title: No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy.
abstract: Quantitative trait loci studies in inbred mice have identified a locus on chromosome 1 (Szs1) of fundamental importance to seizure susceptibility. High-ranking candidate genes in this susceptibility region include KCNJ9, KCNJ10 and ATP1A2. We performed a systematic mutation scan of the coding region of the human ATP1A2 gene and performed a case-control association study with seven common markers. Genotypes were assessed in 152 idiopathic generalized epilepsy (IGE) patients of German ancestry and 111 healthy German controls for all seven polymorphisms. No significant differences were found in genotype or allele frequencies for any of the variations between the IGE patients and controls. No haplotypes were associated with IGE when compared to controls. Linkage disequilibrium was demonstrated throughout the gene. Results suggest that the polymorphisms we studied in the ATP1A2 gene do not represent major susceptibility factors for common forms of IGE.
authors.affiliation: Department of Psychiatry, University of Pennsylvania School of Medicine, Center for Neurobiology and Behavior, 3535 Market Street, 2nd Floor, R2070, Philadelphia, PA 19104, USA. lohoff@mail.med.upenn.edu
authors.forename: Falk W
authors.initials: FW
authors.lastname: Lohoff
authors.forename: Thomas N
authors.initials: TN
authors.lastname: Ferraro
authors.forename: Thomas
authors.initials: T
authors.lastname: Sander
authors.forename: Hongyu
authors.initials: H
authors.lastname: Zhao
authors.forename: John P
authors.initials: JP
authors.lastname: Dahl
authors.forename: Wade H
authors.initials: WH
authors.lastname: Berrettini
authors.forename: Russell J
authors.initials: RJ
authors.lastname: Buono
mesh_terms: D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004829:Epilepsy, Generalized / Q000453:epidemiology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D005858:Germany / Q000453:epidemiology; D006239:Haplotypes; D006801:Humans; D007438:Introns / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
chemical_list: D004247:DNA; C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase