The genetics of sleep disorders

Summary The contribution of genetic components to the pathology of sleep disorders is increasingly recognised as important. Genetic studies have identified genes that may be important in the regulation of circadian rhythms, which in tum determine the time of sleep onset and waking. Recent studies have shown that mutations in hPER2 are associated with autosomal-dominant familial advanced-sleep-phase syndrome. Genetic studies in a canine model of narcolepsy and in knock-out mice have led to the identification of the hypothalamic hypocretin (orexin) neurotransmitter system as a key target for human narcolepsy. The contribution of genetic factors to obstructive sleep apnoea syndrome (OSAS) has led to a better understanding of this complex disorder that may be part of a larger syndrome associated with respiratory, cardiovascular, and metabolic dysfunction. The aim of this review is to discuss the current knowledge on the role of genetic factors in sleep disorders, in particular circadian disorders, narcolepsy, restless-legs syndrome, and OSAS.