Approaches to unravel the genetics of sleep
Tài liệu tham khảo
Altshuler, 2008, Genetic mapping in human disease, Science, 322, 881, 10.1126/science.1156409
Shaw, 2003, Perchance to dream: solving the mystery of sleep through genetic analysis, J Neurobiol, 54, 179, 10.1002/neu.10167
Saper, 2005, Hypothalamic regulation of sleep and circadian rhythms, Nature, 437, 1257, 10.1038/nature04284
Nofzinger, 2005, Functional neuroimaging of sleep, Semin Neurol, 25, 9, 10.1055/s-2005-867070
Ohayon, 2008, From wakefulness to excessive sleepiness: what we know and still need to know, Sleep Med Rev, 12, 129, 10.1016/j.smrv.2008.01.001
Bixler, 2005, Excessive daytime sleepiness in a general population sample: the role of sleep apnea, age, obesity, diabetes, and depression, J Clin Endocrinol Metab, 90, 4510, 10.1210/jc.2005-0035
Buysse, 2008, Prevalence, course, and comorbidity of insomnia and depression in young adults, Sleep, 31, 473, 10.1093/sleep/31.4.473
Andretic, 2008, Genetics of sleep, Annu Rev Genet, 42, 361, 10.1146/annurev.genet.42.110807.091541
Luciano, 2006, Individual differences in self-reported thought control: the role of the repressive coping style, Psicothema, 18, 228
de Castro, 2002, The influence of heredity on self-reported sleep patterns in free-living humans, Physiol Behav, 76, 479, 10.1016/S0031-9384(02)00699-6
Gregory, 2006, A twin-study of sleep difficulties in school-aged children, Child Dev, 77, 1668, 10.1111/j.1467-8624.2006.00966.x
Klei, 2005, Heritability of morningness–eveningness and self-report sleep measures in a family based sample of 521 Hutterites, Chronobiol Int, 22, 1041, 10.1080/07420520500397959
Dauvilliers, 2005, Family studies in insomnia, J Psychosom Res, 58, 271, 10.1016/j.jpsychores.2004.08.012
Ying He, 2009, The transcriptional repressor DEC2 regulates sleep length in mammals, Science, 325, 866, 10.1126/science.1174443
Visscher, 2008, Sizing up human height variation, Nat Genet, 40, 489, 10.1038/ng0508-489
Buysse, 2005, Insomnia state of the science: an evolutionary, evidence-based assessment, Sleep, 28, 1045
Collins, 1998, Mapping a disease locus by allelic association, Proc Natl Acad Sci USA, 95, 1741, 10.1073/pnas.95.4.1741
Hall, 1990, Linkage of early-onset familial breast cancer to chromosome 17q21, Science, 250, 1684, 10.1126/science.2270482
Miki, 1994, A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1, Science, 266, 66, 10.1126/science.7545954
Winkelmann, 2007, Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions, Nat Genet, 39, 1000, 10.1038/ng2099
Hallmayer, 2009, Narcolepsy is strongly associated with the T-cell receptor alpha locus, Nat Genet, 41, 708, 10.1038/ng.372
Toh, 2001, An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome, Science, 291, 1040, 10.1126/science.1057499
Xu, 2005, Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome, Nature, 434, 640, 10.1038/nature03453
Franken, 2007, A non-circadian role for clock-genes in sleep homeostasis: a strain comparison, BMC Neurosci, 8, 87, 10.1186/1471-2202-8-87
Merikangas, 1989, 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, 46, 1137, 10.1001/archpsyc.1989.01810120079012
Chiang, 2009, High-resolution mapping of copy-number alterations with massively parallel sequencing, Nat Methods, 6, 99, 10.1038/nmeth.1276
Cavalli-Sforza, 1994
Spielman, 1996, The TDT and other family-based tests for linkage disequilibrium and association, Am J Hum Genet, 59, 983
Devlin, 2004, Genomic control to the extreme, Nat Genet, 36, 1129, 10.1038/ng1104-1129
Price, 2006, Principal components analysis corrects for stratification in genome-wide association studies, Nat Genet, 38, 904, 10.1038/ng1847
Weisgraber, 1996, Human apolipoprotein E: the Alzheimer's disease connection, FASEB J, 10, 1485, 10.1096/fasebj.10.13.8940294
Curtis, 2006, Central and peripheral clocks in cardiovascular and metabolic function, Ann Med, 38, 552, 10.1080/07853890600995010
Archer, 2003, A length polymorphism in the circadian clock gene Per3 is linked to delayed sleep phase syndrome and extreme diurnal preference, Sleep, 26, 413, 10.1093/sleep/26.4.413
Jones, 2007, Age-related change in the association between a polymorphism in the PER3 gene and preferred timing of sleep and waking activities, J Sleep Res, 16, 12, 10.1111/j.1365-2869.2007.00561.x
Pereira, 2005, Association of the length polymorphism in the human Per3 gene with the delayed sleep-phase syndrome: does latitude have an influence upon it?, Sleep, 28, 29
Viola, 2007, PER3 polymorphism predicts sleep structure and waking performance, Curr Biol, 17, 613, 10.1016/j.cub.2007.01.073
Groeger, 2008, Early morning executive functioning during sleep deprivation is compromised by a PERIOD3 polymorphism, Sleep, 31, 1159
Viola, 2008, PER3 polymorphism and cardiac autonomic control: effects of sleep debt and circadian phase, Am J Physiol Heart Circ Physiol, 295, H2156, 10.1152/ajpheart.00662.2008
Goel, 2009, PER3 polymorphism predicts cumulative sleep homeostatic but not neurobehavioral changes to chronic partial sleep deprivation, PLoS One, 4, e5874, 10.1371/journal.pone.0005874
Ebisawa, 2001, Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome, EMBO Rep, 2, 342, 10.1093/embo-reports/kve070
Takano, 2004, 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, 29, 1901, 10.1038/sj.npp.1300503
Ebisawa, 2000, Genetic polymorphisms of human melatonin 1b receptor gene in circadian rhythm sleep disorders and controls, Neurosci Lett, 280, 29, 10.1016/S0304-3940(99)00981-7
Wisor, 2001, Dopaminergic role in stimulant-induced wakefulness, J Neurosci, 21, 1787, 10.1523/JNEUROSCI.21-05-01787.2001
Kume, 2005, Dopamine is a regulator of arousal in the fruit fly, J Neurosci, 25, 7377, 10.1523/JNEUROSCI.2048-05.2005
Yuan, 2006, A sleep-promoting role for the Drosophila serotonin receptor 1A, Curr Biol, 16, 1051, 10.1016/j.cub.2006.04.032
Krueger, 2003, Humoral links between sleep and the immune system: research issues, Ann NY Acad Sci, 992, 9, 10.1111/j.1749-6632.2003.tb03133.x
Kubota, 2001, Interleukin-15 and interleukin-2 enhance non-REM sleep in rabbits, Am J Physiol Regul Integr Comp Physiol, 281, R1004, 10.1152/ajpregu.2001.281.3.R1004
Williams, 2007, Interaction between sleep and the immune response in Drosophila: a role for the NFkappaB relish, Sleep, 30, 389, 10.1093/sleep/30.4.389
Cirelli, 2005, Reduced sleep in Drosophila Shaker mutants, Nature, 434, 1087, 10.1038/nature03486
Bushey, 2007, Drosophila hyperkinetic mutants have reduced sleep and impaired memory, J Neurosci, 27, 5384, 10.1523/JNEUROSCI.0108-07.2007
Seugnet, 2009, Identifying sleep regulatory genes using a Drosophila model of insomnia, J Neurosci, 29, 7148, 10.1523/JNEUROSCI.5629-08.2009
Koh, 2008, Identification of SLEEPLESS, a sleep-promoting factor, Science, 321, 372, 10.1126/science.1155942
Cirelli, 2000, Differential expression of plasticity-related genes in waking and sleep and their regulation by the noradrenergic system, J Neurosci, 20, 9187, 10.1523/JNEUROSCI.20-24-09187.2000
Wu, 2009, The effects of caffeine on sleep in Drosophila require PKA activity, but not the adenosine receptor, J Neurosci, 29, 11029, 10.1523/JNEUROSCI.1653-09.2009
Kramer, 2001, Regulation of daily locomotor activity and sleep by hypothalamic EGF receptor signaling, Science, 294, 2511, 10.1126/science.1067716
Pearson, 2008, How to interpret a genome-wide association study, JAMA, 299, 1335, 10.1001/jama.299.11.1335
Dermitzakis, 2009, Genetics. Life after GWA studies, Science, 326, 239, 10.1126/science.1182009
Manolio, 2009, Finding the missing heritability of complex diseases, Nature, 461, 747, 10.1038/nature08494
Cook, 2008, Copy-number variations associated with neuropsychiatric conditions, Nature, 455, 919, 10.1038/nature07458
Ng, 2009, Exome sequencing identifies the cause of a Mendelian disorder, Nat Genet
Gottlieb, 2007, Genome-wide association of sleep and circadian phenotypes, BMC Med Genet, 8, S9, 10.1186/1471-2350-8-S1-S9
Lasky-Su, 2008, 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, 147B, 1345, 10.1002/ajmg.b.30867
Neale, 2008, Genome-wide association scan of attention deficit hyperactivity disorder, Am J Med Genet B Neuropsychiatr Genet, 147B, 1337, 10.1002/ajmg.b.30866
Xiong, 2009, MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels, Hum Mol Genet, 18, 1065, 10.1093/hmg/ddn443
Didden, 2004, Sleep problems in individuals with Angelman syndrome, Am J Ment Retard, 109, 275, 10.1352/0895-8017(2004)109<275:SPIIWS>2.0.CO;2
Katzenberg, 1998, A CLOCK polymorphism associated with human diurnal preference, Sleep, 21, 569, 10.1093/sleep/21.6.569
Serretti, 2003, Genetic dissection of psychopathological symptoms: insomnia in mood disorders and CLOCK gene polymorphism, Am J Med Genet, 121B, 35, 10.1002/ajmg.b.20053
Mishima, 2005, 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, 133B, 101, 10.1002/ajmg.b.30110
Robilliard, 2002, The 3111 Clock gene polymorphism is not associated with sleep and circadian rhythmicity in phenotypically characterized human subjects, J Sleep Res, 11, 305, 10.1046/j.1365-2869.2002.00320.x
Iwase, 2002, Mutation screening of the human Clock gene in circadian rhythm sleep disorders, Psychiatry Res, 109, 121, 10.1016/S0165-1781(02)00006-9
Pedrazzoli, 2000, A polymorphism in the human timeless gene is not associated with diurnal preferences in normal adults, Sleep Res Online, 3, 73
Carpen, 2005, A single-nucleotide polymorphism in the 5′-untranslated region of the hPER2 gene is associated with diurnal preference, J Sleep Res, 14, 293, 10.1111/j.1365-2869.2005.00471.x
Carpen, 2006, A silent polymorphism in the PER1 gene associates with extreme diurnal preference in humans, J Hum Genet, 51, 1122, 10.1007/s10038-006-0060-y
Katzenberg, 1999, A human period gene (HPER1) polymorphism is not associated with diurnal preference in normal adults, Psychiatr Genet, 9, 107, 10.1097/00041444-199906000-00011
Johansson, 2003, Circadian clock-related polymorphisms in seasonal affective disorder and their relevance to diurnal preference, Neuropsychopharmacology, 28, 734, 10.1038/sj.npp.1300121