Genetics of normal and pathological sleep in humans

Sleep Medicine Reviews

Volumn 9, Issue 2, 2005, Pages 91-100

  Dauvilliers, Y ^a,b,c   Maret, S ^b   Tafti, Mehdi ^b  

^a GUI DE CHAULIAC HOSPITAL   (France)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c Montpellier 1 University   (France)

Author keywords

Apnea; Association; Insomnia; Kleine Levin syndrome; Linkage; Narcolepsy; Sleepwalking; Twins

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; CIRCADIAN RHYTHM SLEEP DISORDER; DISEASE ASSOCIATION; DNA POLYMORPHISM; ELECTROENCEPHALOGRAM; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC REGULATION; HEREDITY; HUMAN; HYPERSOMNIA; INSOMNIA; LINKAGE ANALYSIS; NARCOLEPSY; NIGHTMARE; NOCTURNAL ENURESIS; NONHUMAN; PANIC; PARASOMNIA; PHENOTYPE; POLYSOMNOGRAPHY; REM SLEEP; RESTLESS LEGS SYNDROME; REVIEW; SLEEP; SLEEP APNEA SYNDROME; SLEEP DISORDER; SLEEP WALKING;

EID: 14644408095     PISSN: 10870792     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.smrv.2004.06.001     Document Type: Article

References (112)

1. Hublin C., Kaprio J. Genetic aspects and genetic epidemiology of parasomnias. Sleep Med Rev. 7:2003;413-421
2. Geyer H. Ueber den Schlaf von Zwillingen. Z Indukt Abstamm Verebungsl. 78:1937;524-527
3. Gedda L. Studio dei Gemelli. 1951;Orizzonte Medico, Roma
4. Anokhine P. Les jumeaux coalescents. Press Med. 1939;20
5. Gedda L., Brenci G. Sleep and dream characteristics in twins. Acta Genet Med Gemellol. 28:1979;237-239
6. Gedda L., Brenci G. Twins living apart test: progress report. Acta Genet Med Gemellol. 32:1983;17-22
7. Partinen M., et al. Genetic and environmental determination of human sleep. Sleep. 6:1983;179-185
8. Heath A.C., et al. Evidence for genetic influences on sleep disturbance and sleep pattern in twins. Sleep. 13:1990;318-335
9. Zung W.W., Wilson W.P. Sleep and dream patterns in twins. Markov analysis of a genetic trait. Recent Adv Biol Psychiatry. 9:1966;119-130
10. Gould J., Austin F., Cook P. A genetic analysis of sleep stage organization in newborn twins. Sleep Res. 7:1978;132
11. Webb W.B., Campbell S.S. Relationships in sleep characteristics of identical and fraternal twins. Arch Gen Psychiatry. 40:1983;1093-1095
12. Chouvet G., et al. The structure of the occurrence of rapid eye movements in paradoxical sleep is similar in homozygotic twins. C R Seances Acad Sci III. 296:1983;1063-1068
13. Hori A. Sleep characteristics in twins. Jpn J Psychiatry Neurol. 40:1986;35-46
14. Hori A., et al. Sleep spindles in twins. Clin Electroencephalogr. 20:1989;121-127
15. Linkowski P. EEG sleep patterns in twins. J Sleep Res. 1:(Suppl):1999;11-13
16. Davis H., Davis P. Action potentials of the brain in normal persons and in normal states of cerebral activity. Arch Neurol Psychiat. 36:1936;1214-1224
17. Lennox W., Gibbs E. The intelligence and the lectroencephalograms of normal and epileptic twins. Trans Am Neurol Assoc. 70:1944;182-184
18. Lennox W., Gibbs E., Gibbs F. The brain-wave pattern and hereditary trait. J Heredity. 36:1945;233-243
19. Vogel F. Über die Erblichkeit des normalen Electroencephalogramms. 1958;Thieme, Stuttgart
20. Vogel F. Of the genetic basis of fronto-precentral beta wave groups in human EEG. Humangenetik. 2:1966;227-237
21. Vogel F. Of the genetic basis of slow occipital beta waves in human EEG. Humangenetik. 2:1966;238-245
22. Stassen H.H., et al. Genetic determination of the human EEG. Survey of recent results on twins reared together and apart. Hum Genet. 80:1988;165-176
23. Steinlein O., et al. Localization of a gene for the human low-voltage EEG on 20q and genetic heterogeneity. Genomics. 12:1992;69-73
24. van Beijsterveldt C.E., et al. Heritability of human brain functioning as assessed by electroencephalography. Am J Hum Genet. 58:1996;562-573
25. Valatx J.L., Bugat R., Jouvet M. Genetic studies of sleep in mice. Nature. 238:1972;226-227
26. Tafti M., et al. Localization of candidate genomic regions influencing paradoxical sleep in mice. Neuroreport. 8:1997;3755-3758
27. Tafti M., et al. Quantitative trait loci approach to the genetics of sleep in recombinant inbred mice. J Sleep Res. 8:1999;37-43
28. Franken P., Malafosse A., Tafti M. Genetic variation in EEG activity during sleep in inbred mice. Am J Physiol. 275:1998;1127-1137
29. Franken P., Malafosse A., Tafti M. Genetic determinants of sleep regulation in inbred mice. Sleep. 22:1999;155-169
30. Franken P., Chollet D., Tafti M. The homeostatic regulation of sleep need is under genetic control. J Neurosci. 21:2001;2610-2621
31. Tafti M., et al. Deficiency in short chain fatty acid beta-oxidation affects theta oscillations during sleep. Nat Genet. 34:2003;320-325
32. Mignot E. Genetic and familial aspects of narcolepsy. Neurology. 50:1998;16-22
33. Mignot E., et al. Complex HLA DR and DQ interactions confer risk of narcolepsy cataplexy in three ethnic groups. Am J Hum Genet. 68:2001;686-699
34. Koch H., et al. Analysis of the monoamine oxidase genes and the Norrie disease gene locus in narcolepsy. Lancet. 353:1999;645-646
35. Dauvilliers Y., et al. MAO-A and COMT polymorphisms and gene effects in narcolepsy. Mol Psychiatry. 6:2001;367-372
36. Hohjoh H., et al. Significant association of a single nucleotide polymorphism in the tumor necrosis factor alpha gene promoter with human narcolepsy. Tissue Antigens. 54:1999;138-145
37. Hohjoh H., et al. Significant association of the tumor necrosis factor receptor 2 (TNFR2) gene with human narcolepsy. Tissue Antigens. 56:2000;446-448
38. Gencik M., et al. A preproorexin gene polymorphism is associated with narcolepsy. Neurology. 56:2000;115-117
39. Hungs M., et al. Polymorphisms in the vicinity of the hypocretin/orexin are not associated with human narcolepsy. Neurology. 57:2001;1893-1895
40. Peyron C., et al. A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nat Med. 6:2000;991-997
41. Nakayama J., et al. Linkage of human narcolepsy with HLA association to chromosome 4p13q21. Genomics. 65:2000;84-86
42. Lin L., et al. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell. 98:1999;365-376
43. Chemelli R., et al. Narcolepsy in orexin knockout mice, molecular genetics of sleep regulation. Cell. 98:1999;437-451
44. Hara J., et al. Genetic ablation of orexin neurons in mice results in narcolepsy, hypophagia, and obesity. Neuron. 30:2001;345-354
45. Thannickal T.C., et al. Reduced number of hypocretin neurons in human narcolepsy. Neuron. 27:2000;469-474
46. Nishino S., et al. Hypocretin (orexin) deficiency in human narcolepsy. Lancet. 355:2000;39-40
47. Dauvilliers Y., et al. CSF hypocretin1 levels in narcolepsy, KleineLevin syndrome and other hypersomnia and Neurological conditions. J Neurol Neurosurg Psychiatry. 74:2003;1667-1673
48. Khatami R., et al. Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway. Lancet. 363:2004;1199-1200
49. Dauvilliers Y., et al. A monozygotic twin pair discordant for narcolepsy and CSF hypocretin-1. Neurology. 62:2004;2137-2138
50. Lecendreux M., et al. Clinical efficacy of high-dose intravenous immunoglobulins near the onset of narcolepsy in a 10-year-old boy. J Sleep Res. 12:2003;347-348
51. Roth B., et al. Familial sleep paralysis. Schweiz Arch Neurol Neurochir Psychiatry. 102:1968;321-330
52. Dahlitz M., et al. Sleep paralysis. Lancet. 341:1993;406-407
53. Paradis C.M., et al. Isolated sleep paralysis in African Americans with panic disorder. Cult Divers Ment Health. 3:1997;68-76
54. Ferini-strambi L., et al. Snoring in twins. Respir Med. 89:1995;337-360
55. Palmer L.J., et al. A whole genome scan for obstructive sleep apnea and obesity. Am J Hum Genet. 72:2003;340-350
56. Dematteis M., et al. Charcot Marie Tooth disease and sleep apnoea syndrome, a family study. Lancet. 357:2001;267-272
57. Kawakami Y., et al. Chemical and behavioral control of breathing in twins. Am Rev Respir Dis. 129:1982;703-707
58. Amiel J., et al. Polyalanine expansion and frame-shift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 33:2003;459-461
59. Yoshizawa T., et al. Genetics and obstructive sleep apnea syndrome, a study of human leukocyte antigen (HLA) typing. Intern Med. 32:1993;94-97
60. Zhang J., et al. Angiotensin-converting enzyme gene insertion/deletion (I/D) polymorphism in hypertensive patients with different degrees of obstructive sleep apnea. Hypertens Res. 23:2000;407-411
61. Kadotani H., et al. Association between apolipoprotein E epsilon4 and sleep disordered breathing in adults. JAMA. 285:2001;2888-2890
62. Foley D.J., et al. Relationship between apolipoprotein E epsilon4 and sleep-disordered breathing at different ages. JAMA. 286:2001;1447-1448
63. Saarelainen S., et al. Association between apolipoprotein E alleles and autoantibodies against oxidized low-density lipoprotein. Clin Chem Lab Med. 38:2000;477-478
64. Lavie L., et al. Haptoglobin polymorphism is a risk factor for cardiovascular disease in patients with obstructive sleep apnea syndrome. Sleep. 26:2003;592-595
65. Abe K., Shimakawa M. Genetic-constitutional factor and childhood insomnia. Psychiatr Neurol. 152:1966;363-369
66. Hauri P., Olmstead E. Childhood-onset insomnia. Sleep. 3:1980;59-65
67. Bastien C.H., Morin C.M. Familial incidence of insomnia. J Sleep Res. 9:2000;49-54
68. McCarren M., et al. Insomnia in Vietnam era veteran twins: influence of genes and combat experience. Sleep. 17:1994;456-461
69. Roy-Byrne P., et al. Chronic fatigue and anxiety/depression: a twin study. Br J Psychiatry. 180:2002;29-34
70. Buhr A., et al. Functional characterization of the new human GABA(A) receptor mutation beta3(R192H). Hum Genet. 111:2002;154-160
71. Feusner J., et al. GABA(A) receptor beta 3 subunit gene and psychiatric morbidity in a post-traumatic stress disorder population. Psychiatry Res. 104:2001;109-117
72. Serretti A., et al. Genetic dissection of psychopathological symptoms: insomnia in mood disorders and CLOCK gene polymorphism. Am J Med Genet. 121:2003;35-38
73. Lugaresi E., et al. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med. 315:1986;997-1003
74. Montagna P., et al. Familial and sporadic fatal insomnia. Lancet Neurol. 2:2003;167-176
75. Ferrillo F., et al. Absence of sleep EEG markers in fatal familial insomnia healthy carriers: a spectral analysis study. Clin Neurophysiol. 112:2001;1888-1892
76. Plazzi G., et al. Does the prion protein gene 129 codon polymorphism influence sleep? Evidence from a fatal familial insomnia kindred. Clin Neurophysiol. 113:2002;1948-1953
77. Abe K., Shimakawa M. Predisposition to sleep-walking. Psychiatr Neurol. 152:1966;306-312
78. Kales A., et al. Hereditary factors in sleepwalking and night terrors. Br J Psychiatry. 137:1980;111-118
79. Bakwin H. Sleep-walking in twins. Lancet. 2:1970;446-447
80. Hublin C., et al. Prevalence and genetics of sleepwalking: a population-based twin study. Neurology. 48:1997;177-181
81. Lecendreux M., et al. HLA and genetic susceptibility to sleepwalking. Mol Psychiatry. 8:2003;114-117
82. Schenck C.H., et al. A parasomnia overlap disorder involving sleepwalking, sleep terrors, and REM sleep behavior disorder in 33 polysomnographically confirmed cases. Sleep. 20:1997;972-981
83. Olson E.J., Boeve B.F., Silber M.H. Rapid eye movement sleep behaviour disorder, demographic, clinical and laboratory findings in 93 cases. Brain. 123:2000;331-339
84. Schenk C.H., et al. HLA class II genes associated with REM behavior disorder. Ann Neurol. 39:1996;261-263
85. von Gontard A., et al. The genetics of enuresis, a review. J Urol. 166:2001;2438-2443
86. Eiberg H., Berendt I., Mohr J. Assignment of dominant inherited nocturnal enuresis (ENUR1) to chromosome 13q. Nat Genet. 10:1995;354-356
87. Deen P.M., Dahl N., Caplan M.J. The aquaporin-2 water channel in autosomal dominant primary nocturnal enuresis. J Urol. 167:2002;1447-1450
88. Drennan M.D., et al. Morningness/eveningness is heritable. Soc Neurosci. 8:1992;196
89. Horne J.A., Ostberg O. A self-assessment questionnaire to determine morningness-eveningness in human circadian rhythms. Int J Chronobiol. 4:1976;97-110
90. Katzenberg D., et al. A CLOCK polymorphism associated with human diurnal preference. Sleep. 21:1998;569-576
91. Robilliard D.L., et al. The 3111 Clock gene polymorphism is not associated with sleep and circadian rhythmicity in phenotypically characterized human subjects. J Sleep Res. 11:2002;305-312
92. Katzenberg D., et al. A human period gene (HPER1) polymorphism is not associated with diurnal preference in normal adults. Psychiatr Genet. 9:1999;107-109
93. Pedrazzoli M., et al. A polymorphism in the human timeless gene is not associated with diurnal preferences in normal adults. Sleep Res Online. 3:2000;73-76
94. Archer S.N., Robilliard D.L., Skene D.J. A length polymorphism in the circadian clock gene Per3 is linked to delayed sleep phase syndrome and extreme diurnal preference. Sleep. 26:2003;413-415
95. Toh K.L., et al. An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science. 29:2001;1040-1043
96. Satoh K., et al. Two pedigrees of familial advanced sleep phase syndrome in Japan. Sleep. 26:2003;416-417
97. Hohjoh H., et al. Possible association of human leucocyte antigen DR1 with delayed sleep phase syndrome. Psychiatry Clin Neurosci. 53:1999;527-529
98. Ebisawa T., et al. Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome. EMBO Rep. 2:2001;342-346
99. Hohjoh H., et al. Significant association of the arylalkylamine N-acetyltransferase (AA-NAT) gene with delayed sleep phase syndrome. Neurogenetics. 4:2003;151-153
100. Ebisawa T., et al. Allelic variants of human melatonin 1a receptor, function and prevalence in subjects with circadian rhythm sleep disorders. Biochem Biophys Res Commun. 262:1999;832-837
101. Ebisawa T., et al. Genetic polymorphisms of human melatonin 1b receptor gene in circadian rhythm sleep disorders and controls. Neurosci Lett. 280:2000;29-32
102. Montplaisir J., et al. Familial restless legs with periodic movements in sleep. Electrophysiological, biochemical, and pharmacological study. Neurology. 35:1985;130-134
103. Winkelmann J., et al. Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families. Ann Neurol. 52:2002;297-302
104. Ondo W.G., Vuong K.D., Wang Q. Restless legs syndrome in monozygotic twins, clinical correlates. Neurology. 55:2000;1404-1406
105. Desautels A., et al. Dopaminergic neurotransmission and restless legs syndrome. A genetic association analysis. Neurology. 57:2001;1304-1306
106. Desautels A., et al. Evidence for a genetic association between monoamine oxidase A and restless legs syndrome. Neurology. 59:2002;215-219
107. Desautels A., et al. Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q. Am J Hum Genet. 69:2001;1266-1270
108. Bonati M.T., et al. Autosomal dominant restless legs syndrome maps on chromosome 14q. Brain. 126:2003;1485-1492
109. Desautels A., et al. Mutational analysis of neurotensin in familial restless legs syndrome. Mov Disord. 19:2004;90-94
110. Dauvilliers Y., et al. Kleine-Levin syndrome: an autoimmune hypothesis based on clinical and genetic analyses. Neurology. 59:2002;1739-1745
111. Marshall L., Born J. Brain-immune interactions in sleep. Int Rev Neurobiol. 52:2002;93-131
112. Dauvilliers Y., et al. Sexual dimorphism of the catechol-O- methyltransferase gene in narcolepsy is associated with response to modafinil. Pharmacogenomics J. 2:2002;65-68