title: 5-HT1A receptor (HTR1A) 5' region haplotypes significantly affect protein expression in vitro.
abstract: The aim of this study was to explore the role of two SNPs (rs6295 & rs113195492) in the HTR1A gene promoter region that regulates the expression of the 5-HT1A receptor. A fragment spanning from -551 to +672 of HTR1A (Transcription start site +1) was cloned into the pGL-3 Basic Vector and three haplotype plasmids composed of two SNPs were constructed. HEK-293 cells and the SK-N-SH cells were transfected with the three plasmids, and the relative fluorescence intensity was measured. In HEK-293 cells, there was a significant difference when the relative fluorescence intensity of plasmid 1-1 was compared to that of plasmid 2-1. However, no significant difference was observed when the luciferase expression of plasmid 2-1 and plasmid 3-1 was analyzed. We also found that the expression trend of the SK-N-SH cells was similar to the HEK-293 cells, but the overall relative fluorescence intensity of the SK-N-SH cells was lower than that of the HEK-293 cells. Our finding showed that the rs6295 SNP, as a suspected variant that indicates susceptibility to schizophrenia, exhibited a higher transcriptional activity. The influence of the rs113195492 locus on schizophrenia needs to be explored further.
authors.affiliation: School of Forensic Medicine, China Medical University, Shenyang, 110122, China.
authors.forename: Xue
authors.initials: X
authors.lastname: Wu
authors.affiliation: School of Forensic Medicine, China Medical University, Shenyang, 110122, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Yao
authors.affiliation: School of Forensic Medicine, China Medical University, Shenyang, 110122, China.
authors.forename: Mei
authors.initials: M
authors.lastname: Ding
authors.affiliation: School of Forensic Medicine, China Medical University, Shenyang, 110122, China.
authors.forename: Zhang-Sen
authors.initials: ZS
authors.lastname: Shi
authors.affiliation: School of Forensic Medicine, China Medical University, Shenyang, 110122, China.
authors.forename: Feng-Ling
authors.initials: FL
authors.lastname: Xu
authors.affiliation: School of Forensic Medicine, China Medical University, Shenyang, 110122, China.
authors.forename: Jing-Jing
authors.initials: JJ
authors.lastname: Zhang
authors.affiliation: School of Forensic Medicine, China Medical University, Shenyang, 110122, China. Electronic address: wangbj77@163.com.
authors.forename: Bao-Jie
authors.initials: BJ
authors.lastname: Wang
mesh_terms: D002460:Cell Line; D006239:Haplotypes; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D044282:Receptor, Serotonin, 5-HT1A / Q000235:genetics* / Q000378:metabolism; D014158:Transcription, Genetic
chemical_list: D044282:Receptor, Serotonin, 5-HT1A
keywords: HTR1A; Polymorphism; Promoter; Schizophrenia; Transcription