title: Role of apolipoprotein E in febrile convulsion.
abstract: Apolipoprotein E is consistently associated with the progression of some common human neurodegenerative diseases, e.g., epilepsy. We hypothesized that genetic variations in the apolipoprotein E gene have implications for susceptibility to, and prognoses in, febrile convulsion, which plays an apparent role in the development of epilepsy. We used the polymerase chain reaction and restriction enzyme digestion to characterize variations of the apolipoprotein E gene. Sixty-nine patients with febrile convulsion (simple/complex) and a corresponding cohort of healthy patients (n = 75) were used. There was no significant difference in genotypic distribution and allelic frequencies of the apolipoprotein E gene between the febrile convulsion and control groups. Comparing subpopulations of the febrile convulsion group (patients with simple and complex febrile convulsion), we noted that no patients with the epsilon3/epsilon4 genotype had complex febrile convulsions. The apolipoprotein E epsilon3/epsilon4 genotype was more frequently seen in the simple febrile than in the complicated febrile convulsion group (9 versus 0 patients, respectively). The data indicate an association with the epsilon3/epsilon4 genotype of the apolipoprotein E gene with a milder phenotype. Although apolipoprotein E4 is not a vulnerability factor regarding febrile convulsions, it seems effective in regard to prognoses.
authors.affiliation: Division of Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.
authors.forename: Ozlem
authors.initials: O
authors.lastname: Giray
authors.forename: Ayfer
authors.initials: A
authors.lastname: Ulgenalp
authors.forename: Elçin
authors.initials: E
authors.lastname: Bora
authors.forename: Nedret
authors.initials: N
authors.lastname: Uran
authors.forename: Ebru
authors.initials: E
authors.lastname: Yilmaz
authors.forename: Aycan
authors.initials: A
authors.lastname: Unalp
authors.forename: Derya
authors.initials: D
authors.lastname: Erçal
mesh_terms: D000483:Alleles; D053318:Apolipoprotein E3 / Q000235:genetics*; D053327:Apolipoprotein E4 / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D002648:Child; D004827:Epilepsy / Q000209:etiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012307:Risk Factors; D003294:Seizures, Febrile / Q000145:classification / Q000150:complications / Q000235:genetics*
chemical_list: D053318:Apolipoprotein E3; D053327:Apolipoprotein E4; D001057:Apolipoproteins E