PER2 rs2304672, CLOCK rs1801260, and PER3 rs57875989 polymorphisms are not associated with juvenile myoclonic epilepsy
| Autor: | Thalita Ewellyn Batista Sales Marques, Lívia Leite Góes Gitaí, Bruna Priscila dos Santos, Maísa Vieira da Silva Malta, Fernando Tenório Gameleira, Daniel Leite Góes Gitaí, Rodrigo Secolin, Tiago Gomes de Andrade |
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| Rok vydání: | 2014 |
| Předmět: |
Male
medicine.medical_specialty Genotype Clinical Neurology SNP CLOCK Proteins Biology Polymorphism Single Nucleotide Behavioral Neuroscience Epilepsy Internal medicine medicine Genetic predisposition Humans Allele Clock genes Genetics Sleep disorder Multifactor dimensionality reduction Idiopathic epilepsy Myoclonic Epilepsy Juvenile Chronotype Electroencephalography Period Circadian Proteins medicine.disease Endocrinology Neurology RFLP Female Neurology (clinical) Juvenile myoclonic epilepsy Restriction fragment length polymorphism Sleep Brazil |
| Zdroj: | Epilepsybehavior : EB. 36 |
| ISSN: | 1525-5069 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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