Interactions of polymorphisms in different clock genes associated with circadian phenotypes in humans

Genetics and Molecular Biology

Mario Pedrazzoli²  Rodrigo Secolin²  Luiz Otávio Bastos Esteves¹  Danyella Silva Pereira¹  Bruna Del Vechio Koike¹  Fernando Mazzili Louzada¹  Iscia Lopes-cendes¹  Sergio Tufik¹ 

[1] ,Universidade de São Paulo Escola de Artes, Ciências e Humanidades São Paulo SP ,Brazil

关键词: clock genes;    gene interaction;    morningness-eveningness;    sleep;    circadian rhythm;   

DOI  :  10.1590/S1415-47572010005000092

来源: SciELO

【 摘 要 】

Several studies have shown that mutations and polymorphisms in clock genes are associated with abnormal circadian parameters in humans and also with more subtle non-pathological phenotypes like chronotypes. However, there have been conflicting results, and none of these studies analyzed the combined effects of more than one clock gene. Up to date, association studies in humans have focused on the analysis of only one clock gene per study. Since these genes encode proteins that physically interact with each other, combinations of polymorphisms in different clock genes could have a synergistic or an inhibitory effect upon circadian phenotypes. In the present study, we analyzed the combined effects of four polymorphisms in four clock genes (Per2, Per3, Clock and Bmal1) in people with extreme diurnal preferences (morning or evening). We found that a specific combination of polymorphisms in these genes is more frequent in people who have a morning preference for activity and there is a different combination in individuals with an evening preference for activity. Taken together, these results show that it is possible to detect clock gene interactions associated with human circadian phenotypes and bring an innovative idea of building a clock gene variation map that may be applied to human circadian biology.

【 授权许可】

CC BY   
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