Approved Research

Characterization of genetic and phenotypic of obstructive sleep apnea and the potential risk factor of stroke.

Lay summary

Sleep-disordered breathing is a multiple phenotypes disorder that influence healthy status. The American Academy of Sleep Medicine (AASM) divided sleep disordered breathing into five categories, with obstructive sleep apnea (OSA) being the most common type. The most common complications of OSA are hypertension (75.9%), obesity (74.2%) and diabetes (34.1%), and it's also a risk factor for multiple cardiovascular diseases, cognitive deficit, and stroke, the occurrence and development of OSA is closely related to complicated environment and living habits, as well as to genetic variation. Genome-Wide Association Studies (GWAS) revealed the genetic characteristics of sleep apnea, suggesting a link between sleep and genes. With the increasing prevalence of OSA, the risk of disease, disease-related phenotypes and genetic variation loci can be more detailed studied in different populations.

Exploring phenotypic features of OSA based on epidemiological data and constructing a casual-effect network of risk factors is critical. By integrating the phenotypic and genomic data of OSA population in the UK and China, we would find the phenotypic and genetic association in different population and compare the difference in both populations, identify the risk factors of OSA. Continuous Positive Airway (CPAP) Pressure is the optimal management of OSA, which can reduce cumulative incidence of stroke patients with OSA. What's more, we observed some stroke patients also be diagnosed with OSA. CPAP for patients with OSA and stroke can treat both diseases at the same time, but CPAP requires at least 4h per night, so it is difficult to guarantee the treatment compliance. If more phenotypic associations can be found between the two diseases, it is hoped that more treatments could be developed.

We wish to study the potential association and risk factors between stroke and OSA. So as to broaden the means to promote the prevention, diagnosis, treatment and prognosis of OSA and stroke.