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

• DOI: 10.1111/j.1468-1331.2011.03521.x
• Publication Date: 2011-09-28T01:44:01Z
• Authors: J. Li; H. Lin; X. Zhu; L. Li; X. Wang; W. Sun; X. Wu; A. Liu; F. Niu; Y. Wang; Y. Liu
• Keywords: Adult; Male; Serotonin Plasma Membrane Transport Proteins; China; Polymorphism, Genetic; Middle Aged; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Asian People; Epilepsy, Temporal Lobe; Gene Frequency; Humans; Female; Genetic Predisposition to Disease; Alleles; Genetic Association Studies

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 5‐HTT gene, which may influence gene expression or function, risk for TLE. Methods: Three hundred thirty‐four patients with TLE four eighty‐seven non‐epileptic control subjects Han Chinese origin were enrolled present study. Polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) method used genotyping. Results: 10‐repeat allele frequency 17 bp variable number tandem repeats second intron (5‐HTTVNTR) moderately higher than controls (9.1% vs. 6.1%, P = 0.0187, OR 1.55, 95%CI 1.07–2.26). Conclusion: Our study suggested 5‐HTTVNTR associated susceptibility.