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

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

Author Pedrazzoli, Mario Autor UNIFESP Google Scholar
Secolin, Rodrigo Google Scholar
Esteves, Luiz Otávio Bastos Autor UNIFESP Google Scholar
Pereira, Danyella Silva Autor UNIFESP Google Scholar
Koike, Bruna Del Vechio Autor UNIFESP Google Scholar
Louzada, Fernando Mazzili Google Scholar
Lopes-Cendes, Iscia Google Scholar
Tufik, Sergio Autor UNIFESP Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Estadual de Campinas (UNICAMP)
Universidade Federal de São Paulo (UNIFESP)
Universidade Federal do Paraná Departamento de Fisiologia
Abstract 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.
Keywords clock genes
gene interaction
morningness-eveningness
sleep
circadian rhythm
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Grant number FAPESP: 98/14303-3
CNPq: 49028/2004-6
CAPES: 0674/07-9
Date 2010-01-01
Published in Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 33, n. 4, p. 627-632, 2010.
ISSN 1415-4757 (Sherpa/Romeo, impact factor)
Publisher Sociedade Brasileira de Genética
Extent 627-632
Origin http://dx.doi.org/10.1590/S1415-47572010005000092
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000286321000005
SciELO ID S1415-47572010000400005 (statistics in SciELO)
URI http://repositorio.unifesp.br/handle/11600/5535

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