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| Item Type: | Article |
|---|---|
| Title: | Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy |
| Creators Name: | Sander, T., Berlin, W., Gscheidel, N., Wendel, B., 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 |
| 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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