title: Association study of functional polymorphisms in serotonin transporter gene with temporal lobe epilepsy in Han Chinese population.
abstract: OBJECTIVE
  Serotoninergic dysfunction was reported to be involved in aetiology of temporal lobe epilepsy (TLE). Serotonin (5-HT) is actively cleared from synaptic cleft by serotonin transporter (5-HTT). We investigated the association between three common polymorphisms of 5-HTT gene, which may influence gene expression or function, and risk for TLE.
  
  
  METHODS
  Three hundred and thirty-four patients with TLE and four hundred and eighty-seven non-epileptic control subjects from Han Chinese origin were enrolled for the present study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping.
  
  
  RESULTS
  10-repeat allele frequency of 17 bp variable number of tandem repeats in the second intron (5-HTTVNTR) was moderately higher in patients with TLE than in controls (9.1% vs. 6.1%, P=0.0187, OR=1.55, 95%CI=1.07-2.26).
  
  
  CONCLUSIONS
  Our study suggested 10-repeat allele of 5-HTTVNTR may be associated with TLE susceptibility.
authors.affiliation: National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing, China.
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.forename: H
authors.initials: H
authors.lastname: Lin
authors.forename: X
authors.initials: X
authors.lastname: Zhu
authors.forename: L
authors.initials: L
authors.lastname: Li
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: W
authors.initials: W
authors.lastname: Sun
authors.forename: X
authors.initials: X
authors.lastname: Wu
authors.forename: A
authors.initials: A
authors.lastname: Liu
authors.forename: F
authors.initials: F
authors.lastname: Niu
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: Y
authors.initials: Y
authors.lastname: Liu
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002681:China / Q000208:ethnology; D004833:Epilepsy, Temporal Lobe / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*
chemical_list: D050486:Serotonin Plasma Membrane Transport Proteins