A CLOCK Polymorphism Associated with Human Diurnal Preference

Katzenberg, D R; Young, Terry; Finn, Laurel; Lin, Ling; King, David P.; Takahashi, Joseph S.; Mignot, Emmanuel

doi:10.1093/sleep/21.6.569

Cited by 548 publications

(366 citation statements)

References 28 publications

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“…17 Although we did not perform any assessment of sleep patterns in our subjects, it is of interest that the rs1801260 polymorphism has previously been associated with sleep dysregulation in humans in many [31][32][33][34][35][36][37][38] but not all studies. 39 These findings, together with the present results may provide genetic evidence to support epidemiological studies associating sleep disturbance with the development of diabetes and obesity.…”

Section: Discussionmentioning

confidence: 99%

Association between polymorphisms in the Clock gene, obesity and the metabolic syndrome in man

2007

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Objective: Accumulating evidence raises the hypothesis that dysregulation of intrinsic clock mechanisms are involved in the development of the metabolic syndrome, type 2 diabetes mellitus and cardiovascular disease. The aim of the present study was to investigate the relationship between three known common polymorphisms in the Clock gene and features of the metabolic syndrome in man. Methods: Genotype and haplotype analysis was carried out in a cohort of 537 individuals from 89 families characterized for inflammatory, atherothrombotic and metabolic risk associated with insulin resistance. Results: Heritability of the metabolic syndrome, defined according to International Diabetes Federation criteria, was 0.40. Haplotype analysis indicated three common haplotypes: CAT, TGT and CGC (rs4864548-rs3736544-rs1801260) with frequencies of 31, 33 and 28%, respectively. The CGC haplotype was less prevalent in subjects with the metabolic syndrome (P ¼ 0.0015) and was associated with lower waist circumference (P ¼ 0.007), lower hip circumference (P ¼ 0.023), lower body mass index (P ¼ 0.043) and lower leptin levels (P ¼ 0.028). The CAT haplotype was significantly associated with the presence of the metabolic syndrome (P ¼ 0.020). Conclusions: These findings suggest that the Clock gene CGC haplotype may be protective for the development of obesity and support the hypothesis that genetic variation in the Clock gene may play a role in the development of the metabolic syndrome, type 2 diabetes and cardiovascular disease.

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Section: Discussionmentioning

confidence: 99%

Association between polymorphisms in the Clock gene, obesity and the metabolic syndrome in man

2007

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“…A subset of the material (82 patients and 82 controls) has also been investigated for other serotonin-related polymorphisms (Johansson et al, 2001), but because of the limited number of samples this was not corrected for here. The power calculation was performed as described elsewhere (Johansson et al, 2001), assuming a ¼ 0.01, b ¼ 0.20, and allele frequencies in the control group identical to a previously published study (Katzenberg et al, 1998), or, when there were no previous reports, the observed frequencies. The distribution of GSS or MES within groups under analysis sometimes deviated from the normal distribution (data not shown), and therefore both parametric (one-way ANOVA or unpaired t-test) and nonparametric (Kruskal-Wallis or Wilcoxon rank sum) test methods were used when appropriate.…”

Section: Discussionmentioning

confidence: 99%

“…We have genotyped European SAD patients and healthy matched controls for four single nucleotide polymorphisms in genes related to intrinsic circadian oscillators; CLOCK 3111 C/T (Katzenberg et al, 1998), Period2 1244 Gly/Glu (NCBI dbSNP database (www.ncbi.nlm.nih.gov): rs934945), Period3 647 Val/Gly (Ebisawa et al, 2001), and NPAS2 471 Leu/Ser (Celera Human SNP Database (www.cds.celera. com): CV2153849).…”

Section: Introductionmentioning

confidence: 99%

“…There are studies reporting that CLOCK 3111 C/T, which is located in the 3 0 flanking region of the CLOCK gene, is associated with diurnal preference (Katzenberg et al, 1998), but not major depressive disorder (Desan et al, 2000), and Period3 647 Val/Gly is suggested to be the causative polymorphism in a Period3 haplotype associated with delayed sleep phase syndrome (Ebisawa et al, 2001). There are no published association studies for Period2 1244 Gly/Glu or NPAS2 471 Leu/Ser.…”

Section: Introductionmentioning

confidence: 99%

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Circadian Clock-Related Polymorphisms in Seasonal Affective Disorder and their Relevance to Diurnal Preference

Johansson

Willeit

Smedh

et al. 2002

Neuropsychopharmacol

310

194

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Disturbed circadian rhythms have been observed in seasonal affective disorder (SAD). The aim of this study was to further investigate this connection, and to test for potential association between polymorphisms in circadian clock-related genes and SAD, seasonality (seasonal variations in mood and behavior), or diurnal preference (morningness-eveningness tendencies). A total of 159 European SAD patients and 159 matched controls were included in the genetic analysis, and subsets were screened for seasonality (n ¼ 177) and diurnal preference (n ¼ 92). We found that diurnal preference was associated with both SAD and seasonality, supporting the hypothesis of a link between circadian rhythms and seasonal depression. The complete case-control material was genotyped for polymorphisms in the CLOCK, Period2, Period3, and NPAS2 genes. A significant difference between patients and controls was found for NPAS2 471 Leu/Ser (w 2 ¼ 9.90, Bonferroni corrected P ¼ 0.035), indicating a recessive effect of the leucine allele on disease susceptibility (w 2 ¼ 6.61, Bonferroni corrected P ¼ 0.050). Period3 647 Val/Gly was associated with self-reported morningness-eveningness scores (n ¼ 92, oneway ANOVA: F ¼ 4.99, Bonferroni corrected P ¼ 0.044), with higher scores found in individuals with at least one glycine allele (t ¼ 3.1, Bonferroni corrected P ¼ 0.013). A second, population-based sample of individuals selected for high (n ¼ 127) or low (n ¼ 98) degrees of seasonality, was also genotyped for NPAS2 471 Leu/Ser. There was no significant difference between these seasonality extreme groups, and none of the polymorphisms studied were associated with seasonality in the SAD case-control material (n ¼ 177). In conclusion, our results suggest involvement of circadian clock-related polymorphisms both in susceptibility to SAD and diurnal preference.

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“…Even individuals that are genetically predisposed towards "eveningness" (a preference for the evening) versus "morningness" (a preference for the morning) are more likely to develop depression (Drennan et al, 1991;Chelminski et al, 1999). Genetic variations in the circadian genes have been found to associate with these sleep disorders and diurnal preference measures including an association between certain variants of Per2, and CK1δ with FASPS; Per3, CLOCK, and CK1ε with DSPS; and Per1, Per2, Per3 and CLOCK with diurnal preference (Katzenberg et al, 1998;Iwase et al, 2002;Archer et al, 2003;Johansson et al, 2003;Takano et al, 2004;Carpen et al, 2005;Mishima et al, 2005;Xu et al, 2005;Carpen et al, 2006;Vanselow et al, 2006). This suggests a connection between proper mood regulation and a normal functioning circadian clock.…”

Section: A Generally Disrupted Clockmentioning

confidence: 99%

Circadian genes, rhythms and the biology of mood disorders

McClung

2007

Pharmacology & Therapeutics

585

386

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For many years, researchers have suggested that abnormalities in circadian rhythms may underlie the development of mood disorders such as bipolar disorder, major depression and seasonal affective disorder. Furthermore, some of the treatments that are currently employed to treat mood disorders are thought to act by shifting or "resetting" the circadian clock, including total sleep deprivation and bright light therapy. There is also reason to suspect that many of the mood stabilizers and antidepressants used to treat these disorders may derive at least some of their therapeutic efficacy by affecting the circadian clock. Recent genetic, molecular and behavioral studies implicate individual genes that make up the clock in mood regulation. As well, important functions of these genes in brain regions and neurotransmitter systems associated with mood regulation is becoming apparent. In this review, the evidence linking circadian rhythms and mood disorders, and what is known about the underlying biology of this association, is presented.

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A CLOCK Polymorphism Associated with Human Diurnal Preference

Cited by 548 publications

References 28 publications

Association between polymorphisms in the Clock gene, obesity and the metabolic syndrome in man

Association between polymorphisms in the Clock gene, obesity and the metabolic syndrome in man

Circadian Clock-Related Polymorphisms in Seasonal Affective Disorder and their Relevance to Diurnal Preference

Circadian genes, rhythms and the biology of mood disorders

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