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Sci Rep. 2014 Sep 9;4:6309. doi: 10.1038/srep06309.

Screening of clock gene polymorphisms demonstrates association of a PER3 polymorphism with morningness-eveningness preference and circadian rhythm sleep disorder.

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Department of Psychophysiology, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8553, Japan.
Department of Psychiatry, Shiga University of Medical Science, Otsu, Shiga 520-2192, Japan.
Department of Psychiatry, Nihon University School of Medicine, Itabashi, Tokyo 173-8610, Japan.
Department of Psychiatry, Tokyo Metropolitan Police Hospital, Nakano, Tokyo 164-8541, Japan.
1] Department of Somnology, Tokyo Medical University, Shinjuku, Tokyo 160-8402, Japan [2] Yoyogi Sleep Disorder Center, Shibuya, Tokyo 151-0053, Japan.
Department of Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan.
Japan Foundation for Neuroscience and Mental Health, Kodaira, Tokyo 187-8551, Japan.


A system of self-sustained biological clocks controls the 24-h rhythms of behavioral and physiological processes such as the sleep-wake cycle. The circadian clock system is regulated by transcriptional and translational negative feedback loops of multiple clock genes. Polymorphisms in circadian clock genes have been associated with morningness-eveningness (diurnal) preference, familial advanced sleep phase type (ASPT), and delayed sleep phase type (DSPT). We genotyped single-nucleotide polymorphisms in circadian clock genes in 182 DSPT individuals, 67 free-running type (FRT) individuals, and 925 controls. The clock gene polymorphisms were tested for associations with diurnal preference and circadian rhythm sleep disorder (CRSD) phenotypes. The PER3 polymorphism (rs228697) was significantly associated with diurnal preference and the FRT phenotype. The minor allele of rs228697 was more prevalent in evening types than in morning types (sex-adjusted odds ratio (OR), 2.483, Bonferroni-corrected P = 0.012) and in FRT individuals compared with the controls (age- and sex-adjusted OR, 2.021, permutated P = 0.017). Our findings support the notion that PER3 polymorphisms could be a potential genetic marker for an individual's circadian and sleep phenotypes.

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