Association of the Serotonin 2A Receptor rs6311 Polymorphism with Diurnal Preference in Koreans

Evidence for the association between circadian rhythm delay and depression is accumulating. Genetic studies have shown that certain polymorphisms in circadian genes are potential genetic markers of diurnal preference. Along with circadian genes, there is a growing interest in other genetic effects on circadian rhythms. This study evaluated whether the HTR2A rs6311 (-1438C/T) polymorphism is associated with diurnal preference in a Korean population.

A total of 510 healthy subjects were included in this study. All subjects were genotyped for the HTR2A rs6311 polymorphism and they completed the Korean version of the composite scale of morningness (CSM).

The C allele carriers (C/C+C/T) showed significantly higher CSM scores compared to C allele non-carriers (T/T) (t=2.22, p= 0.03), suggesting the existence of a morning chronotype tendency in C allele carriers. In other words, the T/T genotype may be associated with the evening chronotype.

These results suggest that the HTR2A rs6311 polymorphism may be associated with diurnal preference in a healthy Korean population. The absence of the C allele may be responsible for the increasing susceptibility to eveningness in the Korean population. Further studies on HTR2A polymorphisms that evaluate their interactions with various candidate genes and differences in phenotypic expression of polymorphisms according to ethnic groups are warranted to fully understand their association with diurnal preference.