Association of MDR1 gene C3435T polymorphism with childhood intractable epilepsy: a meta-analysis

• Published in: Journal of Neural Transmission 2014-07, Vol.121 (7), p.717-724
• Main Authors: Sun, Guilian, Sun, Xue, Guan, Limei
• Format: Article
• Language: English
• Subjects: ATP Binding Cassette Transporter, Sub-Family B - genetics; Child; Child, Preschool; Electronic Health Records - statistics & numerical data; Epilepsy - genetics; Female; Genetic Predisposition to Disease - genetics; Humans; Male; Medicine; Medicine & Public Health; Neurology; Neurosciences; Polymorphism, Single Nucleotide - genetics; Psychiatry; Sensitivity and Specificity; Systematic review; Translational Neurosciences - Original Article
• ISSN: 0300-9564; 1435-1463
• DOI: 10.1007/s00702-014-1169-3

Drug-resistant epilepsy is also referred to as intractable, medically refractory, or pharmacoresistant epilepsy. Approximately, one-third of patients with epilepsy have recurrent seizures despite therapy. Multidrug resistance 1 ( MDR1 ) gene may play a role in drug-resistance in epilepsy. To assess the association between MDR1 C3435T polymorphism and the response to anticonvulsants in childhood intractable epilepsy, we conducted a systematic review and meta-analysis. Studies were obtained from the electronic database of PubMed, Medline, Embase and CNKI up to September 2013. All the case–control association researches evaluating the role of MDR1 C3435T polymorphism in childhood epilepsy to antiepileptic drugs were identified. The odds ratios (ORs) with 95 % confidence intervals (CIs) were calculated for comparisons of the alleles and genotypes with co-dominant (C/C vs. T/T, C/T vs. T/T), dominant (C/C + C/T vs. T/T), and recessive (C/C vs. C/T + T/T) models in overall and in ethnicity subgroups to measure the strength of genetic association. A total of 8 related studies, including 634 drug-resistant patients, 615 drug-responsive patients and 1,052 healthy controls were pooled in this meta-analysis. The allelic association of MDR1 C3435T with risk of drug-resistance was not significant (OR 1.03, 95 % CI 0.87–1.22, P  = 0.73; OR 1.00, 95 % CI 0.86–1.16, P  = 0.98) in overall and in the subgroup analysis by ethnicity (Asian: OR 0.95, 95 % CI 0.77–1.18, P  = 0.67; Caucasian: OR 1.18, 95 % CI 0.89–1.57, P  = 0.25). Neither association was found in other genetic models. Our results did not show a significant association between MDR1 C3435T polymorphism and response to anticonvulsant drugs, suggesting that this polymorphism may not be a risk factor to childhood intractable epilepsy.