Association of CLOCK, ARNTL, PER2, and GNB3 polymorphisms with diurnal preference in a Korean population

Hye Min Song, Chul Hyun Cho, Heon Jeong Lee, Joung Ho Moon, Seung Gul Kang, Ho Kyoung Yoon, Young Min Park, Leen Kim

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)


Polymorphisms in human circadian genes are potential genetic markers that affect diurnal preference in several populations. In this study, we evaluated whether four polymorphisms in circadian genes CLOCK, ARNTL, PER2, and GNB3 were associated with diurnal preference in a Korean population. In all, 499 healthy subjects were genotyped for four functional polymorphisms in CLOCK, ARNTL, PER2, and GNB3. Composite scale of morningness (CSM) was applied to measure phenotype patterns of human diurnal preference. In addition, three subscale scores, i.e. “morningness,” “activity planning,” and “morning alertness,” were extracted from the CSM. No significant associations were observed between CSM scores and CLOCK (rs1801260) genotype or T allele carrier status, CSM scores and ARNTL (rs2278749) C allele carrier status, and CSM scores and GNB3 (rs5443) genotype or C allele carrier status. However, total CSM scores and scores of its subscales were significantly associated with PER2 (rs934945) genotype (p = 0.010, p = 0.018, and p = 0.005 for total, morningness, and activity planning, respectively) and G allele carrier status (p = 0.003, p = 0.005, and p = 0.002 for total, morningness, and activity planning, respectively). The best model result obtained by performing multifactor dimensionality reduction analysis (X2 = 11.2798, p = 0.0008) indicated that interaction among C/T single nucleotide polymorphism (SNP) in ARNTL, C/T SNP in GNB3, and G/A SNP in PER2 synergistically affected the risk associated with diurnal preference toward eveningness. These results suggest that circadian gene PER2 is associated with diurnal preference in healthy Korean population. Although polymorphisms in ARNTL and GNB3 were not significantly associated with diurnal preference, their interactions with the polymorphism in PER2 may synergistically increase the risk of diurnal preference toward eveningness.

Original languageEnglish
Pages (from-to)1455-1463
Number of pages9
JournalChronobiology International
Issue number10
Publication statusPublished - 2016 Nov 25


  • Diurnal preference
  • GNB3
  • PER2
  • polymorphism

ASJC Scopus subject areas

  • Physiology
  • Physiology (medical)


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