Polymorphisms in the circadian expressed genes PER3 and ARNTL2 are associated with diurnal preference and GNβ3 with sleep measures

Journal of Sleep Research

Volumn 23, Issue 5, 2014, Pages 595-604

  Parsons, Michael J ^a   Lester, Kathryn J ^b   Barclay, Nicola L ^c   Archer, Simon N ^d   Nolan, Patrick M ^a   Eley, Thalia C ^b   Gregory, Alice M ^e  

^a MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c NORTHUMBRIA UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF SURREY   (United Kingdom)

^e UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Circadian expressed genes; Genetic association; Single nucleotide polymorphisms; Sleep duration; Sleep quality

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN BETA 3; GUANINE NUCLEOTIDE BINDING PROTEIN BETA SUBUNIT; TRANSCRIPTION FACTOR ARNTL; TRANSCRIPTION FACTOR ARNTL2; UNCLASSIFIED DRUG; ARNTL2 PROTEIN, HUMAN; CIRCADIAN RHYTHM SIGNALING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN (G PROTEIN), BETA POLYPEPTIDE 3, HUMAN; HETEROTRIMERIC GUANINE NUCLEOTIDE BINDING PROTEIN; PER3 PROTEIN, HUMAN;

ADULT; ARNTL2 GENE; ARTICLE; CIRCADIAN RHYTHM; FEMALE; GENE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; LATENT PERIOD; LONGITUDINAL STUDY; MALE; MORNINGNESS EVENINGNESS QUESTIONNAIRE; PER3 GENE; PITTSBURGH SLEEP QUALITY INDEX; POPULATION RESEARCH; QUESTIONNAIRE; SINGLE NUCLEOTIDE POLYMORPHISM; SLEEP PARAMETERS; SLEEP QUALITY; SLEEP TIME; YOUNG ADULT; ADOLESCENT; GENE EXPRESSION REGULATION; GENETICS; GREAT BRITAIN; HOMEOSTASIS; PHYSIOLOGY; SLEEP; TIME FACTOR;

ADOLESCENT; ADULT; ARNTL TRANSCRIPTION FACTORS; CIRCADIAN CLOCKS; CIRCADIAN RHYTHM; FEMALE; GENE EXPRESSION REGULATION; GREAT BRITAIN; HETEROTRIMERIC GTP-BINDING PROTEINS; HOMEOSTASIS; HUMANS; MALE; PERIOD CIRCADIAN PROTEINS; POLYMORPHISM, GENETIC; SLEEP; SURVEYS AND QUESTIONNAIRES; TIME FACTORS; YOUNG ADULT;

EID: 84908894737     PISSN: 09621105     EISSN: 13652869     Source Type: Journal    
DOI: 10.1111/jsr.12144     Document Type: Article

References (55)

1. Allebrandt, K. V., Amin, N., Müller-Myhsok, B. et al. A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila. Mol. Psychiatry, 2013, 18: 122-132.
2. Archer, S. N., Robilliard, D. L., Skene, D. 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: 413-415.
3. Archer, S. N., Carpen, J. D., Gibson, M. et al. Polymorphism in the PER3 promoter associates with diurnal preference and delayed sleep phase disorder. Sleep, 2010, 33: 695-701.
4. Bae, K., Jin, X., Maywood, E. S., Hastings, M. H., Reppert, S. M. and Weaver, D. R. Differential functions of mPer1, mPer2, and mPer3 in the SCN circadian clock. Neuron, 2001, 30: 525-536.
5. Barclay, N. L., Eley, T. C., Buysse, D. J., Archer, S. N. and Gregory, A. M. Diurnal preference and sleep quality: same genes? A study of young adult twins. Chronobiol. Int., 2010a, 27: 278-296.
6. Barclay, N. L., Eley, T. C., Buysse, D. J., Rijsdijk, F. V. and Gregory, A. M. Genetic and environmental influences on different components of the Pittsburgh Sleep Quality Index and their overlap. Sleep, 2010b, 33: 659-668.
7. Barclay, N. L., Eley, T. C., Mill, J. et al. Sleep quality and diurnal preference in a sample of young adults: associations with 5HTTLPR, PER3 and CLOCK 3111. Am. J. Med. Genet. B Neuropsychiatr. Genet., 2011, 156: 681-690.
8. Barrett, J. C., Fry, B., Maller, J. and Daly, M. J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 2005, 21: 263-265.
9. Borbely, A. A. A two-process model of sleep regulation. Hum. Neurobiol., 1982, 1: 195-204.
10. Bunger, M. K., Wilsbacher, L. D., Moran, S. M. et al. Mop3 is an essential component of the master circadian pacemaker in mammals. Cell, 2000, 103: 1009-1017.
11. Buysse, D. J., Reynolds, C. F., Monk, T. H., Berman, S. R. and Kupfer, D. J. The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research. Psychiatry Res., 1989, 28: 192-213.
12. Byrne, E. M., Gehrman, P. R., Medland, S. E. et al. A genome-wide association study of sleep habits and insomnia. Am. J. Med. Genet. B Neuropsychiatr. Genet., 2013, 162: 439-451.
13. Carpen, J. D., von Schantz, M., Smits, M., Skene, D. J. and Archer, S. N. A silent polymorphism in the PER1 gene associates with extreme diurnal preference in humans. J. Hum. Genet., 2006, 51: 1122-1125.
14. Curie, T., Mongrain, V., Dorsaz, S., Mang, G. M., Emmenegger, Y. and Franken, P. Homeostatic and circadian contribution to EEG and molecular state variables of sleep regulation. Sleep, 2013, 51: 1122-1125.
15. Dickson, S. P., Wang, K., Krantz, I., Hakonarson, H. and Goldstein, D. B. Rare variants create synthetic genome-wide associations. PLoS Biol., 2010, 26: e1000294.
16. Ebisawa, T., Uchiyama, M., Kajimura, N. et al. Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome. EMBO J., 2001, 2: 342-346.
17. Eley, T. C., Liang, H. L., Plomin, R. et al. Parental familial vulnerability, family environment and their interactions as predictors of depressive symptoms in adolescents. J. Am. Acad. Child Adolesc. Psychiatry, 2004, 43: 298-306.
18. Evans, D. S., Parimi, N., Nievergelt, C. M. et al. Common genetic variants in ARNTL and NPAS2 and at chromosome 12p13 are associated with objectively measured sleep traits in the elderly. Sleep, 2013, 36: 431-446.
19. Franken, P. A role for clock genes in sleep homeostasis. Curr. Opin. Neurobiol., 2013, 23: 864-872.
20. Franken, P. and Dijk, D. J. Circadian clock genes and sleep homeostasis. Eur. J. Neurosci., 2009, 29: 1820-1829.
21. Franken, P., Thomason, R., Heller, H. C. and O'Hara, B. F. A non-circadian role for clock-genes in sleep homeostasis: a strain comparison. BMC Neurosci., 2007, 8: 87.
22. Godinho, S. I., Maywood, E. S., Shaw, L. et al. The after-hours mutant reveals a role for Fbxl3 in determining mammalian circadian period. Science, 2007, 316: 897-900.
23. Hasan, S., van der Veen, D. R., Winsky-Sommerer, R., Dijk, D. J. and Archer, S. N. Altered sleep and behavioral activity phenotypes in PER3-deficient mice. Am. J. Physiol. Regul. Integr. Comp. Physiol., 2011, 301: R1821-R1830.
24. Horne, J. A. and Oostburg, O. A self-assessment questionnaire to determine morningness-eveningness in human circadian rhythms. Int. J. Chronobiol., 1976, 4: 97-110.
25. Hughes, M. E., DiTacchio, L., Hayes, K. R. et al. Harmonics of circadian gene transcription in mammals. PLoS Genet., 2009, 5: e1000442.
26. Johansson, C., Willeit, M., Smedh, C. et al. Circadian clock-related polymorphisms in seasonal affective disorder and their relevance to diurnal preference. Neuropsychopharmacology, 2003, 28: 734-739.
27. Johansson, C., Willeit, M., Aron, L. et al. Seasonal affective disorder and the G-protein beta-3-subunit C825T polymorphism. Biol. Psychiatry, 2004, 55: 317-319.
28. Katzenberg, D., Young, T., Finn, L. et al. A CLOCK polymorphism associated with human diurnal preference. Sleep, 1998, 21: 569-576.
29. Kerkhof, G. A. Differences between morning-types and evening-types in the dynamics of EEG slow wave activity during night sleep. Electroencephalogr. Clin. Neurophysiol., 1991, 78: 197-202.
30. Kerkhof, G. A. The 24-hour variation of mood differs between morning- and evening-type individuals. Percept. Mot. Skills, 1998, 86: 264-266.
31. Kopp, C., Albrecht, U., Zheng, B. and Tobler, I. Homeostatic sleep regulation is preserved in mPer1 and mPer2 mutant mice. Eur. J. Neurosci., 2002, 16: 1099-1106.
32. Lee, H. J., Paik, J. W., Kang, S. G., Lim, S. W. and Kim, L. Allelic variants interaction of CLOCK gene and G-protein beta3 subunit gene with diurnal preference. Chronobiol. Int., 2007, 24: 589-597.
33. Lee, H. J., Kim, L., Kang, S. G. et al. PER2 variation is associated with diurnal preference in a Korean young population. Behav. Genet., 2011, 41: 273-277.
34. Lewis, C. M. and Knight, J. Introduction to genetic association studies. Cold Spring Harb. Protoc., 2012, 2012: 297-306.
35. Manolio, T. A., Collins, F. S., Cox, N. J. et al. Finding the missing heritability of complex diseases. Nature, 2009, 461: 747-753.
36. McAdams, T. A., Gregory, A. M., Rowe, R. et al. The genesis 12-19 (G1219) study: a twin and sibling study of gene-environment interplay and adolescent development in the UK. Twin Res. Hum. Genet., 2013, 16: 134-143.
37. Millan, M. J., Marin, P., Bockaert, J. and Mannoury la Cour, C. Signaling at G-protein-coupled serotonin receptors: recent advances and future research directions. Trends Pharmacol. Sci., 2008, 29: 454-464.
38. Mongrain, V., Lavoie, S., Selmaoui, B., Paquet, J. and Dumont, M. Phase relationships between sleep-wake cycle and underlying circadian rhythms in morningness-eveningness. J. Biol. Rhythms, 2004, 19: 248-257.
39. Mongrain, V., Carrier, J. and Dumont, M. Circadian and homeostatic sleep regulation in morningness-eveningness. J. Sleep Res., 2006, 15: 162-166.
40. Murillo-Rodriguez, E., Arias-Carrion, O., Zavala-Garcia, A. et al. Basic sleep mechanisms: an integrative review. Cent. Nerv. Syst. Agents Med. Chem., 2012, 12: 38-54.
41. Partinen, M., Kaprio, J., Koskenvuo, M., Putkonen, P. and Langinvainio, H. Genetic and environmental determination of human sleep. Sleep, 1983, 6: 179-185.
42. Pedrazzoli, M., Louzada, F. M., Pereira, D. S. et al. Clock polymorphisms and circadian rhythms phenotypes in a sample of the Brazilian population. Chronobiol. Int., 2007, 24: 1-8.
43. Randler, C. and Kretz, S. Assortative mating in morningness-eveningness. Int. J. Psychol., 2011, 46: 91-96.
44. Rogers, W. H. Regression standard errors in clustered samples. Stata Tech. Bull., 1993, 13: 19-23.
45. Schmidt, C., Collette, F., Leclercq, Y. et al. Homeostatic sleep pressure and responses to sustained attention in the suprachiasmatic area. Science, 2009, 324: 516-519.
46. Shi, J., Wittke-Thompson, J. K., Badner, J. A. et al. Clock genes may influence bipolar disorder susceptibility and dysfunctional circadian rhythm. Am. J. Med. Genet. B Neuropsychiatr. Genet., 2008, 147B: 1047-1055.
47. Shi, S., Hida, A., McGuinness, O. P., Wasserman, D. H., Yamazaki, S. and Johnson, C. H. Circadian clock gene Bmal1 is not essential; functional replacement with its paralog, Bmal2. Curr. Biol., 2010, 20: 316-321.
48. Siffert, W., Rosskopf, D., Siffert, G. et al. Association of a human G-protein beta3 subunit variant with hypertension. Nat. Genet., 1998, 18: 45-48.
49. StataCorp. Stata Statistical Software: Release 8. StataCorp LP, College Station, TX, 2002.
50. Taillard, J., Philip, P., Coste, O., Sagaspe, P. and Bioulac, B. The circadian and homeostatic modulation of sleep pressure during wakefulness differs between morning and evening chronotypes. J. Sleep Res., 2003, 12: 275-282.
51. Toh, K. L., Jones, C. R., He, Y. et al. An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science, 2001, 291: 1040-1043.
52. van der Veen, D. R. and Archer, S. N. Light-dependent behavioral phenotypes in PER3-deficient mice. J. Biol. Rhythms., 2010, 25: 3-8.
53. Viola, A. U., Archer, S. N. and James, L. M. PER3 polymorphism predicts sleep structure and waking performance. Curr. Biol., 2007, 17: 613-618.
54. Wisor, J. P., O'Hara, B. F., Terao, A. et al. A role for cryptochromes in sleep regulation. BMC Neurosci., 2002, 3: 20.
55. Zhang, E. E. and Kay, S. A. Clocks not winding down: unravelling circadian networks. Nat. Rev. Mol. Cell Biol., 2010, 11: 764-776.