title: Serotonin transporter gene (5HTT) polymorphisms and temporal lobe epilepsy.
abstract: OBJECTIVE
  Preclinical and clinical studies have shown that serotonin levels might modulate susceptibility to seizures. Here we evaluated an association between 5HTTLPR and 5HTTVNTR allele variants in serotonin transporter gene and epileptogenesis in temporal lobe epilepsy (TLE).
  
  
  METHODS
  A case-control candidate gene study evaluating the frequencies of 5HTTLPR biallelic and 5HTTVNTR allele variants in patients and healthy subjects. Genotypes were grouped according to transcriptional efficiency. Cases were 175 patients with TLE selected from the Epilepsy Outpatient Clinic of Hospital de Clínicas de Porto Alegre, classified according to the electroclinical classification of the ILAE and neuroimaging findings. The control group consisted of 155 healthy unrelated subjects selected from the same population.
  
  
  RESULTS
  We observed that less efficient transcriptional genotypes for 5-HTT polymorphisms were more frequent in epileptic patients (O.R.=3.24; 95% C.I.=1.08-9.73; p=0.036). Our results suggest that less efficient transcriptional genotypes for serotonin transporter gene are associated with TLE.
  
  
  CONCLUSIONS
  In this study we observed an association between the presence of 5HTTLPR and 5-HTTVNTR less transcriptional efficient combined genotypes and TLE. Our results suggest that modulation of the serotoninergic system might be implied in epileptogenesis in TLE.
authors.affiliation: Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Ramiro Barcelos 2350, Porto Alegre, Brazil.
authors.forename: Laila Cigana
authors.initials: LC
authors.lastname: Schenkel
authors.forename: José Augusto
authors.initials: JA
authors.lastname: Bragatti
authors.forename: Carolina Machado
authors.initials: CM
authors.lastname: Torres
authors.forename: Kelin Cristine
authors.initials: KC
authors.lastname: Martin
authors.forename: Gisele
authors.initials: G
authors.lastname: Gus-Manfro
authors.forename: Sandra
authors.initials: S
authors.lastname: Leistner-Segal
authors.forename: Marino Muxfeldt
authors.initials: MM
authors.lastname: Bianchin
mesh_terms: D024506:5' Flanking Region / Q000235:genetics*; D000328:Adult; D000483:Alleles; D001938:Brazil / Q000453:epidemiology; D016022:Case-Control Studies; D004833:Epilepsy, Temporal Lobe / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D018598:Minisatellite Repeats / Q000235:genetics*; D016254:Mutagenesis, Insertional; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics* / Q000502:physiology; D014158:Transcription, Genetic; D055815:Young Adult
chemical_list: C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins