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Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy

Item Type:Article
Title:Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy
Creators Name:Sander, T. and Berlin, W. and Gscheidel, N. and Wendel, B. and Janz, D. and Hoehe, M.R.
Abstract:Pharmacological and autoradiological studies suggest that {mu}-opioid receptor (OPRM) mediated neurotransmission is involved in the generation of absence seizures. Mutation screening of the human OPRM gene identified a common amino acid substitution polymorphism (Asn40Asp) that differentially modulates the binding affinity of {beta}-endorphin and signal transduction of the receptor. The present association study tested the candidate gene hypothesis that the Asn40Asp substitution polymorphism in the N-terminal OPRM domain confers genetic susceptibility to idiopathic absence epilepsy (IAE). The genotypes of the Asn40Asp polymorphism were assessed by allele-specific polymerase chain reaction in 72 German IAE patients and in 340 ethnically matched control subjects. The frequency of the Asp40 allele was significantly increased in the IAE patients [f(Asp40)=0.139] compared to the controls [f(Asp40)=0.078; χ2=5.467, df=1, P=0.019; OR=2.03; 95%-CI: 1.12-3.68]. This allelic association suggests that the functional Asp40 variant of OPRM modulates neuronal excitability underlying the epileptogenesis of IAE.
Keywords:Absence Epilepsy, Association, Genetics, {Mu}-Opioid Receptor, OPRM
Source:Epilepsy Research
ISSN:0920-1211
Publisher:Elsevier (The Netherlands)
Volume:39
Number:1
Page Range:57-61
Date:1 March 2000
Official Publication:https://doi.org/10.1016/S0920-1211(99)00109-6
PubMed:View item in PubMed

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