Genetic aspects of OSA in adults and children

Obstructive sleep apnoea (OSA) is known to be hereditary but a number of environmental and developmental factors can affect its expression, e. g. obesity, hormonal changes, nasal occlusion and lymphoid tissue growth.

For this reason, OSA is generally considered to be a sum of its component parts with relative contributions in each individual from craniofacial morphology, susceptibility to sleepiness, ventilatory control, obesity, upper airway control and lymphoid tissue overgrowth.

The phenotypic complexity of OSA makes establishment of a single genetic basis elusive. Furthermore, unlike other polygenic disease models, such as chronic obstructive pulmonary disease, asthma and hypertension, funding for studies in OSA has been limited. A number of genetic approaches have been utilised, including genome-wide studies, case-control studies and genome-wide association studies. The results of these demonstrate our first tentative, but hopeful, steps of uncovering some of the markers of disease expression, as well as disease progression.

Future efforts aimed at exploring the sequelae of OSA and possible genetic modulators of these are more likely to yield clinically useful data, which will ultimately result in improved patient care.