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  • 1
    Online Resource
    Online Resource
    Nucks1 gene polymorphism rs823114 is associated with the positive symptoms and neurocognitive function of patients with schizophrenia in parts of southern China
    Ovid Technologies (Wolters Kluwer Health) ; 2021
    In:  Psychiatric Genetics Vol. 31, No. 4 ( 2021-08), p. 119-125
    Details
    In: Psychiatric Genetics, Ovid Technologies (Wolters Kluwer Health), Vol. 31, No. 4 ( 2021-08), p. 119-125
    Abstract: Nuclear casein kinase and cyclin-dependent kinase substrate 1 (nucks1) are considered a potential susceptibility gene for certain neurological diseases, such as Parkinson’s disease (PD). In our study, we genotyped three single nucleotide polymorphisms (SNPs) (rs4951261, rs823114 and rs951366) of the nucks1 gene in 774 schizophrenic patients and 819 healthy controls using the improved multiplex ligation detection reaction (imLDR) technique. Furthermore, we also studied the relationship between the above SNPs and the clinical psychiatric symptoms and neurocognitive function of the patients. Genotype distributions and allele frequencies of these SNPs showed no significant differences and were found between patients and healthy controls. However, in an analysis of the positive symptom score of rs823114 among male patients, we found that the score of the A/A genotype was lower than that of the G/A+G/G genotypes ( P = 0.001, P (corr) = 0.003]. Additionally, we also found that among the female patients, G allele carriers with rs823114 had lower semantic fluency scores than subjects with the A/A genotype ( P = 0.010, P (corr) = 0.030]. Our data show for the first time that rs823114 polymorphism of nucks1 may affect positive symptoms and neurocognitive function in patients with schizophrenia in parts of southern China.
    Type of Medium: Online Resource
    ISSN: 0955-8829
    URL: Article
    DOI: 10.1097/YPG.0000000000000285
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2021
    detail.hit.zdb_id: 2063156-X
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  • 2
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    The genetic variations in SAP97 gene and the risk of schizophrenia in the Chinese Han population: a further study
    Ovid Technologies (Wolters Kluwer Health) ; 2020
    In:  Psychiatric Genetics Vol. 30, No. 4 ( 2020-8), p. 110-118
    Details
    In: Psychiatric Genetics, Ovid Technologies (Wolters Kluwer Health), Vol. 30, No. 4 ( 2020-8), p. 110-118
    Abstract: Based on our previous discovery that SAP97 rs3915512 polymorphism significantly affects the cognitive function of schizophrenia, we further genotyped the other 12 single-nucleotide polymorphisms (SNPs) capturing the known common haplotype variations of this gene in a sample including 1014 patients with schizophrenia and 1078 matched controls. Results There were no significant differences in the distribution of genotypes and alleles of the 12 SNPs of SAP97 between the patients and the controls (all P 〉 0.05). But, in the evaluation of the phenotypic effects of these SNPs on the patients’ clinical symptoms and cognitive functions. While patients with minor allele in the rs9843659 polymorphism had higher N5 (difficulty in abstract thinking) scores than that with the main genotype ( P = 0.002, Pcor = 0.014), the patients with minor allele in the rs6805920, rs4916461 and rs7638423 had lower verbal memory scores ( P = 0.003, 0.003, 0.001, Pcor = 0.021, 0.021, 0.007, respectively) and the P values of these SNPs were still significant after the Bonferroni correction. Conclusion Our data are further to indicate that the SAP97 gene polymorphisms may affect neurocognitive function especially verbal memory and the first to suggest that the SAP97 rs9843659 polymorphism may influence abstract thinking of schizophrenic patients in the southern Han Chinese population.
    Type of Medium: Online Resource
    ISSN: 0955-8829
    URL: Article
    DOI: 10.1097/YPG.0000000000000257
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2020
    detail.hit.zdb_id: 2063156-X
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  • 3
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    Table_1.DOCX
    Frontiers Media SA ; 2019
    In:  Frontiers in Genetics Vol. 10 ( 2019-5-28)
    Details
    In: Frontiers in Genetics, Frontiers Media SA, Vol. 10 ( 2019-5-28)
    Type of Medium: Online Resource
    ISSN: 1664-8021
    URL: Article
    URL: Article
    DOI: 10.3389/fgene.2019.00513
    DOI: 10.3389/fgene.2019.00513.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2019
    detail.hit.zdb_id: 2606823-0
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  • 4
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    Table_1.DOC
    Frontiers Media SA ; 2021
    In:  Frontiers in Psychiatry Vol. 12 ( 2021-7-19)
    Details
    In: Frontiers in Psychiatry, Frontiers Media SA, Vol. 12 ( 2021-7-19)
    Abstract: Functional and structural disturbances in the orbitofrontal–striatal–thalamic circuitry are thought to be associated with mental symptoms and neurocognitive impairments in schizophrenia. This study tested whether synapse-associated protein 97 (SAP97), a reasonable candidate gene for schizophrenia, is related to orbitofrontal–striatal–thalamic connection changes in first-episode schizophrenia (FES) patients and the clinical performance of schizophrenic patients by affecting this integrity. Fifty-two FES patients and 52 matched healthy controls were recruited. All subjects underwent genotyping via the improved multiplex ligation detection reaction technique and scanning with magnetic resonance imaging (MRI) to provide orbitofrontal–striatal–thalamic functional and structural imaging data. A two-way analysis of covariance model was employed to examine abnormal brain connectivities, and Spearman correlations were applied to estimate the relationships between brain connectivity and clinical manifestations. In the FES group, those with the SAP97 rs3915512 TT genotype showed lower structural and functional connectivity than A allele carriers between the orbitofrontal gyrus and striatum/thalamus. In the FES group, negative correlations were found between resting-state functional connectivity (RSFC) in the orbitofrontal gyrus and thalamus, and positive symptoms between structural connections in the orbitofrontal gyrus and striatum and cognitive functions, and positive correlations were suggested between RSFC in the orbitofrontal gyrus and thalamus and negative symptoms. Our findings suggested that the SAP97 rs3915512 polymorphism may be involved in mental symptoms and cognitive dysfunction in FES patients by influencing structural and functional connectivity of the orbitofrontal–striatal and orbitofrontal–thalamic regions.
    Type of Medium: Online Resource
    ISSN: 1664-0640
    URL: Article
    URL: Article
    DOI: 10.3389/fpsyt.2021.691007
    DOI: 10.3389/fpsyt.2021.691007.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2564218-2
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  • 5
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    Online Resource
    Table_1.docx
    Frontiers Media SA ; 2021
    In:  Frontiers in Genetics Vol. 12 ( 2021-2-23)
    Details
    In: Frontiers in Genetics, Frontiers Media SA, Vol. 12 ( 2021-2-23)
    Abstract: Objective : To investigate the effects of microRNA-137 ( MIR137 ) polymorphisms (rs1198588 and rs2660304) on the risk of schizophrenia in a Han Chinese population. Methods : Schizophrenia was diagnosed according to the DSM-5. Clinical symptoms and cognitive functions were assessed with the Positive and Negative Symptom Scale (PANSS) and Brief Assessment of Cognition in Schizophrenia (BACS), respectively. The polymorphisms were genotyped by improved multiplex ligation detection reaction (iMLDR) technology in 1,116 patients with schizophrenia and 1,039 healthy controls. Results : Significant associations were found between schizophrenia and MIR137 in the distributions of genotypes ( p = 0.037 for rs1198588; p = 0.037 for rs2660304, FDR corrected) and alleles ( p = 0.043 for rs1198588; p = 0.043 for rs2660304, FDR corrected) of two SNPs. When the population was stratified by sex, we found female-specific associations between MIR137 and schizophrenia in terms of genotype and allele distributions of rs1198588 ( χ 2 = 4.41, p = 0.036 and χ 2 = 4.86, p = 0.029, respectively, FDR corrected) and rs2660304 ( χ 2 = 4.74, p =0.036 and χ 2 = 4.80, p = 0.029, respectively, FDR corrected). Analysis of the MIR137 haplotype rs1198588-rs2660304 showed a significant association with schizophrenia in haplotype T-T [ χ 2 = 4.60, p = 0.032, OR = 1.32, 95% CI (1.02–1.70)]. Then, significant female-specific associations were found with the haplotypes T-T and G-A [ χ 2 = 4.92, p = 0.027, OR = 1.62, 95% CI (1.05–2.50); χ 2 = 4.42, p = 0.035, OR = 0.62, 95% CI (0.39–0.97), respectively]. When the TT genotype of rs1198588 was compared to the GT+GG genotype, a clinical characteristics analysis also showed a female-specific association in category instances ( t = 2.76, p = 0.042, FDR corrected). Conclusion : The polymorphisms within the MIR137 gene are associated with susceptibility to schizophrenia, and a female-specific association of MIR137 with schizophrenia was reported in a Han Chinese population.
    Type of Medium: Online Resource
    ISSN: 1664-8021
    URL: Article
    URL: Article
    DOI: 10.3389/fgene.2021.627874
    DOI: 10.3389/fgene.2021.627874.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2606823-0
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  • 6
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    Table_3.DOC
    Frontiers Media SA ; 2020
    In:  Frontiers in Genetics Vol. 11 ( 2020-10-8)
    Details
    In: Frontiers in Genetics, Frontiers Media SA, Vol. 11 ( 2020-10-8)
    Type of Medium: Online Resource
    ISSN: 1664-8021
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.3389/fgene.2020.572414
    DOI: 10.3389/fgene.2020.572414.s001
    DOI: 10.3389/fgene.2020.572414.s002
    DOI: 10.3389/fgene.2020.572414.s003
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2020
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  • 7
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    Table_1.pdf
    Frontiers Media SA ; 2021
    In:  Frontiers in Molecular Neuroscience Vol. 14 ( 2021-11-1)
    Details
    In: Frontiers in Molecular Neuroscience, Frontiers Media SA, Vol. 14 ( 2021-11-1)
    Abstract: This research aimed to investigate the role of glyoxalase 1 (Glo-1) polymorphisms in the susceptibility of schizophrenia. Using the real-time polymerase chain reaction (PCR) and spectrophotometric assays technology, significant differences in Glo-1 messenger ribonucleic acid (mRNA) expression ( P = 3.98 × 10 −5 ) and enzymatic activity ( P = 1.40 × 10 −6 ) were found in peripheral blood of first-onset antipsychotic-naïve patients with schizophrenia and controls. The following receiver operating characteristic (ROC) curves analysis showed that Glo-1 could predict the schizophrenia risk ( P = 4.75 × 10 −6 in mRNA, P = 1.43 × 10 −7 in enzymatic activity, respectively). To identify the genetic source of Glo-1 risk in schizophrenia, Glo-1 polymorphisms (rs1781735, rs1130534, rs4746, and rs9470916) were genotyped with SNaPshot technology in 1,069 patients with schizophrenia and 1,023 healthy individuals. Then, the impact of risk polymorphism on the promoter activity, mRNA expression, and enzymatic activity was analyzed. The results revealed significant differences in the distributions of genotype ( P = 0.020, false discovery rate (FDR) correction) and allele ( P = 0.020, FDR correction) in rs1781735, in which G & gt; T mutation significantly showed reduction in the promoter activity ( P = 0.016), mRNA expression, and enzymatic activity (P = 0.001 and P = 0.015, respectively, GG vs. TT, in peripheral blood of patients with schizophrenia) of Glo-1. The expression quantitative trait locus (eQTL) findings were followed up with the resting-state functional magnetic resonance imaging (fMRI) analysis. The TT genotype of rs1781735, associated with lower RNA expression in the brain ( P & lt; 0.05), showed decreased neuronal activation in the left middle frontal gyrus in schizophrenia ( P & lt; 0.001). In aggregate, this study for the first time demonstrates how the genetic and biochemical basis of Glo-1 polymorphism culminates in the brain function changes associated with increased schizophrenia risk. Thus, establishing a combination of multiple levels of changes ranging from genetic variants, transcription, protein function, and brain function changes is a better predictor of schizophrenia risk.
    Type of Medium: Online Resource
    ISSN: 1662-5099
    URL: Article
    URL: Article
    DOI: 10.3389/fnmol.2021.739526
    DOI: 10.3389/fnmol.2021.739526.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2452967-9
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  • 8
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    CACNA1C (rs1006737) may be a susceptibility gene for schizophrenia: An updated meta‐analysis
    Wiley ; 2019
    In:  Brain and Behavior Vol. 9, No. 6 ( 2019-06)
    Details
    In: Brain and Behavior, Wiley, Vol. 9, No. 6 ( 2019-06)
    Abstract: Schizophrenia is a serious mental illness with a genetic predisposition. Genome‐wide association studies (GWAS) have identified the α‐1C subunit of the L‐type voltage‐gated calcium channel ( CACNA1C ) gene as a significant risk gene for schizophrenia. However, there are inconsistent conclusions in case–control studies. Methods We performed a comprehensive meta‐analysis of all available samples from existing studies under four different genetic models (recessive model, dominant model, additive model and allele model) to further confirm whether CACNA1C rs1006737 is an authentic risk single nucleotide polymorphism (SNP) for schizophrenia. Results A statistically significant difference under the four models (all p   〈  0.05) was observed by pooling nine Asian and European studies, including a total of 12,744 cases and 16,460 controls. For European‐decent samples, a significant difference was identified between patients and controls for the four models (all p   〈  0.05). We observed a significant difference between patients and controls for the recessive model and allele model (GG vs. GA + AA: p   〈  0.00001; G vs. A: p   〈  0.00001) using a fixed effect model, but the dominant model (GG + GA vs. AA: OR: p  = 0.15) and additive model (GG vs. AA: p  = 0.11) showed no significant difference between patients and controls in the Asian samples. Conclusion Our findings provide important evidence for the establishment of CACNA1C as a susceptibility gene for schizophrenia across world populations, but its roles in the pathogenesis of schizophrenia need to be further investigated.
    Type of Medium: Online Resource
    ISSN: 2162-3279 , 2162-3279
    URL: Issue
    URL: Article
    DOI: 10.1002/brb3.2019.9.issue-6
    DOI: 10.1002/brb3.1292
    Language: English
    Publisher: Wiley
    Publication Date: 2019
    detail.hit.zdb_id: 2623587-0
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  • 9
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    Genetic contribution of synapse-associated protein 97 to cerebellar functional connectivity changes in first-episode schizophrenia
    Springer Science and Business Media LLC ; 2023
    In:  BMC Psychiatry Vol. 23, No. 1 ( 2023-08-29)
    Details
    In: BMC Psychiatry, Springer Science and Business Media LLC, Vol. 23, No. 1 ( 2023-08-29)
    Abstract: Our previous study data suggested that the synapse-associated protein 97 (SAP97) rs3915512 polymorphism is significantly related to clinical performance in schizophrenia. The cerebellum exhibits abundant expression of SAP97, which is involved with negative symptoms, cognition and emotion in schizophrenia. As functional dysconnectivity with the cortical-subcortical-cerebellar circuitry has been widely shown in patients with schizophrenia, cortical-subcortical-cerebellar dysconnectivity can therefore be considered a possible intermediate phenotype that connects risk genes with schizophrenia. In this study, resting-state functional magnetic resonance imaging (fMRI) was applied to evaluate whether the SAP97 rs3915512 polymorphism changes cortical/subcortical-cerebellar resting-state functional connectivity (RSFC) in 104 Han Chinese subjects (52 first-episode schizophrenia (FES) patients and 52 matched healthy controls (HCs)). To examine RSFC between cortical/subcortical regions and the cerebellum, a ROI (region of interest)-wise functional connectivity analysis was conducted. The association between abnormal cortical/subcortical-cerebellar connectivity and clinical manifestation was further assessed in FES patients with different genotypes. The interactive effect of disease and genotype on RSFC was found between the frontal gyrus (rectus) and cerebellum. A positive correlation was suggested between RSFC in the cerebellum and the hostility scores in FES patients with the A allele, and no correlation was found in FES patients with the TT genotype. The current findings identified that SAP97 may be involved in the process of mental symptoms in FES patients via cerebellar connectivity depending on the rs3915512 polymorphism genotype.
    Type of Medium: Online Resource
    ISSN: 1471-244X
    URL: Article
    DOI: 10.1186/s12888-023-05036-9
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 2050438-X
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  • 10
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    Association of the Synapse-Associated Protein 97 (SAP97) Gene Polymorphism With Neurocognitive Function in Schizophrenic Patients
    Frontiers Media SA ; 2018
    In:  Frontiers in Psychiatry Vol. 9 ( 2018-9-26)
    Details
    In: Frontiers in Psychiatry, Frontiers Media SA, Vol. 9 ( 2018-9-26)
    Type of Medium: Online Resource
    ISSN: 1664-0640
    URL: Article
    DOI: 10.3389/fpsyt.2018.00458
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2018
    detail.hit.zdb_id: 2564218-2
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