title: Clock T3111C and Per2 C111G SNPs do not influence circadian rhythmicity in healthy Italian population.
abstract: A possible relationship between human circadian rhythmicity and polymorphisms in clock genes have been documented. However, these data are controversial, and studies both corroborating and denying them have been reported. T3111C Clock polymorphism had been associated with the human evening preference, however, this association has not been confirmed. Moreover, C111G Per2 polymorphism has been associated with the "morning larks" chronotype in one study, not yet replicated. We have, therefore, performed this study to evaluate whether Per2 C111G and Clock T3111C polymorphisms might influence sleep circadian rhythmicity in a sample of 219 Italian volunteers. A possible interaction between these polymorphisms was also investigated. No differences in Per2 C111G and Clock T3111C allele and genotype frequencies were found, and none of the combined Clock T3111C-Per2 C11G genotypes resulted more frequent in one group compared to the others. Present results do not support a role of these polymorphisms in the circadian phenotypes.
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126, Pisa, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Choub
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Fabio
authors.initials: F
authors.lastname: Coppedè
authors.forename: Annalisa
authors.initials: A
authors.lastname: LoGerfo
authors.forename: Daniele
authors.initials: D
authors.lastname: Orsucci
authors.forename: Lucia
authors.initials: L
authors.lastname: Petrozzi
authors.forename: Elisa
authors.initials: E
authors.lastname: DiCoscio
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Maestri
authors.forename: Anna
authors.initials: A
authors.lastname: Rocchi
authors.forename: Enrica
authors.initials: E
authors.lastname: Bonanni
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.forename: Luigi
authors.initials: L
authors.lastname: Murri
mesh_terms: D000328:Adult; D056926:CLOCK Proteins / Q000235:genetics*; D016009:Chi-Square Distribution; D002940:Circadian Rhythm / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D056950:Period Circadian Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult
chemical_list: C421902:PER2 protein, human; D056950:Period Circadian Proteins; D056926:CLOCK Proteins