title: PER2 rs2304672, CLOCK rs1801260, and PER3 rs57875989 polymorphisms are not associated with juvenile myoclonic epilepsy.
abstract: Sleep disturbance is common in several epilepsy types, such as juvenile myoclonic epilepsy (JME). Genetic background could increase susceptibility to seizure and sleep abnormalities. From this perspective, a susceptibility gene for sleep disturbance or chronotype could contribute to the genetic susceptibility threshold for epilepsy and vice versa. Accordingly, we investigated whether functional clock gene polymorphisms (PER2 111C>G, CLOCK 3111T>C, and PER3 VNTR) might influence the risk for JME. All these polymorphisms have recently been reported to be associated with sleep disturbance, diurnal variation, and neurological diseases. The polymorphisms were genotyped in 97 patients and 212 controls using polymerase chain reaction or restriction fragment length polymorphism methods. No significant differences were observed in the genotypic and allelic frequencies of these polymorphisms between cases and controls even when analyses were restricted to patients that presented a diurnal preferential seizure occurrence. We also tested for interactions between polymorphisms by multifactor dimensionality reduction analysis. None of the combined genotypes differed significantly between the groups. These results present no evidence for an association of these polymorphisms with JME. Further studies including other types of epilepsy and/or other functional polymorphisms are required to investigate the possible relationship between clock genes and the genetic susceptibility to chronic seizure.
authors.affiliation: Institute of Biological Sciences and Health, Federal University of Alagoas, AL, Brazil. Electronic address: brunasantos4777@gmail.com.
authors.forename: Bruna
authors.initials: B
authors.lastname: Santos
authors.affiliation: Institute of Biological Sciences and Health, Federal University of Alagoas, AL, Brazil. Electronic address: thalitasalles@gmail.com.
authors.forename: Thalita
authors.initials: T
authors.lastname: Marques
authors.affiliation: Institute of Biological Sciences and Health, Federal University of Alagoas, AL, Brazil. Electronic address: maisa_malta@hotmail.com.
authors.forename: Maísa
authors.initials: M
authors.lastname: Malta
authors.affiliation: School of Medicine, Federal University of Alagoas, AL, Brazil. Electronic address: fernandotg@uol.com.br.
authors.forename: Fernando
authors.initials: F
authors.lastname: Gameleira
authors.affiliation: Department of Medical Genetics, University of Campinas, SP, Brazil. Electronic address: rsecolin@gmail.com.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Secolin
authors.affiliation: Campus Arapiraca, Federal University of Alagoas, AL, Brazil. Electronic address: deandrade.tiago@gmail.com.
authors.forename: Tiago
authors.initials: T
authors.lastname: Andrade
authors.affiliation: School of Medicine, Federal University of Alagoas, AL, Brazil. Electronic address: liviagitai@globo.com.
authors.forename: Lívia
authors.initials: L
authors.lastname: Gitaí
authors.affiliation: Department of Cell, Molecular Biology and Genetics, Institute of Biological Sciences and Health, Federal University of Alagoas, AL, Brazil. Electronic address: danielgitai@gmail.com.br.
authors.forename: Daniel
authors.initials: D
authors.lastname: Gitaí
mesh_terms: D001938:Brazil; D056926:CLOCK Proteins / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics*; D056950:Period Circadian Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C421902:PER2 protein, human; C512644:PER3 protein, human; D056950:Period Circadian Proteins; D056926:CLOCK Proteins; C538943:CLOCK protein, human
keywords: Clock genes; Idiopathic epilepsy; RFLP; SNP; Sleep