Genetics Aspects of the Obstructive Sleep Apnea/Hypopnea Syndrome

摘要

Obstructive sleep apnea/hypopnea syndrome is a common condition affecting approximately 0.3-4% of the middle-aged population. A hereditary component to the condition has long been identified but the genetic basis has been difficult to elucidate. Not least of the difficulties resides in a single definition of the phenotype. In an attempt to unravel some of the components, which might contribute to the expression of the syndrome,'intermediate phenotypes' such as craniofacial structure, obesity and upper airway control have been utilized. A number of gene polymorphisms have been explored in association with these and two genome-wide scans have identified potential regions, which may be of interest in further defining the 'intermediate phenotypes'. This chapter focuses largely on human studies with an update on the most recent work in the area.