Mutation analysis of synapsin III gene in schizophrenia.
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.
Tsai
Ming-Ta
MT
Department of Psychiatry, Tzu Chi General Hospital and Tzu Chi University Medical School, Hualien City, Taiwan.
Hung
Chao-Chun
CC
Tsai
Chan-Yen
CY
Liu
Mei-Ying
MY
Su
Yi-Chieh
YC
Chen
Yun-Hsiang
YH
Hsiao
Kwang-Jen
KJ
Chen
Chia-Hsiang
CH
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
D009479:Neuropeptides; D010750:Phosphoproteins; C111812:SYN3 protein, human; D016704:Synapsins