Association analysis of a regulatory promoter polymorphism of the PAX-6 gene with idiopathic generalized epilepsy

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 d evelopment of the central nervous system. The present association study tes ted the hypothesis that length variation of a novel regulatory dinucleotide repeat polymorphism in the promoter region of the PAX-6 gene (PAX-6 gene-l inked polymorphic region, PAX-6LPR) confers susceptibility to the epileptog enesis of common subtypes of idiopathic generalized epilepsy (IGE). The rep eat length of the regulatory dinucleotide repeat polymorphism was assessed in 354 German control subjects and 125 German IGE patients, comprising 70 p atients with juvenile myoclonic epilepsy (JME) and 55 patients with an idio pathic absence epilepsy (IAE). The allelic distribution of the PAX-6LPR did not deviate significantly between the controls and the IGE patients (Wilco xon 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 su btypes of IGE. (C) 1999 Published by Elsevier Science B.V. All rights reser ved.