Abstract
A possible relationship between human circadian rhythmicity and polymorphisms in clock genes have been documented. However, these data are controversial, and studies both corroborating and denying them have been reported. T3111C Clock polymorphism had been associated with the human evening preference, however, this association has not been confirmed. Moreover, C111G Per2 polymorphism has been associated with the “morning larks” chronotype in one study, not yet replicated. We have, therefore, performed this study to evaluate whether Per2 C111G and Clock T3111C polymorphisms might influence sleep circadian rhythmicity in a sample of 219 Italian volunteers. A possible interaction between these polymorphisms was also investigated. No differences in Per2 C111G and Clock T3111C allele and genotype frequencies were found, and none of the combined Clock T3111C–Per2 C11G genotypes resulted more frequent in one group compared to the others. Present results do not support a role of these polymorphisms in the circadian phenotypes.
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References
Borbely AA (1982) A two process model of sleep regulation. Hum Neurobiol 1:195–204
Daan S, Beersma DG, Borbely AA (1984) Timing of human sleep: recovery process gated by a circadian pacemaker. Am J Physiol 246:161–183
Hirayama J, Sassone-Corsi P (2005) Structural and functional features of transcription factors controlling the circadian clock. Curr Opin Genet Dev 15:548–556
Katzenberg D, Young T, Finn L, Lin L, King DP, Takahashi JS, Mignot EA (1998) CLOCK polymorphism associated with human diurnal preference. Sleep 21:569–576
Mishima K, Tozawa T, Satoh K, Saitoh H, Mishima Y (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 133:101–104
Robilliard DL, Archer SN, Arendt J, Lockley SW, Hack LM, English J, Leger D, Smits MG, Williams A, Skene DJ, Von Schantz M (2002) The 3111 Clock gene polymorphism is not associated with sleep and circadian rhythmicity in phenotypically characterized human subjects. J Sleep Res 11:305–312
Pedrazzoli M, Louzada FM, Pereira DS, Benedito-Silva AA, Lopez AR, Martynhak BJ, Korczak AL, Koike Bdel V, Barbosa AA, D’Almeida V, Tufik S (2007) Clock polymorphisms and circadian rhythms phenotypes in a sample of the Brazilian population. Chronobiol Int 24:1–8
Carpen JD, Archer SN, Skene DJ, Smits M, von Schantz M (2005) A single-nucleotide polymorphism in the 5′-untranslated region of the hPER2 gene is associated with diurnal preference. J Sleep Res 14:293–297
Horne JA, Ostberg O (1976) A self-assessment questionnaire to determine morningness–eveningness in human circadian rhythms. Int J Chronobiol 4:97–110
Tonetti L, Fabbri M, Natale V (2008) Sex difference in sleep-time preference and sleep need: a cross-sectional survey among Italian pre-adolescents, adolescents, and adults. Chronobiol Int 25:745–759
Buysse DJ, Reynolds CF III, Monk TH, Berman SR, Kupfer DJ (1989) The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research. Psychiatry Res 28:193–213
O’Hara BF, Ding J, Bernat RL, Franken P (2007) Genomic and proteomic approaches towards an understanding of sleep. CNS Neurol Disord Drug Targets 6:71–81
Vitaterna MH, King DP, Chang AM, Kornhauser JM, Lowrey PL, McDonald JD, Dove WF, Pinto LH, Turek FW, Takahashi JS (1994) Mutagenesis and mapping of a mouse gene, Clock, essential for circadian behavior. Science 264:719–725
Naylor E, Bergmann BM, Krauski K, Zee PC, Takahashi JS, Vitaterna MH, Turek FW (2000) The circadian clock mutation alters sleep homeostasis in the mouse. J Neurosci 20:8138–8143
Shiromani PJ, Xu M, Winston EM, Shiromani SN, Gerashchenko D, Weaver DR (2004) Sleep rhythmicity and homeostasis in mice with targeted disruption of mPeriod genes. Am J Physiol Regul Integr Comp Physiol 287:R47–R57
Pereira DS, Tufik S, Louzada FM, Benedito-Silva AA, Lopez AR, Lemos NA (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 28:29–32
Ciarleglio CM, Ryckman KK, Servick SV, Hida A, Robbins S, Wells N, Hicks J, Larson SA, Wiedermann JP, Carver K, Hamilton N, Kidd KK, Kidd JR, Smith JR, Friedlaender J, McMahon DG, Williams SM, Summar ML, Johnson CH (2008) Genetic differences in human circadian clock genes among worldwide populations. J Biol Rhythms 23:330–340
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This work was performed in the frame of AMBISEN Center, High Technology Center for the study of the Environmental Damage of Endocrine and Nervous System, University of Pisa.
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Choub, A., Mancuso, M., Coppedè, F. et al. Clock T3111C and Per2 C111G SNPs do not influence circadian rhythmicity in healthy Italian population. Neurol Sci 32, 89–93 (2011). https://doi.org/10.1007/s10072-010-0415-1
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DOI: https://doi.org/10.1007/s10072-010-0415-1