Multidrug resistance 1 (MDR1) 3435C/T genotyping in childhood drug-resistant epilepsy

• Published in: Brain & development (Tokyo. 1979) Vol. 36; no. 2; pp. 137 - 142
• Main Authors: Saygi, Semra, Alehan, Fusun, Atac, Fatma Belgin, Erol, Ilknur, Verdi, Hasibe, Erdem, Remzi
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01-02-2014
• Subjects: Adolescent; Antiepileptic drug treatment; ATP-Binding Cassette, Sub-Family B, Member 1 - genetics; Child; Child, Preschool; Drug Resistance - genetics; Epilepsy - genetics; Female; Gene Frequency - genetics; Genetic Predisposition to Disease; Genotype; Humans; Intractable epilepsy; Male; MDR1 polymorphism; Neurology; Polymorphism, Single Nucleotide - genetics; Intractable epilepsy; MDR1 polymorphism; Antiepileptic drug treatment
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/j.braindev.2013.01.016

Abstract Introduction A mutation at nucleotide position 3435 in exon 26 of the multidrug resistance 1 (MDR1) gene is the most frequently studied polymorphism in relation to multidrug resistance. However, there are conflicting data as to whether the CC or TT genotype of the 3435C>T polymorphism is associated with drug resistance. Methods and results: We investigated the association between this polymorphism in drug-resistant childhood epilepsy by comparison with drug-responsive patients. In total, 59 patients with drug-resistant epilepsy, defined as having four or more seizures within a 12-month period while using three or more AEDs, 60 children with drug-responsive epilepsy who had remained seizure-free for 12 months on their current AED regimen and 76 healthy children were involved in this study. Genotype frequencies in drug-resistant patients were as follows: 32.2% CC, 44.1% CT, 23.7% TT; in the drug-responsive group: 20.0% CC, 50.0% CT, 30.0% TT; in the control group: 24.3% CC, 50.0% CT, 25.7% TT. Comparison of drug-resistant and drug-responsive patients revealed no significant difference in genotype frequency. The findings of the epilepsy patients were not significantly different from those of the healthy control subjects. Conclusions: Our study does not support any significant association between the MDR1 polymorphism and drug-resistant childhood epilepsy.