title: Association analysis between a Cys23Ser substitution polymorphism of the human 5-HT2c receptor gene and neuronal hyperexcitability.
abstract: Transgenic mice lacking a functional 5-HT2c receptor gene are extremely susceptible to audiogenic seizures, suggesting that 5-HT2c receptors mediate inhibition of neuronal network excitability. The present association study tested the hypothesis that a Cys23Ser substitution polymorphism within the human 5-HT2c receptor gene modulates neuronal excitability. Genotypes of the Cys23Ser polymorphism were assessed in 454 subjects of German descent, comprising: 1) 93 severely affected alcohol-dependent males with a history of alcohol withdrawal seizure or delirium, 2) 119 patients affected by an idiopathic generalized epilepsy, and 3) 242 controls. Both sexes were analyzed separately because of the X-chromosomal location of the 5-HT2c receptor gene. The allele frequencies of the Cys23Ser variants did not differ significantly between the controls and either the severely affected alcohol-dependent males (P = 0.34), or patients with idiopathic generalized epilepsy (P > 0.57). Our results suggest that the common Cys23Ser substitution polymorphism of the human 5-HT2c receptor gene does not confer susceptibility to neuronal hyperexcitability in either idiopathic generalized epilepsy or alcohol withdrawal seizure or delirium.
authors: Department of Psychiatry, University Hospital Benjamin Franklin, Free University of Berlin, Germany.
authors: J
authors: J
authors: Samochowiec
authors: M
authors: M
authors: Smolka
authors: G
authors: G
authors: Winterer
authors: H
authors: H
authors: Rommelspacher
authors: L G
authors: LG
authors: Schmidt
authors: T
authors: T
authors: Sander
mesh_terms: D000328:Adult; D000430:Alcohol Withdrawal Delirium / Q000235:genetics; D000437:Alcoholism / Q000235:genetics; D000483:Alleles; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009474:Neurons / Q000502:physiology*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011985:Receptors, Serotonin / Q000235:genetics*; D014960:X Chromosome
chemical_list: D011985:Receptors, Serotonin