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

Sci Rep. 2017 Jul 31;7(1):6967. doi: 10.1038/s41598-017-06769-w.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Affect*
  • Aged
  • Circadian Rhythm*
  • Female
  • Gene Frequency
  • Humans
  • Italy
  • Male
  • Melatonin / analogs & derivatives
  • Melatonin / urine
  • Middle Aged
  • Period Circadian Proteins / genetics*
  • Photophobia / genetics
  • Polymorphism, Single Nucleotide*
  • Sleep
  • Surveys and Questionnaires
  • Young Adult

Substances

  • PER3 protein, human
  • Period Circadian Proteins
  • 6-sulfatoxymelatonin
  • Melatonin