Polymorphism in the PER3 promoter associates with diurnal preference and delayed sleep phase disorder.

Archer SN, Carpen JD, Gibson M, Lim GH, Johnston JD, Skene DJ, von Schantz M. Sleep. 2010 May 3;(5):695-701.

This study investigated the circadian genetic influence on sleep disorders and chronotypes. Visitors to the London Science Museum were recruited and completed the Horne-Östberg diurnal preference questionnaire and provided buccal DNA samples. In addition, a second patient population of individuals diagnosed with delayed sleep phase disorder (DSPD) were investigated. The authors found that those with the rs2797687 SNP on per3 were more likely to have DSPD compared to individuals with an evening chronotype. The TA2G haplotype was also associated with DSPD, as compared to evening chronotypes.

rs2797687 SNP in per3

per3 rs2797687

NCBI Variation Viewer rs2797687

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