Genetic determinants of upper airway structures that predispose to obstructive sleep apnea

Genetic factors are thought to play an important role in human development. Recent data indicate that obstructive sleep apnea may have a genetic basis. Sleep apnea is a very common disorder with significant cardiovascular and neurophysiologic morbidity. The pathogenesis of sleep apnea is related to a reduction in the size of the upper airway. The reduction in airway size is secondary to increased adipose tissue (enlargement of the parapharyngeal fat pads), alterations in craniofacial structure (reduction in mandibular size) and enlargement of the surrounding soft tissue structures (tongue, lateral pharyngeal walls). Genetic factors are one of the factors that have been proposed to mediate the size of each of these anatomic risk factors for sleep apnea. Recent evidence is accumulating about the genetic loci for these structural risk factors that predispose to the development of obstructive sleep apnea.