Genetics of sleep timing, duration, and homeostasis in humans

Sleep Medicine Clinics

Volumn 6, Issue 2, 2011, Pages 171-182

  Goel, Namni ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Circadian timing; Genetics; Individual differences; Sleep deprivation; Sleep duration; Sleep homeostasis

Indexed keywords

ADENOSINE; CATECHOL METHYLTRANSFERASE; DOPAMINE TRANSPORTER; PER3 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

CIRCADIAN RHYTHM; DNA POLYMORPHISM; ELECTROENCEPHALOGRAPHY; FUNCTIONAL MAGNETIC RESONANCE IMAGING; GENE LOCUS; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENETICS; GENOTYPE; HOMEOSTASIS; HUMAN; NONREM SLEEP; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SLEEP; SLEEP DEPRIVATION; SLEEP PARAMETERS; SLEEP PATTERN; SLEEP TIME; SLOW WAVE SLEEP; VARIABLE NUMBER OF TANDEM REPEAT;

EID: 79958075785     PISSN: 1556407X     EISSN: 15564088     Source Type: Journal    
DOI: 10.1016/j.jsmc.2011.03.004     Document Type: Review

References (98)

1. Van Dongen HP, Dinges DF. Investigating the interaction between the homeostatic and circadian processes of sleep-wake regulation for the prediction of waking neurobehavioral performance. J Sleep Res 2003;12:181-7. (Pubitemid 37083016)
2. Goel N, Van Dongen HP, Dinges DF. Circadian rhythms in sleepiness, alertness, and performance. In: Kryger MH, Dement WC, Roth T, editors. Principles and practice of sleep medicine. 5th edition. Philadelphia: Elsevier; 2011. p. 445-55.
3. Achermann P, Dijk DJ, Brunner DP, et al. A model of human sleep homeostasis based on EEG slow-wave activity; quantitative comparison of data and simulations. Brain Res Bull 1993;31:97-113. (Pubitemid 23102831)
4. Borbély AA. A two process model of sleep regulation. Hum Neurobiol 1982;1:195-204. (Pubitemid 13213853)
5. Mallis MM, Mejdal S, Nguyen TT, et al. Summary of the key features of seven biomathematical models of human fatigue and performance. Aviat Space Environ Med 2004;75:A4-14.
6. Daan S, Beersma DGM, Borbély AA. Timing of human sleep: recovery process gated by a circadian pacemaker. Am J Physiol 1984;246:R161-78.
7. Achermann P, Borbély AA. Simulation of daytime vigilance by the additive interaction of a homeostatic and a circadian process. Biol Cybern 1994;71:115-21.
8. Khalsa SBS, Jewett ME, Duffy JF, et al. The timing of the human circadian clock is accurately represented by the core body temperature rhythm following phase shifts to a three-cycle light stimulus near the critical zone. J Biol Rhythms 2000;15:524-30. (Pubitemid 32258260)
9. Edgar DM, Dement WC, Fuller CA. Effect of SCN lesions on sleep in squirrel monkeys: evidence for opponent processes in sleep-wake regulation. J Neurosci 1993;13:1065-79. (Pubitemid 23067594)
10. Doran SM, Van Dongen HPA, Dinges DF. Sustained attention performance during sleep deprivation: evidence of state instability. Arch Ital Biol 2001;139:253-67. (Pubitemid 32274940)
11. Kerkhof GA, Van Dongen HPA. Morning-type and evening-type individuals differ in the phase position of their endogenous circadian oscillator. Neurosci Lett 1996;218:153-6. (Pubitemid 26388838)
12. Baehr EK, Revelle W, Eastman CI. Individual differences in the phase and amplitude of the human circadian temperature rhythm: with an emphasis on morningness-eveningness. J Sleep Res 2000;9:117-27. (Pubitemid 30333145)
13. Horne JA, Östberg O. A self-assessment questionnaire to determine morningness-eveningness in human circadian rhythms. Int J Chronobiol 1976;4:97-110. (Pubitemid 8001177)
14. Smith CS, Reilly D, Midkiff K. Evaluation of three circadian rhythm questionnaires with suggestions for an improved measure of morningness. J Appl Psychol 1989;74:728-38.
15. Roenneberg T, Wirz-Justice A, Merrow M. Life between clocks: daily temporal patterns of human chronotypes. J Biol Rhythms 2003;18:80-90. (Pubitemid 37187310)
16. Roenneberg T, Kuehnle T, Juda M, et al. Epidemiology of the human circadian clock. Sleep Med Rev 2007;11:429-38. (Pubitemid 350087711)
17. Duffy JF, Dijk D-J, Klerman EB, et al. Later endogenous circadian temperature nadir relative to an earlier wake time in older people. Am J Physiol 1998;275:R1478-87.
18. Foster RG, Roenneberg T. Human responses to the geophysical daily, annual and lunar cycles. Curr Biol 2008;18:R784-94.
19. Adan A, Natale V. Gender differences in morningness-eveningness preference. Chronobiol Int 2002;19:709-20. (Pubitemid 34848150)
20. Randler C. Gender differences in morningness-eveningness assessed by self-report questionnaires: a meta-analysis. Pers Indiv Differ 2007;43:1667-75.
21. Hur Y-M. Stability of genetic influence on morningness-eveningness: a cross-sectional examination of South Korean twins from preadolescence to young adulthood. J Sleep Res 2007;16:17-23.
22. Hur YM, Bouchard TJ Jr, Lykken DT. Genetic and environmental influence on morningness-eveningness. Pers Indiv Differ 1998;25:917-25.
23. Vink JM, Groot AS, Kerkhof GA, et al. Genetic analysis of morningness and eveningness. Chronobiol Int 2001;18:809-22. (Pubitemid 33139502)
24. Van Dongen HP, Kerkhof GA, Dinges DF. Human circadian rhythms. In: Sehgal A, editor. Molecular biology of circadian rhythms. New York: John Wiley and Sons; 2004. p. 255-69.
25. Takahashi JS, Hong HK, Ko CH, et al. The genetics of mammalian circadian order and disorder: implications for physiology and disease. Nat Rev Genet 2008;9:764-75.
26. Katzenberg D, Young T, Finn L, et al. A CLOCK polymorphism associated with human diurnal preference. Sleep 1998;21:569-76. (Pubitemid 28440699)
27. Mishima K, Tozawa T, Satoh K, et al. 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;133:101-4. (Pubitemid 40175625)
28. Robilliard DL, Archer SN, Arendt 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; 11:305-12. (Pubitemid 35478074)
29. Iwase T, Kajimura N, Uchiyama M, et al. Mutation screening of the human Clock gene in circadian rhythm sleep disorders. Psychiatry Res 2002;109:121-8. (Pubitemid 34258490)
30. Pedrazzoli M, Louzada FM, Pereira DS, et al. Clock polymorphisms and circadian rhythms phenotypes in a sample of the Brazilian population. Chronobiol Int 2007;24:1-8. (Pubitemid 46279993)
31. Archer SN, Robilliard DL, Skene DJ, et al. A length polymorphism in the circadian clock gene PER3 is linked to delayed sleep phase syndrome and extreme diurnal preference. Sleep 2003;26:413-5. (Pubitemid 39610658)
32. Pereira DS, Tufik S, Louzada FM, 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;28:29-32.
33. Jones KH, Ellis J, von Schantz M, et al. 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;16:12-6.
34. Ebisawa T, Uchiyama M, Kajimura N, et al. Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome. EMBO Rep 2001;2:342-6. (Pubitemid 32401531)
35. Viola AU, Archer SN, James LM, et al. PER3 polymorphism predicts sleep structure and waking performance. Curr Biol 2007;17:613-8. (Pubitemid 46497792)
36. Groeger JA, Viola AU, Lo JC, et al. Early morning executive functioning during sleep deprivation is compromised by a PERIOD3 polymorphism. Sleep 2008;31:1159-67.
37. Carpen JD, Archer SN, Skene DJ, et al. A single-nucleotide polymorphism in the 5′-untranslated region of the hPER2 gene is associated with diurnal preference. J Sleep Res 2005;14:293-7. (Pubitemid 41291314)
38. Carpen JD, von Schantz M, Smits M, et al. A silent polymorphism in the PER1 gene associates with extreme diurnal preference in humans. J Hum Genet 2006;51:1122-5. (Pubitemid 44800732)
39. American Academy of Sleep Medicine. The international classification of sleep disorders: diagnostic and coding manual. 2nd edition. Westchester (IL): American Academy of Sleep Medicine; 2005.
40. Sack RL, Auckley D, Auger RR, et al. Circadian rhythm sleep disorders: part II, advanced sleep phase disorder, delayed sleep phase disorder, free-running disorder, and irregular sleep-wake rhythm. An American Academy of Sleep Medicine review. Sleep 2007;30:1484-501. (Pubitemid 350036974)
41. Campbell SS, Murphy PJ. Delayed sleep phase disorder in temporal isolation. Sleep 2007;30:1225-8. (Pubitemid 47378966)
42. Takano A, Uchiyama M, Kajimura N, 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;29:1901-9. (Pubitemid 39336801)
43. Reid KJ, Chang AM, Dubocovich ML, et al. Familial advanced sleep phase syndrome. Arch Neurol 2001;58:1089-94. (Pubitemid 32660772)
44. Jones CR, Campbell SS, Zone SE, et al. Familial advanced sleep-phase syndrome: a short-period circadian rhythm variant in humans. Nat Med 1999;5:1062-5. (Pubitemid 29439580)
45. Toh KL, Jones CR, He Y, et al. An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science 2001;291:1040-3. (Pubitemid 32157412)
46. Satoh K, Mishima K, Inoue Y, et al. Two pedigrees of familial advanced sleep phase syndrome in Japan. Sleep 2003;26:416-7. (Pubitemid 39610659)
47. Xu Y, Padiath QS, Shapiro RE, et al. Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. Nature 2005;434:640-4. (Pubitemid 40488555)
48. Kerkhof GA. Inter-individual differences in the human circadian system: a review. Biol Psychol 1985;20:83-112. (Pubitemid 15088971)
49. Goel N, Banks S, Mignot E, et al. PER3 polymorphism predicts cumulative sleep homeostatic but not neurobehavioral changes to chronic partial sleep deprivation. PLoS ONE 2009;4:e5874.
50. Dauvilliers Y, Maret S, Tafti M. Genetics of normal and pathological sleep in humans. Sleep Med Rev 2005;9:91-100. (Pubitemid 40311862)
51. Tafti M, Maret S, Dauvilliers Y. Genes for normal sleep and sleep disorders. Ann Med 2005;37:580-9. (Pubitemid 41780146)
52. Tafti M. Genetic aspects of normal and disturbed sleep. Sleep Med 2009;10(Suppl 1):S17-21.
53. Ambrosius U, Lietzenmaier S, Wehrle R, et al. Heritability of sleep electroencephalogram. Biol Psychiatry 2008;64:344-8.
54. De Gennaro L, Marzano C, Fratello F, et al. The electroencephalographic fingerprint of sleep is genetically determined: a twin study. Ann Neurol 2008;64:455-60.
55. Werth E, Achermann P, Dijk DJ, et al. Spindle frequency activity in the sleep EEG: individual differences and topographic distribution. Electroencephalogr Clin Neurophysiol 1997;103:535-42. (Pubitemid 27505346)
56. Tan X, Campbell IG, Palagini L, et al. High internight reliability of computer-measured NREM delta, sigma, and beta: biological implications. Biol Psychiatry 2000;48:1010-9.
57. Finelli LA, Achermann P, Borbely AA. Individual 'fingerprints' in human sleep EEG topography. Neuropsychopharmacology 2001;25:S57-62.
58. De Gennaro L, Ferrara M, Vecchio F, et al. An electroencephalographic fingerprint of human sleep. Neuroimage 2005;26:114-22. (Pubitemid 40602891)
59. Tucker AM, Dinges DF, Van Dongen HP. Trait interin-dividual differences in the sleep physiology of healthy young adults. J Sleep Res 2007;16:170-80. (Pubitemid 46850096)
60. Buckelmuller J, Landolt HP, Stassen HH, et al. Traitlike individual differences in the human sleep electroencephalogram. Neuroscience 2006;138:351-6. (Pubitemid 43222093)
61. Andretic R, Franken P, Tafti M. Genetics of sleep. Annu Rev Genet 2008;42:361-88.
62. He Y, Jones CR, Fujiki N, et al. The transcriptional repressor DEC2 regulates sleep length in mammals. Science 2009;325:866-70.
63. Guindalini C, Martins RC, Andersen ML, et al. Influence of genotype on dopamine transporter availability in human striatum and sleep architecture. Psychiatry Res 2010;179:238-40.
64. Van Dongen HP, Baynard MD, Maislin G, et al. Systematic interindividual differences in neurobehavioral impairment from sleep loss: evidence of traitlike differential vulnerability. Sleep 2004;27:423-33. (Pubitemid 44138802)
65. Leproult R, Colecchia EF, Berardi AM, et al. Individual differences in subjective and objective alertness during sleep deprivation are stable and unrelated. Am J Physiol Regul Integr Comp Physiol 2003;284:R280-90.
66. Van Dongen HP, Dinges DF. Sleep, circadian rhythms, and psychomotor vigilance performance. Clin Sports Med 2005;24:237-49. (Pubitemid 40603846)
67. Van Dongen HP, Maislin G, Dinges DF. Dealing with interindividual differences in the temporal dynamics of fatigue and performance: importance and techniques. Aviat Space Environ Med 2004;75(3 Suppl):A147-54.
68. Frey DJ, Badia P, Wright KP Jr. Inter- and intraindividual variability in performance near the circadian nadir during sleep deprivation. J Sleep Res 2004;13:305-15. (Pubitemid 39627354)
69. Van Dongen HP, Dijkman MV, Maislin G, et al. Phenotypic aspect of vigilance decrement during sleep deprivation. Physiologist 1999;42:A-5.
70. Van Dongen HP, Maislin G, Mullington JM, et al. The cumulative cost of additional wakefulness: dose-response effects on neurobehavioral functions and sleep physiology from chronic sleep restriction and total sleep deprivation. Sleep 2003;26:117-26. (Pubitemid 39610686)
71. Banks S, Dinges DF. Behavioral and physiological consequences of sleep restriction in humans. J Clin Sleep Med 2007;3:519-28. (Pubitemid 47378257)
72. Goel N, Rao H, Durmer JS, et al. Neurocognitive consequences of sleep deprivation. Semin Neurol 2009;29:320-39.
73. Goel N, Banks S, Mignot E, et al. DQB1*0602 predicts interindividual differences in physiologic sleep, sleepiness and fatigue. Neurology 2010;75:1509-19.
74. Bliese PD, Wesensten NJ, Balkin TJ. Age and individual variability in performance during sleep restriction. J Sleep Res 2006;15:376-85.
75. Drake CL, Roehrs TA, Burduvali E, et al. Effects of rapid versus slow accumulation of eight hours of sleep loss. Psychophysiology 2001;38:979-87. (Pubitemid 33108364)
76. Rowland LM, Thomas ML, Thorne DR, et al. Oculomotor responses during partial and total sleep deprivation. Aviat Space Environ Med 2005;76:C104-13.
77. Nadkarni NA, Weale ME, von Schantz M, et al. Evolution of a length polymorphism in the human PER3 gene, a component of the circadian system. J Biol Rhythms 2005;20:490-9. (Pubitemid 41677391)
78. Ciarleglio CM, Ryckman KK, Servick SV, et al. Genetic differences in human circadian clock genes among worldwide populations. J Biol Rhythms 2008;23:330-40. (Pubitemid 352010009)
79. Viola AU, James LM, Archer SN, et al. PER3 polymorphism and cardiac autonomic control: effects of sleep debt and circadian phase. Am J Physiol Heart Circ Physiol 2008;295:H2156-63.
80. Archer SN, Viola AU, Kyriakopoulou V, et al. Interindividual differences in habitual sleep timing and entrained phase of endogenous circadian rhythms of BMAL1, PER2 and PER3 mRNA in human leukocytes. Sleep 2008;31:608-17. (Pubitemid 351694249)
81. Vandewalle G, Archer SN, Wuillaume C, et al. Functional magnetic resonance imaging-assessed brain responses during an executive task depend on interaction of sleep homeostasis, circadian phase, and PER3 genotype. J Neurosci 2009;29:7948-56.
82. Mignot E, Young T, Lin L, et al. Nocturnal sleep and daytime sleepiness in normal subjects with HLADQB1* 0602. Sleep 1999;22:347-52.
83. Dauvilliers Y, Tafti M. Molecular genetics and treatment of narcolepsy. Ann Med 2006;38:252-62. (Pubitemid 43862327)
84. Mignot E, Lin L, Finn L, et al. Correlates of sleep-onset REM periods during the Multiple Sleep Latency Test in community adults. Brain 2006;129:1609-23. (Pubitemid 43999391)
85. Tunbridge EM, Harrison PJ, Weinberger DR. Catecholo-methyltransferase, cognition, and psychosis: Val158-Met and beyond. Biol Psychiatry 2006;60:141-51.
86. Savitz J, Solms M, Ramesar R. The molecular genetics of cognition: dopamine, COMT and BDNF. Genes Brain Behav 2006;5:311-28.
87. Egan MF, Goldberg TE, Kolachana BS, et al. Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci U S A 2001;98:6917-22. (Pubitemid 32538317)
88. Dickinson D, Elvevåg B. Genes, cognition and brain through aCOMT lens. Neuroscience 2009;164:72-87.
89. Barnett JH, Jones PB, Robbins TW, et al. Effects of the catechol-O-methyltransferase Val158Met polymorphism on executive function: a meta-analysis of the Wisconsin Card Sort Test in schizophrenia and healthy controls. Mol Psychiatry 2007;12:502-9. (Pubitemid 46656086)
90. Dauvilliers Y, Neidhart E, Lecendreux M, et al. MAO-A and COMT polymorphisms and gene effects in narcolepsy. Mol Psychiatry 2001;6:367-72. (Pubitemid 32566084)
91. Dauvilliers Y, Neidhart E, Billiard M, et al. Sexual dimorphism of the catechol-O-methyltransferase gene in narcolepsy is associated with response to modafinil. Pharmacogenomics J 2002;2:65-8. (Pubitemid 34982205)
92. Frauscher B, Högl B, Maret S, et al. Association of daytime sleepiness with COMT polymorphism in patients with Parkinson disease: a pilot study. Sleep 2004;27:733-6. (Pubitemid 38823371)
93. Bodenmann S, Rusterholz T, Dürr R, et al. The functional Val158Met polymorphism of COMT predicts interindividual differences in brain α oscillations in young men. J Neurosci 2009;29:10855-62.
94. Bodenmann S, Xu S, Luhmann U, et al. Pharmacogenetics of modafinil after sleep loss: Catechol-O-methyltransferase genotype modulates waking functions but not recovery sleep. Clin Pharmacol Ther 2009;85:296-304.
95. Bodenmann S, Landolt HP. Effects of modafinil on the sleep EEG depend on Val158Met genotype of COMT. Sleep 2010;33:1027-35.
96. Rétey JV, Adam M, Honegger E, et al. A functional genetic variation of adenosine deaminase affects the duration and intensity of deep sleep in humans. Proc Natl Acad Sci U S A 2005;102:15676-81. (Pubitemid 41528115)
97. Rétey JV, Adam M, Khatami R, et al. A genetic variation in the adenosine A2A receptor gene (ADOR-A2A) contributes to individual sensitivity to caffeine effects on sleep. Clin Pharmacol Ther 2007;81:692-8. (Pubitemid 46625104)
98. Gottlieb DJ, O'Connor GT, Wilk JB. Genome-wide association of sleep and circadian phenotypes. BMC Med Genet 2007;8(Suppl 1):S9.