The phenotype and genotype of adult obstructive sleep apnoea/hypopnoea syndrome

Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is a common condition affecting ∼2-4% of the middle-aged population. A hereditary component to the condition has long been recognised but its genetic basis has been difficult to elucidate. Progress in determining the genotype of OSAHS is hampered by the lack of a consistent definition of phenotype and the large environmental influences on its expression. "Intermediate phenotypes", such as craniofacial structure, obesity and upper airway control, have been utilised. Multiple gene polymorphisms have been explored in association with the latter, as well as with the sequelae of OSAHS, such as hypertension and increased insulin resistance. To date, two genome-wide scans have identified potential regions that may be of interest in further defining the intermediate phenotypes. The present paper focuses on human studies with an update of the most recent work in the area, including a short discussion on methods of genetic studies. Copyright©ERS Journals Ltd 2009.