Approaches to unravel the genetics of sleep

Sleep Medicine Reviews

Volumn 14, Issue 6, 2010, Pages 397-404

  Bamne, Mikhil N ^a   Mansour, Hader ^a   Monk, Timothy H ^a   Buysse, Daniel J ^a   Nimgaonkar, Vishwajit L ^a  

^a UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

Circadian; Gene mapping; Genome wide association studies; Polymorphisms; Sleep

Indexed keywords

CIRCADIAN RHYTHM; COST EFFECTIVENESS ANALYSIS; GENE IDENTIFICATION; GENE MAPPING; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENETICS; HUMAN; PHENOTYPE; REVIEW; SLEEP; SLEEP DISORDER; SLEEP PATTERN;

CHROMOSOME MAPPING; CIRCADIAN RHYTHM; GENE EXPRESSION; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; POINT MUTATION; SLEEP; SLEEP DISORDERS; SLEEP DISORDERS, CIRCADIAN RHYTHM;

EID: 77957878652     PISSN: 10870792     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.smrv.2010.01.001     Document Type: Review

References (75)

1. Altshuler D., Daly M.J., Lander E.S. Genetic mapping in human disease. Science 2008, 322(5903):881-888.
2. Shaw P.J., Franken P. Perchance to dream: solving the mystery of sleep through genetic analysis. J Neurobiol 2003, 54(1):179-202.
3. Saper C.B., Scammell T.E., Lu J. Hypothalamic regulation of sleep and circadian rhythms. Nature 2005, 437(7063):1257-1263.
4. Nofzinger E.A. Functional neuroimaging of sleep. Semin Neurol 2005, 25(1):9-18.
5. Ohayon M.M. From wakefulness to excessive sleepiness: what we know and still need to know. Sleep Med Rev 2008, 12(2):129-141.
6. Bixler E.O., Vgontzas A.N., Lin H.M., Calhoun S.L., Vela-Bueno A., Kales A. Excessive daytime sleepiness in a general population sample: the role of sleep apnea, age, obesity, diabetes, and depression. J Clin Endocrinol Metab 2005, 90(8):4510-4515.
7. Buysse D.J., Angst J., Gamma A., Ajdacic V., Eich D., Rossler W. Prevalence, course, and comorbidity of insomnia and depression in young adults. Sleep 2008, 31(4):473-480.
8. Andretic R., Franken P., Tafti M. Genetics of sleep. Annu Rev Genet 2008, 42:361-388.
9. Luciano J.V., Algarabel S. Individual differences in self-reported thought control: the role of the repressive coping style. Psicothema 2006, 18(2):228-231.
10. de Castro J.M. The influence of heredity on self-reported sleep patterns in free-living humans. Physiol Behav 2002, 76(4-5):479-486.
11. Gregory A.M., Rijsdijk F.V., Eley T.C. A twin-study of sleep difficulties in school-aged children. Child Dev 2006, 77(6):1668-1679.
12. Klei L., Reitz P., Miller M., Wood J., Maendel S., Gross D., et al. Heritability of morningness-eveningness and self-report sleep measures in a family based sample of 521 Hutterites. Chronobiol Int 2005, 22(6):1041-1054.
13. Dauvilliers Y., Morin C., Cervena K., Carlander B., Touchon J., Besset A., et al. Family studies in insomnia. J Psychosom Res 2005, 58(3):271-278.
14. Ying He C.R.J., Fujiki Nobuhiro, Xu Ying, Guo Bin, Holder Jimmy L., Rossner Moritz J., et al. The transcriptional repressor DEC2 regulates sleep length in mammals. Science 2009, 325(5942):866-870.
15. Visscher P.M. Sizing up human height variation. Nat Genet 2008, 40(5):489-490.
16. Buysse D. Insomnia state of the science: an evolutionary, evidence-based assessment. Sleep 2005, 28(9):1045-1046.
17. Collins A., Morton N.E. Mapping a disease locus by allelic association. Proc Natl Acad Sci USA 1998, 95(4):1741-1745.
18. Hall J.M., Lee M.K., Newman B., Morrow J.E., Anderson L.A., Huey B., et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990, 250(4988):1684-1689.
19. Miki Y., Swensen J., Shattuck-Eidens D., Futreal P.A., Harshman K., Tavtigian S., et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994, 266(5182):66-71.
20. Winkelmann J., Schormair B., Lichtner P., Ripke S., Xiong L., Jalilzadeh S., et al. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet 2007, 39(8):1000-1006.
21. Hallmayer J., Faraco J., Lin L., Hesselson S., Winkelmann J., Kawashima M., et al. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet 2009, 41(6):708-711.
22. Toh K.L., Jones C.R., He Y., Eide E.J., Hinz W.A., Virshup D.M., et al. An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science 2001, 291(5506):1040-1043. Order.
23. Xu Y., Padiath Q.S., Shapiro R.E., Jones C.R., Wu S.C., Saigoh N., et al. Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. Nature 2005, 434(7033):640-644.
24. Franken P., Thomason R., Heller H.C., O'Hara B.F. A non-circadian role for clock-genes in sleep homeostasis: a strain comparison. BMC Neurosci 2007, 8:87.
25. Merikangas K.R., Spence M.A., Kupfer D.J. Linkage studies of bipolar disorder: methodologic and analytic issues. Report of MacArthur Foundation workshop on linkage and clinical features in affective disorders. Arch Gen Psychiatry 1989, 46(12):1137-1141.
26. Chiang D.Y., Getz G., Jaffe D.B., O'Kelly M.J., Zhao X., Carter S.L., et al. High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat Methods 2009, 6(1):99-103.
27. Cavalli-Sforza L.L., Menozzi P., Piazza A. The history and geography of human genes 1994, Princeton University Press, Princeton.
28. Spielman R.S., Ewens W.J. The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 1996, 59(5):983-989. [editorial].
29. Devlin B., Bacanu S.A., Roeder K. Genomic control to the extreme. Nat Genet 2004, 36(11):1129-1130.
30. Price A.L., Patterson N.J., Plenge R.M., Weinblatt M.E., Shadick N.A., Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006, 38(8):904-909.
31. Weisgraber K.H., Mahley R.W. Human apolipoprotein E: the Alzheimer's disease connection. FASEB J 1996, 10(13):1485-1494.
32. Curtis A.M., Fitzgerald G.A. Central and peripheral clocks in cardiovascular and metabolic function. Ann Med 2006, 38(8):552-559.
33. Archer S.N., Robilliard D.L., Skene D.J., Smits M., Williams A., Arendt J., et al. A length polymorphism in the circadian clock gene Per3 is linked to delayed sleep phase syndrome and extreme diurnal preference. Sleep 2003, 26(4):413-415.
34. Jones K.H., Ellis J., von Schantz M., Skene D.J., Dijk D.J., Archer S.N. Age-related change in the association between a polymorphism in the PER3 gene and preferred timing of sleep and waking activities. J Sleep Res 2007, 16(1):12-16.
35. Pereira D.S., Tufik S., Louzada F.M., Benedito-Silva A.A., Lopez A.R., Lemos N.A., et al. Association of the length polymorphism in the human Per3 gene with the delayed sleep-phase syndrome: does latitude have an influence upon it?. Sleep 2005, 28(1):29-32.
36. Viola A.U., Archer S.N., James L.M., Groeger J.A., Lo J.C., Skene D.J., et al. PER3 polymorphism predicts sleep structure and waking performance. Curr Biol 2007, 17(7):613-618.
37. Groeger J.A., Viola A.U., Lo J.C., von Schantz M., Archer S.N., Dijk D.J. Early morning executive functioning during sleep deprivation is compromised by a PERIOD3 polymorphism. Sleep 2008, 31(8):1159-1167.
38. Viola A.U., James L.M., Archer S.N., Dijk D.J. PER3 polymorphism and cardiac autonomic control: effects of sleep debt and circadian phase. Am J Physiol Heart Circ Physiol 2008, 295(5):H2156-H2163.
39. Goel N., Banks S., Mignot E., Dinges D.F. PER3 polymorphism predicts cumulative sleep homeostatic but not neurobehavioral changes to chronic partial sleep deprivation. PLoS One 2009, 4(6):e5874.
40. Ebisawa T., Uchiyama M., Kajimura N., Mishima K., Kamei Y., Katoh M., et al. Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome. EMBO Rep 2001, 2(4):342-346. Order.
41. Takano A., Uchiyama M., Kajimura N., Mishima K., Inoue Y., Kamei Y., et al. A missense variation in human casein kinase I epsilon gene that induces functional alteration and shows an inverse association with circadian rhythm sleep disorders. Neuropsychopharmacology 2004, 29(10):1901-1909.
42. Ebisawa T., Uchiyama M., Kajimura N., Kamei Y., Shibui K., Kim K., et al. Genetic polymorphisms of human melatonin 1b receptor gene in circadian rhythm sleep disorders and controls. Neurosci Lett 2000, 280(1):29-32.
43. Wisor J.P., Nishino S., Sora I., Uhl G.H., Mignot E., Edgar D.M. Dopaminergic role in stimulant-induced wakefulness. J Neurosci 2001, 21(5):1787-1794.
44. Kume K., Kume S., Park S.K., Hirsh J., Jackson F.R. Dopamine is a regulator of arousal in the fruit fly. J Neurosci 2005, 25(32):7377-7384.
45. Yuan Q., Joiner W.J., Sehgal A. A sleep-promoting role for the Drosophila serotonin receptor 1A. Curr Biol 2006, 16(11):1051-1062.
46. Krueger J.M., Majde J.A. Humoral links between sleep and the immune system: research issues. Ann NY Acad Sci 2003, 992:9-20.
47. Kubota T., Brown R.A., Fang J., Krueger J.M. Interleukin-15 and interleukin-2 enhance non-REM sleep in rabbits. Am J Physiol Regul Integr Comp Physiol 2001, 281(3):R1004-R1012.
48. Williams J.A., Sathyanarayanan S., Hendricks J.C., Sehgal A. Interaction between sleep and the immune response in Drosophila: a role for the NFkappaB relish. Sleep 2007, 30(4):389-400.
49. Cirelli C., Bushey D., Hill S., Huber R., Kreber R., Ganetzky B., et al. Reduced sleep in Drosophila Shaker mutants. Nature 2005, 434(7037):1087-1092.
50. Bushey D., Huber R., Tononi G., Cirelli C. Drosophila hyperkinetic mutants have reduced sleep and impaired memory. J Neurosci 2007, 27(20):5384-5393.
51. Seugnet L., Suzuki Y., Thimgan M., Donlea J., Gimbel S.I., Gottschalk L., et al. Identifying sleep regulatory genes using a Drosophila model of insomnia. J Neurosci 2009, 29(22):7148-7157.
52. Koh K., Joiner W.J., Wu M.N., Yue Z., Smith C.J., Sehgal A. Identification of SLEEPLESS, a sleep-promoting factor. Science 2008, 321(5887):372-376.
53. Cirelli C., Tononi G. Differential expression of plasticity-related genes in waking and sleep and their regulation by the noradrenergic system. J Neurosci 2000, 20(24):9187-9194.
54. Wu M.N., Ho K., Crocker A., Yue Z., Koh K., Sehgal A. The effects of caffeine on sleep in Drosophila require PKA activity, but not the adenosine receptor. J Neurosci 2009, 29(35):11029-11037.
55. Kramer A., Yang F.C., Snodgrass P., Li X., Scammell T.E., Davis F.C., et al. Regulation of daily locomotor activity and sleep by hypothalamic EGF receptor signaling. Science 2001, 294(5551):2511-2515.
56. Pearson T.A., Manolio T.A. How to interpret a genome-wide association study. JAMA 2008, 299(11):1335-1344.
57. Dermitzakis E.T., Clark A.G. Genetics. Life after GWA studies. Science 2009, 326(5950):239-240.
58. Manolio T.A., Collins F.S., Cox N.J., Goldstein D.B., Hindorff L.A., Hunter D.J., et al. Finding the missing heritability of complex diseases. Nature 2009, 461(7265):747-753.
59. Cook E.H., Scherer S.W. Copy-number variations associated with neuropsychiatric conditions. Nature 2008, 455(7215):919-923.
60. Ng S.B., Buckingham K.J., Lee C., Bigham A.W., Tabor H.K., Dent K.M., et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet 2009.
61. Gottlieb D.J., O'Connor G.T., Wilk J.B. Genome-wide association of sleep and circadian phenotypes. BMC Med Genet 2007, 8(Suppl. 1):S9.
62. Lasky-Su J., Neale B.M., Franke B., Anney R.J., Zhou K., Maller J.B., et al. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. Am J Med Genet B Neuropsychiatr Genet 2008, 147B(8):1345-1354.
63. Neale B.M., Lasky-Su J., Anney R., Franke B., Zhou K., Maller J.B., et al. Genome-wide association scan of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 2008, 147B(8):1337-1344.
64. Xiong L., Catoire H., Dion P., Gaspar C., Lafreniere R.G., Girard S.L., et al. MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels. Hum Mol Genet 2009, 18(6):1065-1074.
65. Didden R., Korzilius H., Smits M.G., Curfs L.M. Sleep problems in individuals with Angelman syndrome. Am J Ment Retard 2004, 109(4):275-284.
66. Katzenberg D., Young T., Finn L., Lin L., King D.P., Takahashi J.S., et al. A CLOCK polymorphism associated with human diurnal preference. Sleep 1998, 21(6):569-576.
67. Serretti A., Benedetti F., Mandelli L., Lorenzi C., Pirovano A., Colombo C., et al. Genetic dissection of psychopathological symptoms: insomnia in mood disorders and CLOCK gene polymorphism. Am J Med Genet 2003, 121B(1):35-38.
68. Mishima K., Tozawa T., Satoh K., Saitoh H., Mishima Y. The 3111T/C polymorphism of hClock is associated with evening preference and delayed sleep timing in a Japanese population sample. Am J Med Genet B Neuropsychiatr Genet 2005, 133B(1):101-104.
69. Robilliard D.L., Archer S.N., Arendt J., Lockley S.W., Hack L.M., English J., et al. The 3111 Clock gene polymorphism is not associated with sleep and circadian rhythmicity in phenotypically characterized human subjects. J Sleep Res 2002, 11(4):305-312.
70. Iwase T., Kajimura N., Uchiyama M., Ebisawa T., Yoshimura K., Kamei Y., et al. Mutation screening of the human Clock gene in circadian rhythm sleep disorders. Psychiatry Res 2002, 109(2):121-128.
71. Pedrazzoli M., Ling L., Finn L., Kubin L., Young T., Katzenberg D., et al. A polymorphism in the human timeless gene is not associated with diurnal preferences in normal adults. Sleep Res Online 2000, 3(2):73-76.
72. Carpen J.D., Archer S.N., Skene D.J., Smits M., von Schantz M. A single-nucleotide polymorphism in the 5′-untranslated region of the hPER2 gene is associated with diurnal preference. J Sleep Res 2005, 14(3):293-297.
73. Carpen J.D., von Schantz M., Smits M., Skene D.J., Archer S.N. A silent polymorphism in the PER1 gene associates with extreme diurnal preference in humans. J Hum Genet 2006, 51(12):1122-1125.
74. Katzenberg D., Young T., Lin L., Finn L., Mignot E. A human period gene (HPER1) polymorphism is not associated with diurnal preference in normal adults. Psychiatr Genet 1999, 9(2):107-109.
75. Johansson C., Willeit M., Smedh C., Ekholm J., Paunio T., Kieseppa T., et al. Circadian clock-related polymorphisms in seasonal affective disorder and their relevance to diurnal preference. Neuropsychopharmacology 2003, 28(4):734-739.