Cutting the fat: advances and challenges in sleep apnoea genetics. Issue 5 (6th May 2021)

• Record Type: Journal Article
• Authors: Wang, Heming; Goodman, Matthew O.; Sofer, Tamar; Redline, Susan
• Is Part Of: European respiratory journal. Volume 57:Issue 5(2021)
• Publication Date: 2021-05-06
• Subjects: Respiratory organs -- Diseases -- Periodicals; Respiration -- Periodicals; 616.2
• DOI: 10.1183/13993003.04644-2020
• Languages: English
• ISSNs: 0903-1936

Abstract

Obstructive sleep apnoea (OSA), characterised by recurrent upper airway obstruction, intermittent hypoxia and fragmented sleep, affects >15% of the adult population, with prevalence increasing markedly with advancing age and age-related cardiometabolic and pulmonary disorders [1]. Causal associations between OSA and hypertension, coronary heart disease, diabetes, heart failure, atrial fibrillation, stroke and mortality are suggested by numerous large prospective studies [2], raising the possibility that effective treatment of OSA might provide a novel strategy for primary and secondary prevention of cardiometabolic disease. However, randomised controlled trials have not yet produced evidence that use of a device for splinting the airway ( i.e. continuous positive pressure) improves clinical cardiovascular disease. Multiple potential reasons for these disappointing results have been suggested, ranging from inadequate use of continuous positive pressure due to device intolerance, to exclusion of individuals from the trials who are most susceptible to OSA-related adverse outcomes. It is increasingly evident that there is a need to better identify OSA phenotypes that predict individuals at highest risk for developing chronic disease, as well as the underlying OSA disease mechanisms most amenable to targeted interventions. Comments on a FinnGen sleep apnoea genetics study: need to disambiguate causal and pleiotropic associations with obesity/cardiometabolic diseases and opportunities for biobanks (and deeper phenotyping) to discover new treatments and disease subtypes https://bit.ly/3dntk0I