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Title: Clock polymorphisms and circadian rhythms phenotypes in a sample of the Brazilian population
Authors: Pedrazzoli, Mario [UNIFESP]
Louzada, Fernando Mazzili
Pereira, Danyella Silva [UNIFESP]
Benedito-Silva, Ana Amelia [UNIFESP]
Lopez, Alberto Remesar [UNIFESP]
Martynhak, Bruno Jacson
Korczak, Anna Ligia
Koike, Bruna Del Vechio [UNIFESP]
Barbosa, Ana Alves [UNIFESP]
D'Almeida, Vania [UNIFESP]
Tufik, Sergio [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
Univ Fed Parana
Keywords: Clock
Horne-Ostberg morningness-eveningness score
circadian chronotype
genetics of circadian rhythms
delayed sleep phase syndrome
Issue Date: 1-Jan-2007
Publisher: Taylor & Francis Inc
Citation: Chronobiology International. Philadelphia: Taylor & Francis Inc, v. 24, n. 1, p. 1-8, 2007.
Abstract: A Clock polymorphism T to C situated in the 3' untranslated region (3'-UTR) has been associated with human diurnal preference. At first, Clock 3111C had been reported as a marker for evening preference. However these data are controversial, and data both corroborating and denying them have been reported. This study hypothesizes that differences in Clock genotypes could be observed if extreme morning-type subjects were compared with extreme evening-type subjects, and the T3111C and T257G polymorphisms were studied. the possible relationship between both polymorphisms and delayed sleep phase syndrome (DSPS) was also investigated. An interesting and almost complete linkage disequilibrium between the polymorphisms T257G in the 5' UTR region and the T3111C in the 3' UTR region of the Clock gene is described. Almost always, a G in position 257 corresponds to a C in position 3111, and a T in position 257 corresponds to a T in position 3111. the possibility of an interacfion of these two regions in the Clock messenger RNA structure that could affect gene expression was analyzed using computer software. the analyses did not reveal an interaction between those two regions, and it is unlikely that this full allele correspondence affects Clock gene expression. These results show that there is no association between either polymorphism T3111C or T257G in the Clock gene with diurnal preference or delayed sleep phase syndrome (DSPS). These controversial data could result from the possible effects of latitude and clock genes interaction on circadian phenotypes.
ISSN: 0742-0528
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