The genetic epidemiology of obstructive sleep apnea and its inter-relationship with cardiovascular and metabolic co-morbidities

This thesis describes both the establishment of the Western Australian (WA) Sleep Health Study (WASHS) as a clinical, epidemiological and genetic resource for research into sleep disorders, and the linkage of sleep data (from all patients referred to the largest WA adult sleep clinic) to WA Department of Health (DoHWA) linked health data. Using this rich data resource, the thesis describes the subsequent investigation of environmental and genetic factors associated with obstructive sleep apnea (OSA) pathogenesis, with a focus on adult OSA and its relationship to cardiovascular disease (CVD) and metabolic disorders. OSA is a complex disease which is increasingly prevalent in the general community. It is a significant health burden, and is associated with many adverse co-morbidities including CVD, metabolic syndrome and other associated metabolic disorders. A major focus of this thesis included an investigation of key factors related to OSA severity and susceptibility, and more specifically, the interconnection between OSA and CVD outcomes. Both OSA and CVD have a multifactorial etiology involving both genetic and environmental factors. OSA-associated phenotypes and their determinants interact in complex ways to produce clinical complications of OSA. Despite much recent progress, the genetic epidemiology of OSA and associated comorbidities (especially that of CVD) remains to be fully defined.