Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3

Abstract PER3 gene polymorphisms have been associated with differences in human sleep-wake phenotypes, and sensitivity to light. The aims of this study were to assess: i) the frequency of allelic variants at two PER3 polymorphic sites (rs57875989 length polymorphism: PER3 4, PER3 5; rs228697 SNP: PE...

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Autores principales: M. Turco, A. Biscontin, M. Corrias, L. Caccin, M. Bano, F. Chiaromanni, M. Salamanca, D. Mattei, C. Salvoro, G. Mazzotta, C. De Pittà, B. Middleton, D. J. Skene, S. Montagnese, R. Costa
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Publicado: Nature Portfolio 2017
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spelling oai:doaj.org-article:45d150f378f04978ba6a156d07b441c22021-12-02T16:08:19ZDiurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER310.1038/s41598-017-06769-w2045-2322https://doaj.org/article/45d150f378f04978ba6a156d07b441c22017-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-06769-whttps://doaj.org/toc/2045-2322Abstract PER3 gene polymorphisms have been associated with differences in human sleep-wake phenotypes, and sensitivity to light. The aims of this study were to assess: i) the frequency of allelic variants at two PER3 polymorphic sites (rs57875989 length polymorphism: PER3 4, PER3 5; rs228697 SNP: PER3 C, PER3 G) in relation to sleep-wake timing; ii) the effect of morning light on behavioural/circadian variables in PER3 4 /PER3 4 and PER3 5 /PER3 5 homozygotes. 786 Caucasian subjects living in Northern Italy donated buccal DNA and completed diurnal preference, sleep quality/timing and sleepiness/mood questionnaires. 19 PER3 4 /PER3 4 and 11 PER3 5 /PER3 5 homozygotes underwent morning light administration, whilst monitoring sleep-wake patterns and the urinary 6-sulphatoxymelatonin (aMT6s) rhythm. No significant relationship was observed between the length polymorphism and diurnal preference. By contrast, a significant association was observed between the PER3 G variant and morningness (OR = 2.10), and between the PER3 G-PER3 4 haplotype and morningness (OR = 2.19), for which a mechanistic hypothesis is suggested. No significant differences were observed in sleep timing/aMT6s rhythms between PER3 5 /PER3 5 and PER3 4 /PER3 4 subjects at baseline. After light administration, PER3 4 /PER3 4 subjects advanced their aMT6s acrophase (p < 0.05), and showed a trend of advanced sleep-wake timing. In conclusion, significant associations were observed between PER3 polymorphic variants/their combinations and both diurnal preference and the response to light.M. TurcoA. BiscontinM. CorriasL. CaccinM. BanoF. ChiaromanniM. SalamancaD. MatteiC. SalvoroG. MazzottaC. De PittàB. MiddletonD. J. SkeneS. MontagneseR. CostaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
M. Turco
A. Biscontin
M. Corrias
L. Caccin
M. Bano
F. Chiaromanni
M. Salamanca
D. Mattei
C. Salvoro
G. Mazzotta
C. De Pittà
B. Middleton
D. J. Skene
S. Montagnese
R. Costa
Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3
description Abstract PER3 gene polymorphisms have been associated with differences in human sleep-wake phenotypes, and sensitivity to light. The aims of this study were to assess: i) the frequency of allelic variants at two PER3 polymorphic sites (rs57875989 length polymorphism: PER3 4, PER3 5; rs228697 SNP: PER3 C, PER3 G) in relation to sleep-wake timing; ii) the effect of morning light on behavioural/circadian variables in PER3 4 /PER3 4 and PER3 5 /PER3 5 homozygotes. 786 Caucasian subjects living in Northern Italy donated buccal DNA and completed diurnal preference, sleep quality/timing and sleepiness/mood questionnaires. 19 PER3 4 /PER3 4 and 11 PER3 5 /PER3 5 homozygotes underwent morning light administration, whilst monitoring sleep-wake patterns and the urinary 6-sulphatoxymelatonin (aMT6s) rhythm. No significant relationship was observed between the length polymorphism and diurnal preference. By contrast, a significant association was observed between the PER3 G variant and morningness (OR = 2.10), and between the PER3 G-PER3 4 haplotype and morningness (OR = 2.19), for which a mechanistic hypothesis is suggested. No significant differences were observed in sleep timing/aMT6s rhythms between PER3 5 /PER3 5 and PER3 4 /PER3 4 subjects at baseline. After light administration, PER3 4 /PER3 4 subjects advanced their aMT6s acrophase (p < 0.05), and showed a trend of advanced sleep-wake timing. In conclusion, significant associations were observed between PER3 polymorphic variants/their combinations and both diurnal preference and the response to light.
format article
author M. Turco
A. Biscontin
M. Corrias
L. Caccin
M. Bano
F. Chiaromanni
M. Salamanca
D. Mattei
C. Salvoro
G. Mazzotta
C. De Pittà
B. Middleton
D. J. Skene
S. Montagnese
R. Costa
author_facet M. Turco
A. Biscontin
M. Corrias
L. Caccin
M. Bano
F. Chiaromanni
M. Salamanca
D. Mattei
C. Salvoro
G. Mazzotta
C. De Pittà
B. Middleton
D. J. Skene
S. Montagnese
R. Costa
author_sort M. Turco
title Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3
title_short Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3
title_full Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3
title_fullStr Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3
title_full_unstemmed Diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene PER3
title_sort diurnal preference, mood and the response to morning light in relation to polymorphisms in the human clock gene per3
publisher Nature Portfolio
publishDate 2017
url https://doaj.org/article/45d150f378f04978ba6a156d07b441c2
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