The genetics of obstructive sleep apnoea

Area of Science:

• Genetics
• Sleep Medicine
• Cardiovascular Health

Background:

• Obstructive sleep apnoea syndrome (OSAS) is common, impacting quality of life and leading to cardiovascular and metabolic issues.
• Research is increasingly focused on the genetic underpinnings of OSAS and its related health problems.

Purpose of the Study:

• To review emerging evidence on the genetic contribution to obstructive sleep apnoea syndrome (OSAS).
• To explore the genetic basis of OSAS sequelae, including cardiovascular and metabolic complications.

Main Methods:

• Review of current scientific literature on genetics and OSAS.
• Analysis of studies investigating heritability of OSAS phenotypes and genetic polymorphisms.
• Examination of research on genetic links to OSAS-related cardiovascular and metabolic conditions.

Main Results:

• A genetic basis for sleep-disordered breathing is established for some syndromes, but is less clear for idiopathic OSAS.
• Heritability is likely in intermediate phenotypes like craniofacial morphology, but evidence for specific gene polymorphisms in OSAS is sparse and contradictory.
• Research on cardiovascular sequelae of OSAS has not consistently identified single causative genetic mutations, though TNF-α polymorphisms and shared pathways with obesity are suggested.

Conclusions:

• OSAS likely arises from complex gene-gene interactions within an environmental context.
• Advanced genetic techniques like genome-wide association studies are expected to drive future discoveries in OSAS genetics.