title: Association between ABCB1-T1236C polymorphism and drug-resistant epilepsy in Iranian female patients.
abstract: One third of epileptic patients are resistant to several anti-epileptic drugs (AED). P-glycoprotein (P-gp) is an efflux transporter encoded by ATP-binding cassette subfamily B member 1 (ABCB1) gene that excludes drugs from the cells and plays a significant role in AEDs resistance. Over-expression of P-gp could be a result of polymorphisms in ABCB1 gene. We studied the association of T129C and T1236C single-nucleotide polymorphisms (SNP) of ABCB1 gene with drug-resistant epilepsy in Iranian epileptics.
  
  
  
  DNA samples were obtained from 200 healthy controls and 332 epileptic patients, of whom 200 were drug responsive and 132 drug resistant. The frequencies of the genotypes of the two SNP were determined by polymerase chain reaction followed by restriction fragment length polymorphism.
  
  
  
  No significant association was found between T129C and T1236C genotypes and drug-resistant epilepsy neither in adults nor in children. However, the risk of drug resistance was higher in female patients with 1236CC (P = 0.02) or CT (P = 0.008) genotype than in those with TT genotype. The risk of drug resistance was also higher in patients with symptomatic epilepsies with 1236CC (P = 0.02) or CT (P = 0.004) genotype than in those with TT genotype. The risk of drug resistance was lower in patients with idiopathic epilepsies with 129TT genotype (P = 0.001) than in those with CT genotype.
  
  
  
  Our results indicate that T1236C polymorphism is associated with drug resistance in Iranian female epileptic patients. Replication studies with large sample sizes are needed to confirm our results.
authors.affiliation: Dept. of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.|Dept. of Genetics, Faculty of Basic Sciences, Tarbiat Modares University, TehranIran, Iran.
authors.forename: Mehri
authors.initials: M
authors.lastname: Maleki
authors.affiliation: Dept. of Physiology and Pharmacology, Pasteur Institute of Iran, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Sayyah
authors.affiliation: Dept. of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.|Dept. of Cell and Molecular Biology, Khatam University, Tehran, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Kamgarpour
authors.affiliation: Dept. of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
authors.forename: Morteza
authors.initials: M
authors.lastname: Karimipoor
authors.affiliation: Dept. of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
authors.forename: Aida
authors.initials: A
authors.lastname: Arab
authors.affiliation: Dept. of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
authors.forename: Anahita
authors.initials: A
authors.lastname: Rajabi
authors.affiliation: Dept. of Neurology, Loghman Hospital, Shahid Beheshti University of Medical Sciences, Tehran, iran.
authors.forename: Kourosh
authors.initials: K
authors.lastname: Gharagozli
authors.affiliation: Dept. of Epidemiology and Biostatistics, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Ahmad Reza
authors.initials: AR
authors.lastname: Shamshiri
authors.affiliation: Dept. of Genomic Psychiatry, Roozbeh Hospital, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Esmaeil
authors.initials: E
authors.lastname: Shahsavand Ananloo
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D016022:Case-Control Studies; D003710:Demography; D004351:Drug Resistance / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007492:Iran; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1