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Obstructive Sleep Apnea and Genes
Surya Kant, M.D., Harshita Gupta, M.Sc., S.M.Natu, Ph.D, Pooran Chand, M.D.S, and Saumendra Vikram Singh, M.D.S
Obstructive sleep apnea (OSA) is a disorder in which complete or partial obstruction of the airway during sleep causes loud snoring, oxyhemoglobin desaturation, and frequent arousals. As a result, affected persons have unrestful sleep and excessive daytime sleepiness. Potential genetic interaction between obesity and OSA phenotypes is one in which a particular polymorphism leads to both obesity and OSA through independent mechanisms. Reductions in serotoninergic activity, by increasing appetite, could promote obesity and by lowering muscle tone in the upper airway, promote OSA. Presence of the arginine 64 allele of the ß3-adrenergic receptor gene does not increase the risk of OSA syndrome, but is associated with the development of obesity in those patients who suffer OSA syndrome. Both shared and unshared genetic factors underlying susceptibility to OSA and obesity, and the genetic determinants of obesity in this population may be modulated by apnea severity. Other genetic loci reviewed likely interact with obesity to influence development of OSA in a gene-by-environment type of effect. Conversely, environmental stressors, such as intermittent hypoxia and sleep fragmentation produced by OSA, may interact with obesity susceptibility genes to modulate the importance that these loci have on defining obesity-related traits.
| Keywords: Obstructive sleep apnea, excessive daytime sleepiness, phenotypes, genetic loci |
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