Genome-Wide Association Studies of Sleep Disorders

Sleep disorders tend to be complex diseases, with multiple genes and environmental factors interacting to contribute to phenotypes. Our understanding of the genetic underpinnings of sleep disorders has benefited from recent genome-wide association studies (GWAS). We review principles underlying GWAS and discuss recent GWAS for restless legs syndrome and narcolepsy. These studies have identified four gene variants associated with restless legs syndrome (BTBD9, MEIS1, MAP2K5/LBXCOR1, and PTPRD) and two variants associated with narcolepsy (one in the T-cell receptor α locus and another between CPT1B and CHKB). These discoveries have opened new lines of research to understand the pathophysiology of these disorders. In addition to GWAS, we expect that new technologies, such as next-generation sequencing, and continued use of animal models will provide important contributions to our understanding of the genetic basis of sleep disorders.