Association study of functional polymorphisms in serotonin transporter gene with temporal lobe epilepsy in Han Chinese population

Eur J Neurol. 2012 Feb;19(2):351-3. doi: 10.1111/j.1468-1331.2011.03521.x. Epub 2011 Sep 27.

Abstract

Background and purpose: 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).

Conclusion: Our study suggested 10-repeat allele of 5-HTTVNTR may be associated with TLE susceptibility.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Asian People / genetics*
  • China / ethnology
  • Epilepsy, Temporal Lobe / ethnology
  • Epilepsy, Temporal Lobe / genetics*
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Serotonin Plasma Membrane Transport Proteins / genetics*

Substances

  • Serotonin Plasma Membrane Transport Proteins