Objective. A recent study illustrated that a functional polymorphism in the prodynorphin (PDYN) gene promoter encoding the dynorphin opioid peptide is a significant risk factor for temporal lobe epilepsy (TLE). Here we wished to better address the role of the PDYN gene in the genetic predisposition to TLE. Methods. We tested the distribution of the PDYN genotypes (H/H, H/L,L/L) and alleles (H,L) in 143 patients (79 females and 64 males; mean age 0 49,2 ± 18.1 years) with non-lesional TLE and 259 age and sex-matched normal individuals. In all patients, the diagnosis of non-lesional TLE was based on comprehensive clinical, neuropsychological, electroencephalographic, and routine magnetic resonance evaluations. Fifty-two/143 (36.4%) patients had a family history of seizures or febrile convulsions in one or more first -to third-degree relatives. The mean age at seizure onset was 31.2 years with a range of 0.5 to 83 years.Results We found that PDYN promotor low-expression L-alleles confer, in a recessive manner; a slight increased risk for TLE in patients with a family history for seizures. Most important, association between PDYN polymorphism and TLE was highly significant in females but not formally significant in males.
Prodynorphin gene promoter polymorphism and temporal lobe epilepsy
Manna I;Cittadella R;Andreoli V;
2003
Abstract
Objective. A recent study illustrated that a functional polymorphism in the prodynorphin (PDYN) gene promoter encoding the dynorphin opioid peptide is a significant risk factor for temporal lobe epilepsy (TLE). Here we wished to better address the role of the PDYN gene in the genetic predisposition to TLE. Methods. We tested the distribution of the PDYN genotypes (H/H, H/L,L/L) and alleles (H,L) in 143 patients (79 females and 64 males; mean age 0 49,2 ± 18.1 years) with non-lesional TLE and 259 age and sex-matched normal individuals. In all patients, the diagnosis of non-lesional TLE was based on comprehensive clinical, neuropsychological, electroencephalographic, and routine magnetic resonance evaluations. Fifty-two/143 (36.4%) patients had a family history of seizures or febrile convulsions in one or more first -to third-degree relatives. The mean age at seizure onset was 31.2 years with a range of 0.5 to 83 years.Results We found that PDYN promotor low-expression L-alleles confer, in a recessive manner; a slight increased risk for TLE in patients with a family history for seizures. Most important, association between PDYN polymorphism and TLE was highly significant in females but not formally significant in males.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
