Parsons, Michael J.; Lester, Kathryn J.; Barclay, Nicola L.; Archer, Simon N.; Nolan, Patrick M.; Eley, Thalia C. and Gregory, Alice M.. 2014. Polymorphisms in the circadian expressed genes PER3 and ARNTL2 are associated with diurnal preference and GNB3 with sleep measures. Journal of Sleep Research, 23(5), pp. 595-604. ISSN 0962-1105 [Article]

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Abstract or Description

Sleep and circadian rhythms are intrinsically linked, with several sleep traits, including sleep timing and duration, influenced by both sleep homeostasis and the circadian phase. Genetic variation in several circadian genes has been associated with diurnal preference (preference in timing of sleep), although there has been limited research on whether they are associated with other sleep measurements. We investigated whether these genetic variations were associated with diurnal preference (Morningness–Eveningness Questionnaire) and various sleep measures, including: the global Pittsburgh Sleep Quality index score; sleep duration; and sleep latency and sleep quality. We genotyped 10 polymorphisms in genes with circadian expression in participants from the G1219 sample (n = 966), a British longitudinal population sample of young adults. We conducted linear regressions using dominant, additive and recessive models of inheritance to test for associations between these polymorphisms and the sleep measures. We found a significant association between diurnal preference and a polymorphism in period homologue 3 (PER3) (P < 0.005, recessive model) and a novel nominally significant association between diurnal preference and a polymorphism in aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2) (P < 0.05, additive model). We found that a polymorphism in guanine nucleotide binding protein beta 3 (GNb3) was associated significantly with global sleep quality (P < 0.005, recessive model), and that a rare polymorphism
in period homologue 2 (PER2) was associated significantly with both sleep duration and quality (P < 0.0005, recessive model). These findings suggest that genes with circadian expression may play a role in regulating both the circadian clock and sleep homeostasis, and highlight the importance of further studies aimed at dissecting the specific roles that circadian genes play in these two interrelated but unique behaviours.

Item Type:	Article
Identification Number (DOI):	https://doi.org/10.1111/jsr.12144
Additional Information:	Wave 4 of the G1219 study was supported by grants from the Economic and Social Research Council (RES-000-22-2206) and the Institute of Social Psychiatry to Alice M. Gregory. Funding for DNA extraction was provided by the Goldsmiths Early Career Award to Alice M. Gregory. Funding for the genotyping was provided by a Medical Research Council Core Grant (Nolan). Waves 1–3 of the G1219 study were supported by grants from the Wellcome Trust Grant Foundation and a Medical Research Council Training Fellowship and Career Development Award to Thalia C. Eley.
Keywords:	circadian expressed genes, genetic association, single nucleotide polymorphisms, sleep duration, sleep quality
Departments, Centres and Research Units:	Psychology
Dates:	Date Event 2 February 2014 Accepted 17 March 2014 Published Online 25 September 2014 Published
Item ID:	10523
Date Deposited:	23 Jul 2014 16:33
Last Modified:	21 Apr 2021 14:46
Peer Reviewed:	Yes, this version has been peer-reviewed.
URI:	https://research.gold.ac.uk/id/eprint/10523

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