Association of mu-opioid receptor subunit gene and idiopathic generalized epilepsy.
Neurology
; 59(5): 724-8, 2002 Sep 10.
Article
em En
| MEDLINE
| ID: mdl-12221164
ABSTRACT
OBJECTIVE:
To replicate and extend the previously reported association between the opioid receptor mu subunit gene (OPRM1) and idiopathic absence epilepsy (IAE), using a sample of 230 probands with idiopathic generalized epilepsy (IGE).BACKGROUND:
In humans and in animal models, several lines of evidence implicate opioid receptors with seizures. The G118 allele of OPRM1 was associated with IAE (p = 0.019).METHODS:
Three single nucleotide polymorphisms (SNP) of OPRM1 were investigated by association studies with IGE using a case/control design, one of which also used a within-family design.RESULTS:
Association was found for G118 with IGE (p = 0.00027, odds ratio [OR] = 1.86), replicating the previous association. Within-family tests of linkage and association (haplotype-based haplotype relative risk and transmission disequilibrium test) confirmed this result. Further evidence for involvement of OPRM1 in IGE was provided by an association with G-172T, located in the 5' untranslated region (p = 0.0015, OR = 2.36). Haplotypes of the two SNPs were associated with IGE with a greater level of significance (p = 0.000087) suggesting that both SNPs might be in linkage disequilibrium with a single functional variant. Analysis of the results by subgroups of IGE showed association with all subgroups tested.CONCLUSIONS:
These results confirm the previous association and support the hypothesis of a role for OPRM1 in IGE, including absence syndromes. However, the authors found no evidence for a specific association between OPRM1 and idiopathic absence epilepsy. The data suggest that the functional variant predisposing to IGE is located within 60kb of exon 1.
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Base de dados:
MEDLINE
Assunto principal:
Epilepsia Generalizada
/
Receptores Opioides mu
/
Polimorfismo de Nucleotídeo Único
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article