Association of the length polymorphism in the human PER3 gene with the delayed sleep-phase syndrome: Does latitude have an influence upon it?

Department of Psychobiology/Sleep Institute, Universidade Federal de São Paulo, Brazil.
Sleep (Impact Factor: 4.59). 02/2005; 28(1):29-32.
Source: PubMed


The objective of this study is to analyze the influence of a previously reported hPer3 gene-length polymorphism in the delayed sleep-phase syndrome and in morningness-eveningness tendencies at low latitudes in the southern hemisphere.
We have genotyped a length polymorphism in the hPer3 gene characterized by a short repeat allele (4-repeat) and a long repeat allele (5-repeat).
Seventeen patients with delayed sleep-phase syndrome; 156 volunteers chosen according to Horne-Ostberg questionnaire to have morning, intermediate, or evening preference; and 110 volunteers with no Horne-Ostberg score as a sample of the general population.
We have found a higher frequency of 5-repeat allele in the delayed sleep-phase syndrome group and an association of this polymorphism with diurnal preference.
Our results suggest that latitude has a role in the influence of hPer3 gene polymorphism on delayed sleep-phase syndrome and confirm previous data showing its association with morningness-eveningness tendencies.

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Available from: Fernando Mazzilli Louzada, Mar 04, 2015
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    • "E-mail: diurnal preference, daytime sleepiness and sleep structure (Archer et al., 2003; Jones et al., 2007; Lazar et al., 2012; Pereira et al., 2005; Viola et al., 2007; von Schantz, 2008) and could be involved in different signaling mechanisms (Dijk & Archer, 2010). A variable-number tandem repeat (VNTR, rs57875989) polymorphism in the exon 18 of PER3 gene has been identified, with two main alleles (4 and 5) which correspond to 4 or 5 repeats of 54 nucleotides (18 amino acids) (Archer et al., 2003; Ebisawa et al., 2001). "
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    ABSTRACT: Performance alterations in executive function have been studied as potential endophenotypes for several neuropsychiatric diseases. Planning is an important component of executive function and has been shown to be affected in diseases such as attention deficit hyperactivity disorder, schizophrenia, obsessive-compulsive disorder and Parkinson's disease. Several genes related to dopaminergic systems, such as COMT, have been explored as candidates for influencing planning performance. The circadian clock gene PERIOD3 (PER3) has been shown to be associated with several complex behaviors in humans and could be involved in different signaling mechanisms. In this study, we evaluated the possible association between a functional polymorphism in the PER3 gene (PER3-VNTR, rs57875989) and performance in a commonly used test of planning (Tower of London, TOL) in 229 healthy subjects from Bogotá, Colombia. PER3-VNTR genotyping was carried out with conventional PCR and all participants completed the TOL test using the computerized Psychology Experiment Building Language (PEBL) battery. A linear regression model was used for the analysis of association with the SNPStats program. We found that 4/4 genotype carriers showed a better performance and made fewer moves, in comparison to 4/5 and 5/5 genotype carriers (p = 0.003). These results appear to be independent from effects of this polymorphism on self-reported average hours of sleep during work days in our sample. This is the first evidence of an association between PER3-VNTR and planning performance in a sample of healthy subjects and our results are consistent from previous findings for alterations in other cognitive domains. Future studies examining additional genes could lead to the identification of novel molecular underpinnings of planning in healthy subjects and in patients with neuropsychiatric disorders.
    Chronobiology International 03/2015; 32(5):591-595. DOI:10.3109/07420528.2015.1014096 · 3.34 Impact Factor
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    • "L : D = light : dark, DD = dark : dark. be involved in the entrainment to differential seasonal light signals created by latitude [7] [12]. Based on the previous finding that the Per3 gene plays a role in circadian light sensitivity, the aim of this study was to analyse whether Per3 −/− mice respond differently to different photoperiods. "
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    ABSTRACT: The aim of this study was to analyse the circadian behavioural responses of mice carrying a functional knockout of the Per3 gene (Per3(-/-)) to different light : dark (L : D) cycles. Male adult wild-type (WT) and Per3(-/-) mice were kept under 12-hour light : 12-hour dark conditions (12L : 12D) and then transferred to either a short or long photoperiod and subsequently released into total darkness. All mice were exposed to both conditions, and behavioural activity data were acquired through running wheel activity and analysed for circadian characteristics during these conditions. We observed that, during the transition from 12L : 12D to 16L : 8D, Per3(-/-) mice take approximately one additional day to synchronise to the new L : D cycle compared to WT mice. Under these long photoperiod conditions, Per3(-/-) mice were more active in the light phase. Our results suggest that Per3(-/-) mice are less sensitive to light. The data presented here provides further evidence that Per3 is involved in the suppression of behavioural activity in direct response to light.
    BioMed Research International 05/2014; 2014(5):170795. DOI:10.1155/2014/170795 · 3.17 Impact Factor
    • "This was indeed the case, such that MT were more likely to be homozygous for the 5-repeat allele (PER3 5/5 ) and ET and also people with DSPD showing greater frequencies of PER3 4/4 homozygotes (Archer et al., 2003; Jones et al., 2007). The same association has been replicated in a Brazilian study (Pereira et al., 2005) and more recently in a separate UK-based study (Lázár et al., 2012). Whereas previous studies had only genotyped subjects with extreme CT phenotypes, the latter study investigated the association in 675 subjects who were not selected on the basis of their CT phenotype but nevertheless found that increased morning preference was associated with the PER3 5/5 genotype. "
    Personality and Individual Differences 04/2014; 60:S18. DOI:10.1016/j.paid.2013.07.384 · 1.86 Impact Factor
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