title: Association analysis of a regulatory promoter polymorphism of the PAX-6 gene with idiopathic generalized epilepsy.
abstract: The PAX-6 gene is a member of the paired-box-containing (PAX) gene family, encoding a transcriptional activator, that plays an important role in the development of the central nervous system. The present association study tested the hypothesis that length variation of a novel regulatory dinucleotide repeat polymorphism in the promoter region of the PAX-6 gene (PAX-6 gene-linked polymorphic region, PAX-6LPR) confers susceptibility to the epileptogenesis of common subtypes of idiopathic generalized epilepsy (IGE). The repeat length of the regulatory dinucleotide repeat polymorphism was assessed in 354 German control subjects and 125 German IGE patients, comprising 70 patients with juvenile myoclonic epilepsy (JME) and 55 patients with an idiopathic absence epilepsy (IAE). The allelic distribution of the PAX-6LPR did not deviate significantly between the controls and the IGE patients (Wilcoxon Rank-Sum test: P > 0.76), or both subgroups of either JME patients (P > 0.78) or IAE patients (P > 0.87). Our results do not provide evidence that length variation of the polymorphic dinucleotide sequence in the PAX-6LPR contributes a frequent and relevant effect to the pathogenesis of common subtypes of IGE.
authors.affiliation: Department of Neurology, University Hospital Charité, Humboldt University Berlin, Germany. sanderth@aol.com
authors.forename: T
authors.initials: T
authors.lastname: Sander
authors.forename: Y
authors.initials: Y
authors.lastname: Syagailo
authors.forename: J
authors.initials: J
authors.lastname: Samochowiec
authors.forename: O
authors.initials: O
authors.lastname: Okladnova
authors.forename: K P
authors.initials: KP
authors.lastname: Lesch
authors.forename: D
authors.initials: D
authors.lastname: Janz
mesh_terms: D000483:Alleles; D004268:DNA-Binding Proteins / Q000235:genetics*; D018900:Dinucleotide Repeats; D004831:Epilepsies, Myoclonic / Q000235:genetics; D004832:Epilepsy, Absence / Q000235:genetics; D004829:Epilepsy, Generalized / Q000235:genetics*; D005136:Eye Proteins; D005787:Gene Frequency; D005809:Genes, Regulator / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins; D006801:Humans; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012016:Reference Values; D012097:Repressor Proteins
chemical_list: D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins