Update on the genetic basis of obstructive sleep apnoea - hype or hope?

The obstructive sleep apnoea syndrome (OSAS) is a chronic, common condition in western societies which can lead to adverse cardiometabolic effects if left untreated and is one of the commonest causes of excessive daytime somnolence.

The presentation of OSAS is diverse and is thought to comprise of different intermediate phenotypes and endotypes in varying proportions in each individual. Unfortunately, due to its heterogeneity and the changing definitions of the disorder by workers in the field, attempts at revealing the genetic basis of OSAS has been fraught with difficulty.

This brief review presents a short update on the achievements of the past three decades in this understudied and underfunded area of endeavour in respiratory sleep medicine. The genetic underpinnings of OSAS remain elusive.