1 Neuroreport 2011 Apr 22: 288-93
PMID 21407139
Title Positive association of the human STON2 gene with schizophrenia.
Abstract Synaptic hypothesis ofschizophreniasuggests that alterations of synaptic transmission and neuronal connectivity might be core feature ofschizophrenia.STON2participates in synaptic vesicle protein recognition and neural endocytosis. To explore the association ofSTON2withschizophrenia, 11 single nucleotide polymorphisms (SNPs) were examined in 768 Chinese Hanschizophreniacases and 1347 Chinese Han controls. The results showed that three SNPs had strong association withschizophrenia, two exonic SNPs (rs2241621: allelic P=0.0005; rs3813535: allelic P=0.0078) and one intronic SNP (rs9323698: allelic P=0.0019). When haplotype analysis performed, two linkage disequilibrium blocks showed significant differences in frequency between cases and controls. Notably, our data displays an over-transmitted functional haplotype C-C (Pro307-Ala851) inschizophreniacases. Our results suggestSTON2may be a susceptibility gene forschizophrenia.
SCZ Keywords schizophrenia
2 PLoS ONE 2013 -1 8: e64090
PMID 23785397
Title Cortical surface area correlates with STON2 gene Ser307Pro polymorphism in first-episode treatment-na�ve patients with schizophrenia.
Abstract Evidence shows thatSTON2gene is associated with synaptic function andschizophrenia. This study aims to explore the relationship between two functional polymorphisms (Ser307Pro and Ala851Ser) ofSTON2gene and the cortical surface area in first-episode treatment-na�ve patients withschizophreniaand healthy controls.
Magnetic resonance imaging of the whole cortical surface area, which was computed by an automated surface-based technique (FreeSurfer), was obtained from 74 first-episode treatment-na�ve patients withschizophrenia和55健康对照组。多个regression analysis was performed to investigate the effect of genotype subgroups on the cortical surface area. A significant genotype-by-diagnosis effect on the cortical surface area was observed. Pro-allele carriers of Ser307Pro polymorphism had larger right inferior temporal surface area than Ser/Ser carriers in the patients withschizophrenia; however, no significant difference was found in the same area in the healthy controls. The Ala851Ser polymorphism ofSTON2gene was not significantly associated with the cortical surface area in patients withschizophreniaand healthy controls.
The present study demonstrated that the functional variant of theSTON2gene could alter cortical surface area on the right inferior temporal and contribute to the pathogenesis ofschizophrenia.
SCZ Keywords schizophrenia
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