A length polymorphism in the circadian clock gene Per3 is linked to delayed sleep phase syndrome and extreme diurnal preference

Simon N. Archer, Donna L. Robilliard, Debra J. Skene, Marcel Smits, Adrian Williams, Josephine Arendt, Malcolm von Schantz*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

545 Citations (Scopus)

Abstract

Study Objectives: To investigate the link between extreme diurnal preference, delayed sleep phase syndrome, and a length polymorphism in Per3. Design: Subjects were genotyped using polymerase chain reaction. Patients or Participants: Subjects with defined diurnal preference as determined by the Horne-Östberg questionnaire and patients with delayed sleep phase syndrome. Measurements and Results: The Per3 polymorphism correlated significantly with extreme diurnal preference, the longer allele associating with morningness and the shorter allele with eveningness. The shorter allele was strongly associated with the delayed sleep phase syndrome patients, 75% of whom were homozygous. Conclusion: The length of the Per3 repeat region identifies a potential genetic marker for extreme diurnal preference.

Original languageEnglish
Pages (from-to)413-415
Number of pages3
JournalSleep
Volume26
Issue number4
DOIs
Publication statusPublished - 1 Jun 2003
Externally publishedYes

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