title: Mutation analysis of synapsin III gene in schizophrenia.
abstract: Synapsin III is a new synapsin family gene with the putative function of synaptogenesis regulation and neurotransmitter release in the brain. The gene was mapped to 22q12-q13, a schizophrenia susceptible region gene as suggested by several linkage studies. Hence, the synapsin III gene is considered a candidate gene of schizophrenia. We systematically sequenced the protein coding and 5'-promoter regions of the synapsin III gene to look for mutations in 62 Han Chinese schizophrenic patients from Taiwan with positive family history. Further case-control association study was performed among 163 patients and 151 controls using the genetic polymorphic markers identified from these 62 patients. Three single nucleotide polymorphisms (SNPs) were identified: g.-631C > G and g.-196G>A at 5'-promoter region, and g.69G>A at exon 1. Besides, no other mutations were identified in these patients. The g.69G>A polymorphism does not alter the amino acid threonine at codon 23 (ACG>ACA). Further case-control association studies also did not find significant differences of genotype or allele frequency distributions of these three polymorphisms between 163 patients and 151 non-psychotic comparison individuals. Hence, our data are not in favor of a large effect of synapsin III gene in the pathogenesis of schizophrenia.
authors.affiliation: Department of Psychiatry, Tzu Chi General Hospital and Tzu Chi University Medical School, Hualien City, Taiwan.
authors.forename: Ming-Ta
authors.initials: MT
authors.lastname: Tsai
authors.forename: Chao-Chun
authors.initials: CC
authors.lastname: Hung
authors.forename: Chan-Yen
authors.initials: CY
authors.lastname: Tsai
authors.forename: Mei-Ying
authors.initials: MY
authors.lastname: Liu
authors.forename: Yi-Chieh
authors.initials: YC
authors.lastname: Su
authors.forename: Yun-Hsiang
authors.initials: YH
authors.lastname: Chen
authors.forename: Kwang-Jen
authors.initials: KJ
authors.lastname: Hsiao
authors.forename: Chia-Hsiang
authors.initials: CH
authors.lastname: Chen
mesh_terms: D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009479:Neuropeptides / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000235:genetics*; D016704:Synapsins; D013624:Taiwan
chemical_list: D009479:Neuropeptides; D010750:Phosphoproteins; C111812:SYN3 protein, human; D016704:Synapsins