J Li1, H Lin, X Zhu, L Li, X Wang, W Sun, X Wu, A Liu, F Niu, Y Wang, Y Liu. 1. 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.
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.
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.
Authors: Dubravka Svob Strac; Nela Pivac; Ilse J Smolders; Wieslawa A Fogel; Philippe De Deurwaerdere; Giuseppe Di Giovanni Journal: Front Neurosci Date: 2016-11-10 Impact factor: 4.677