014


Obstructive sleep apnoea (OSA) can result in significant morbidities including the cardiovascular, metabolic and neurocognitive systems. These effects are purportedly mediated via activation of inflammatory cascades and the induction of oxidative stress, ultimately resulting in cellular injury and dysfunction. While great advances have been made in sleep medicine research in the past decades, there are still wide gaps in our knowledge concerning the exact underlying pathophysiological mechanisms of OSA and consequences. Without resolving these issues, the reasons why patients with a similar severity of OSA can have markedly different clinical presentation and end-organ morbidity, that is, phenotype, will continue to remain elusive. This review aims to highlight the recent exciting discoveries in genotype-phenotype interactions, epigenetics, genomics and proteomics related to OSA. Just as PCR revolutionised the field of genetics, the potential power of ‘Omics’ promises to transform the field of sleep medicine, and provide critical insights into the downstream pathological cascades inherent to OSA, thereby enabling personalised diagnosis and management for this highly prevalent sleep disorder.

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