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Postgraduate Education Corner: CONTEMPORARY REVIEWS IN SLEEP MEDICINE |

Genome-Wide Association Studies of Sleep Disorders

David M. Raizen, MD, PhD; Mark N. Wu, MD, PhD
Author and Funding Information

From the Department of Neurology (Dr Raizen), University of Pennsylvania School of Medicine, Philadelphia, PA; and Department of Neurology (Dr Wu), Johns Hopkins University, Baltimore, MD.

Correspondence to: Mark Wu, MD, PhD, Department of Neurology, Johns Hopkins University, Meyer 5-166, 600 N Wolfe St, Baltimore, MD 21287; e-mail: mwu38@jhmi.edu


Funding/Support: This work was supported by the National Institutes of Health [R01NS064030 to Dr Raizen and K08NS059671 to Dr Wu], the National Alliance for Research on Schizophrenia and Depression [Young Investigator Award to Dr Raizen], and the Burroughs-Wellcome Fund [Career Award for Medical Scientists to Dr Wu].

Reproduction of this article is prohibited without written permission from the American College of Chest Physicians (http://www.chestpubs.org/site/misc/reprints.xhtml).


© 2011 American College of Chest Physicians


Chest. 2011;139(2):446-452. doi:10.1378/chest.10-1313
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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.


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