title: ASIC1a polymorphism is associated with temporal lobe epilepsy.
abstract: Recent in vitro and in vivo data show that acid-sensing ion channel 1a (ASIC1a) activation enhances neuronal excitability in the hippocampus and neocortex, indicating that ASIC1a might play a role in the generation and maintenance of epileptic seizures. The aim of this study was to investigate association of the ASIC1a gene with temporal lobe epilepsy (TLE) for the first time. Six tag single-nucleotide polymorphisms (SNPs) of the ASIC1a gene were selected and genotyped using polymerase chain reaction-restriction fragment length polymorphism in 560 TLE patients and 401 healthy controls. There was a significant allelic and genotypic association between rs844347:A>C and TLE compared with controls. The rs844347-A allele frequency was 88.1% in the patients and 83.0% in control subjects (OR=1.516, 95% CI 1.142-2.013, p=0.004). Furthermore, the haplotype analysis revealed a significant association with TLE. The results of this study demonstrate for the first time an association between an ASC1a variant allele and TLE in a Han Chinese population.
authors.affiliation: Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, PR China.
authors.forename: Rui-Juan
authors.initials: RJ
authors.lastname: Lv
authors.forename: Jin-Sheng
authors.initials: JS
authors.lastname: He
authors.forename: Yuan-Hui
authors.initials: YH
authors.lastname: Fu
authors.forename: Ya-Qing
authors.initials: YQ
authors.lastname: Zhang
authors.forename: Xiao-Qiu
authors.initials: XQ
authors.lastname: Shao
authors.forename: Li-Wen
authors.initials: LW
authors.lastname: Wu
authors.forename: Qiang
authors.initials: Q
authors.lastname: Lu
authors.forename: Li-Ri
authors.initials: LR
authors.lastname: Jin
authors.forename: Hui
authors.initials: H
authors.lastname: Liu
mesh_terms: D062565:Acid Sensing Ion Channels; D000328:Adult; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012189:Retrospective Studies; D015222:Sodium Channels / Q000235:genetics*; D018709:Statistics, Nonparametric; D055815:Young Adult
chemical_list: C568266:ASIC1 protein, human; D062565:Acid Sensing Ion Channels; D009419:Nerve Tissue Proteins; D015222:Sodium Channels