title: Polymorphism of the multidrug resistance 1 gene MDR1/ABCB1 C3435T and response to antiepileptic drug treatment in temporal lobe epilepsy.
abstract: OBJECTIVE
  A synonymous C to T variant at position 3435 (c.3435C>T) is one common polymorphism of the multidrug resistant 1 (MDR1) gene, which encodes the major transmembrane efflux transporter P-glycoprotein. It has been suggested that this polymorphism, and more specifically the 3435CC genotype, may be associated with the response to antiepileptic drug treatment. Here we wished to examine the role of such a candidate variant in a cohort of 175 patients (98 women and 76 men; mean ± SD age: 47.90 ± 17.64) with temporal lobe epilepsy (TLE).
  
  
  METHODS
  Patients were classified according to whether they had drug-responsive (n=134) or drug-resistant (n=41) epilepsy. We also enrolled 175 healthy controls (93 women and 82 men; mean ± SD age: 72.5 ± 6.8), matched for sex and ethnicity.
  
  
  RESULTS
  Patients and controls were genotyped for detection of the 3435C>T polymorphism, but the analysis showed no significant association between the CC genotype and the risk of drug-resistant epilepsy.
  
  
  CONCLUSIONS
  These findings rule out the MDR1 c.3435C>T polymorphism having a major role or increasing the risk of drug-resistance suggesting a revision is required to determine the contribution of this polymorphism in predicting drug response in epilepsy.
authors.affiliation: Institute of Molecular Bioimaging and Physiology (IBFM), Section of Germaneto, National Research Council, Catanzaro, Italy.
authors.forename: Ida
authors.initials: I
authors.lastname: Manna
authors.affiliation: Institute of Neurology, University "Magna Graecia", Germaneto, Catanzaro, Italy. Electronic address: a.gambardella@unicz.it.
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.affiliation: Institute of Neurology, University "Magna Graecia", Germaneto, Catanzaro, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Labate
authors.affiliation: Institute of Neurology, University "Magna Graecia", Germaneto, Catanzaro, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Mumoli
authors.affiliation: Regional Epilepsy Centre, Hospital of Reggio Calabria, Reggio Calabria, Italy.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Ferlazzo
authors.affiliation: Institute of Neurology, University "Magna Graecia", Germaneto, Catanzaro, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Pucci
authors.affiliation: Institute of Neurology, University "Magna Graecia", Germaneto, Catanzaro, Italy; Regional Epilepsy Centre, Hospital of Reggio Calabria, Reggio Calabria, Italy.
authors.forename: Umberto
authors.initials: U
authors.lastname: Aguglia
authors.affiliation: Institute of Molecular Bioimaging and Physiology (IBFM), Section of Germaneto, National Research Council, Catanzaro, Italy; Institute of Neurology, University "Magna Graecia", Germaneto, Catanzaro, Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D000328:Adult; D000368:Aged; D000927:Anticonvulsants / Q000627:therapeutic use*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004252:DNA Mutational Analysis; D004833:Epilepsy, Temporal Lobe / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D000927:Anticonvulsants
keywords: Antiepileptic drugs; Association studies; MDR1; Pharmacogenetics; Single nucleotide polymorphism; Temporal lobe epilepsy