title: Association analysis between a regulatory-promoter polymorphism of the human monoamine oxidase A gene and idiopathic generalized epilepsy.
abstract: Monoaminergic neurotransmission plays an important role in the regulation of neuronal network excitability and seizure activity. Therapeutic inhibition of the mitochondrial enzyme monoamine oxidase A (MAO-A), which is involved in the degradation and inactivation of monoaminergic neurotransmitters, has been shown to confer a potent anticonvulsant effect. These and other findings suggest a possible role of the X-linked MAO-A gene in epileptogenesis. Therefore, our study was designed to test for an association between a novel MAO-A gene promoter polymorphism and common subtypes of idiopathic generalized epilepsy (IGE). The length of a 30-bp repetitive sequence approximately 1.2 kb upstream of the ATG initiation codon was assessed in 126 patients with juvenile myoclonic epilepsy (JME), 122 patients with idiopathic absence epilepsy (IAE), and 248 healthy controls of German descent. Both sexes were analyzed separately. Although we observed a trend towards a lower number of heterozygotes carrying the 3 and 4 copy alleles in female IAE patients (chi2 = 3.813, df = 1, P = 0.053), allele frequencies did not deviate significantly between patients and controls. Thus, our results do not provide evidence for a contribution of the functional MAO-A gene promoter polymorphism to the pathogenesis of common IGE subtypes.
authors.affiliation: University Department of Human Genetics, Bonn, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Haug
authors.forename: T
authors.initials: T
authors.lastname: Sander
authors.forename: K
authors.initials: K
authors.lastname: Hallmann
authors.forename: M J
authors.initials: MJ
authors.lastname: Lentze
authors.forename: P
authors.initials: P
authors.lastname: Propping
authors.forename: C E
authors.initials: CE
authors.lastname: Elger
authors.forename: A
authors.initials: A
authors.lastname: Heils
mesh_terms: D000328:Adult; D000483:Alleles; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D004832:Epilepsy, Absence / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D005787:Gene Frequency; D005809:Genes, Regulator / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008995:Monoamine Oxidase / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012016:Reference Values; D012727:Sex Characteristics
chemical_list: D008995:Monoamine Oxidase