Association between polymorphisms in the promoter region of the sialyltransferase 8B (SIAT8B) gene and schizophrenia.
- Authors
- Arai, Makoto; Yamada, Kazuo; Toyota, Tomoko; Obata, Nanako; Haga, Seiichi; Yoshida, Yuuki; Nakamura, Kazuhiko; Minabe, Yoshio; Ujike, Hiroshi; Sora, Ichiro; Ikeda, Kazuhiko; Mori, Norio; Yoshikawa, Takeo; Itokawa, Masanari
- Year
- 2006
- Journal
- Biological psychiatry
- PMID
- 16229822
- DOI
- 10.1016/j.biopsych.2005.08.016
BACKGROUND: Sialyltransferase 8B (SIAT8B) and 8D (SIAT8D) are two polysialyltransferases that catalyze the transfer of polysialic acid (PSA) to the neural cell adhesion molecule 1 (NCAM1). PSA modification of NCAM1 plays an important role in neurodevelopment of the brain and disruption of this process is postulated as an etiologic factor in psychiatric disorders. Altered levels of the PSA-NCAM1 in the brain of schizophrenics have been reported, suggesting a role for this molecule in the disorder. METHODS: We performed an association study of single nucleotide polymorphisms (SNPs) within SIAT8B and SIAT8D, using 188 schizophrenics and 156 age and gender matched controls. All genotypes were determined by polymerase chain reaction (PCR) amplification and direct sequencing. RESULTS: Two polymorphisms, -1126T > C and -851T > C, located in the promoter region of SIAT8B showed nominally significant association with schizophrenia (allelic associations, p = .014 and p = .007, respectively), and haplotypes constructed from three additional SNPs located in the same linkage disequilibrium block were associated with schizophrenia. Furthermore an in vitro promoter assay revealed that a reporter construct containing a risk haplotype for SIAT8B had significantly higher transcriptional activity compared with one containing a protective haplotype (p = .021). In contrast, no significant association was observed between any variations in SIAT8D and schizophrenia. CONCLUSIONS: The present study suggests that functional promoter SNPs of SIAT8B could confer a risk for schizophrenia in the Japanese population.
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External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Sialylation in the nervous system: Functions and mechanisms. | Koles K et al. | β | 2026 | β |
| Altered volume of thalamic nuclei and genetic expression in first-episode psychotic patients, and their association with childhood adversity. | Elvira UKA et al. | β | 2025 | β |
| Exploring causal associations between plasma metabolites and attention-deficit/hyperactivity disorder. | Shi S et al. | β | 2025 | β |
| The Importance of N- and O-Glycosylation of Brain Cell Surface Glycoproteins. | Noel M et al. | β | 2025 | β |
| Understanding the Emergence of Schizophrenia in the Light of Human Evolution: New Perspectives in Genetics. | Sandroni V et al. | β | 2025 | β |
| Biological function of sialic acid and sialylation in human health and disease. | Zhu W et al. | β | 2024 | β |
| Long-term effects of a double hit murine model for schizophrenia on parvalbumin expressing cells and plasticity-related molecules in the thalamic reticular nucleus and the habenula. | Klimczak P et al. | β | 2024 | β |
| Siglecs-mediated immune regulation in neurological disorders. | Tu H et al. | β | 2024 | β |
| Therapeutic potential to target sialylation and SIGLECs in neurodegenerative and psychiatric diseases. | WiΓfeld J et al. | β | 2024 | β |
| Association of polysialic acid serum levels with schizophrenia spectrum and bipolar disorder-related structural brain changes and hospitalization. | MΓΌller-Miny L et al. | β | 2023 | β |
| Compromised mammillary body connectivity and psychotic symptoms in mice with di- and mesencephalic ablation of ST8SIA2. | KΓΌΓ§ΓΌkerden M et al. | β | 2022 | β |
| News and Views on Polysialic Acid: From Tumor Progression and Brain Development to Psychiatric Disorders, Neurodegeneration, Myelin Repair and Immunomodulation. | Thiesler H et al. | β | 2022 | β |
| Polysialylation in a DISC1 Mutant Mouse. | Takahashi Y et al. | β | 2022 | β |
| A cancer-unique glycan: de-N-acetyl polysialic acid (dPSA) linked to cell surface nucleolin depends on re-expression of the fetal polysialyltransferase ST8SIA2 gene. | Moe GR et al. | β | 2021 | β |
| Haploinsufficiency of the Attention-Deficit/Hyperactivity Disorder Risk Gene <i>St3gal3</i> in Mice Causes Alterations in Cognition and Expression of Genes Involved in Myelination and Sialylation. | Rivero O et al. | β | 2021 | β |
| Improved methods to characterize the length and quantity of highly unstable PolySialic acids subject category: (Carbohydrates, chromatographic techniques). | Vaill M et al. | β | 2021 | β |
| Lower promoter activity of the ST8SIA2 gene has been favored in evolving human collective brains. | Hayakawa T et al. | β | 2021 | β |
| New Insights Regarding Diagnosis and Medication for Schizophrenia Based on Neuronal Synapse-Microglia Interaction. | Izuo N et al. | β | 2021 | β |
| Targeting sialylation to treat central nervous system diseases. | LΓΌnemann JD et al. | β | 2021 | β |
| Aberrant glycosylation in schizophrenia: a review of 25 years of post-mortem brain studies. | Williams SE et al. | β | 2020 | β |
| Amygdala GluN2B-NMDAR dysfunction is critical in abnormal aggression of neurodevelopmental origin induced by St8sia2 deficiency. | Bacq A et al. | β | 2020 | β |
| Cell-autonomous impact of polysialic acid-producing enzyme ST8SIA2 on developmental migration and distribution of cortical interneurons. | Schuster UE et al. | β | 2020 | β |
| Cell-Type-Specific Proteogenomic Signal Diffusion for Integrating Multi-Omics Data Predicts Novel Schizophrenia Risk Genes. | Torshizi AD et al. | β | 2020 | β |
| Combinational Analyses with Multiple Methods Reveal the Existence of Several Forms of Polysialylated Neural Cell Adhesion Molecule in Mouse Developing Brains. | Mori A et al. | β | 2020 | β |
| Comparative Studies of Polysialic Acids Derived from Five Different Vertebrate Brains. | Yang Y et al. | β | 2020 | β |
| Glycobiology and schizophrenia: a biological hypothesis emerging from genomic research. | Mealer RG et al. | β | 2020 | β |
| Post-translational protein modifications in schizophrenia. | Mueller TM et al. | β | 2020 | β |
| Sialylation and Galectin-3 in Microglia-Mediated Neuroinflammation and Neurodegeneration. | PuigdellΓvol M et al. | β | 2020 | β |
| Functional roles of ST8SIA3-mediated sialylation of striatal dopamine D<sub>2</sub> and adenosine A<sub>2A</sub> receptors. | Lin CY et al. | β | 2019 | β |
| In utero electroporation-based translating ribosome affinity purification identifies age-dependent mRNA expression in cortical pyramidal neurons. | Huang T et al. | β | 2019 | β |
| Sialic Acids in Neurology. | Sato C et al. | β | 2019 | β |
| Differential effect of disease-associated ST8SIA2 haplotype on cerebral white matter diffusion properties in schizophrenia and healthy controls. | Fullerton JM et al. | β | 2018 | β |
| Effects of genetic variants of ST8SIA2 and NCAM1 genes on seasonal mood changes and circadian preference in the general population. | Yang SY et al. | β | 2018 | β |
| Hot Genes in Schizophrenia: How Clinical Datasets Could Help to Refine their Role. | Porcelli S et al. | β | 2018 | β |
| Increased Ξ±-2,8-sialyltransferase 8B (ST8SIA2) expression in schizophrenia superior temporal gyrus | Mueller TM et al. | β | 2018 | β |
| Mental disorders and an acidic glycan-from the perspective of polysialic acid (PSA/polySia) and the synthesizing enzyme, ST8SIA2. | Sato C et al. | β | 2018 | β |
| Positive selection on schizophrenia-associated ST8SIA2 gene in post-glacial Asia. | Fujito NT et al. | β | 2018 | β |
| Advancement of Sialyltransferase Inhibitors: Therapeutic Challenges and Opportunities. | Szabo R et al. | β | 2017 | β |
| Biological roles of glycans. | Varki A | β | 2017 | β |
| Chlorpromazine Increases the Expression of Polysialic Acid (PolySia) in Human Neuroblastoma Cells and Mouse Prefrontal Cortex. | Abe C et al. | β | 2017 | β |
| Different properties of polysialic acids synthesized by the polysialyltransferases ST8SIA2 and ST8SIA4. | Mori A et al. | β | 2017 | β |
| Regulation of extrasynaptic signaling by polysialylated NCAM: Impact for synaptic plasticity and cognitive functions. | Varbanov H et al. | β | 2017 | β |
| Schizophrenia and neurogenesis: A stem cell approach. | Iannitelli A et al. | β | 2017 | β |
| ST8SIA2 promotes oligodendrocyte differentiation and the integrity of myelin and axons. | Szewczyk LM et al. | β | 2017 | β |
| Age of Onset in Schizophrenia Spectrum Disorders: Complex Interactions between Genetic and Environmental Factors. | Mandelli L et al. | β | 2016 | β |
| Effect of NCAM on aged-related deterioration in vision. | Luke MP et al. | β | 2016 | β |
| Effects of intronic single nucleotide polymorphisms (iSNPs) of a polysialyltransferase, ST8SIA2 gene found in psychiatric disorders on its gene products. | Hane M et al. | β | 2016 | β |
| Relationship between ST8SIA2, polysialic acid and its binding molecules, and psychiatric disorders. | Sato C et al. | β | 2016 | β |
| Association between ST8SIA2 and the Risk of Schizophrenia and Bipolar I Disorder across Diagnostic Boundaries. | Yang SY et al. | β | 2015 | β |
| Brain structure, cognition and negative symptoms in schizophrenia are associated with serum levels of polysialic acid-modified NCAM. | Piras F et al. | β | 2015 | β |
| Crosstalk between intracellular and extracellular signals regulating interneuron production, migration and integration into the cortex. | Peyre E et al. | β | 2015 | β |
| Polysialic Acid in Brain Development and Synaptic Plasticity. | Hildebrandt H et al. | β | 2015 | β |
| Protective effects of polysialic acid on proteolytic cleavage of FGF2 and proBDNF/BDNF. | Hane M et al. | β | 2015 | β |
| Rapid Trimming of Cell Surface Polysialic Acid (PolySia) by Exovesicular Sialidase Triggers Release of Preexisting Surface Neurotrophin. | Sumida M et al. | β | 2015 | β |
| Schizophrenia-like phenotype of polysialyltransferase ST8SIA2-deficient mice. | KrΓΆcher T et al. | β | 2015 | β |
| Characterisation of genetic variation in ST8SIA2 and its interaction region in NCAM1 in patients with bipolar disorder. | Shaw AD et al. | β | 2014 | β |
| Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy. | Kamien B et al. | β | 2014 | β |
| Polysialic acid: biosynthesis, novel functions and applications. | Colley KJ et al. | β | 2014 | β |
| Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regeneration. | Schnaar RL et al. | β | 2014 | β |
| St8sia2 deficiency plus juvenile cannabis exposure in mice synergistically affect higher cognition in adulthood. | Tantra M et al. | β | 2014 | β |
| A "double hit" murine model for schizophrenia shows alterations in the structure and neurochemistry of the medial prefrontal cortex and the hippocampus. | Gilabert-Juan J et al. | β | 2013 | β |
| BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies. | Xu C et al. | β | 2013 | β |
| Disialic, oligosialic and polysialic acids: distribution, functions and related disease. | Sato C et al. | β | 2013 | β |
| Genome-wide linkage scan of quantitative traits representing symptom dimensions in multiplex schizophrenia families. | Ryu S et al. | β | 2013 | β |
| Impact of structural aberrancy of polysialic acid and its synthetic enzyme ST8SIA2 in schizophrenia. | Sato C et al. | β | 2013 | β |
| Polysialic acid: versatile modification of NCAM, SynCAM 1 and neuropilin-2. | MΓΌhlenhoff M et al. | β | 2013 | β |
| Polysialylated NCAM and ephrinA/EphA regulate synaptic development of GABAergic interneurons in prefrontal cortex. | Brennaman LH et al. | β | 2013 | β |
| Sex-specific association of the ST8SIAII gene with schizophrenia in a Spanish population. | Gilabert-Juan J et al. | β | 2013 | β |
| Are NCAM deficient mice an animal model for schizophrenia? | Albrecht A et al. | β | 2012 | β |
| GABAergic circuit dysfunctions in neurodevelopmental disorders. | Chattopadhyaya B et al. | β | 2012 | β |
| Homeostatic regulation of NCAM polysialylation is critical for correct synaptic targeting. | Vogt J et al. | β | 2012 | β |
| Identification of sialyltransferase 8B as a generalized susceptibility gene for psychotic and mood disorders on chromosome 15q25-26. | McAuley EZ et al. | β | 2012 | β |
| Metabolism of vertebrate amino sugars with N-glycolyl groups: resistance of Ξ±2-8-linked N-glycolylneuraminic acid to enzymatic cleavage. | Davies LR et al. | β | 2012 | β |
| Neural cell adhesion molecule, NCAM, regulates thalamocortical axon pathfinding and the organization of the cortical somatosensory representation in mouse. | Enriquez-Barreto L et al. | β | 2012 | β |
| Novel regulation of fibroblast growth factor 2 (FGF2)-mediated cell growth by polysialic acid. | Ono S et al. | β | 2012 | β |
| Selective interaction of amyloid precursor protein with different isoforms of neural cell adhesion molecule. | Chen KP et al. | β | 2012 | β |
| Molecular mechanisms underlying activity-dependent GABAergic synapse development and plasticity and its implications for neurodevelopmental disorders. | Chattopadhyaya B | β | 2011 | β |
| Primer on genes encoding enzymes in sialic acid metabolism in mammals. | Wickramasinghe S et al. | β | 2011 | β |
| Sensory experience differentially modulates the mRNA expression of the polysialyltransferases ST8SiaII and ST8SiaIV in postnatal mouse visual cortex. | BΓ©langer MC et al. | β | 2011 | β |
| Structural and functional impairments of polysialic acid by a mutated polysialyltransferase found in schizophrenia. | Isomura R et al. | β | 2011 | β |
| Thalamocortical pathfinding defects precede degeneration of the reticular thalamic nucleus in polysialic acid-deficient mice. | Schiff M et al. | β | 2011 | β |
| A genome-wide scan for common alleles affecting risk for autism. | Anney R et al. | β | 2010 | β |
| NCAM in neuropsychiatric and neurodegenerative disorders. | Brennaman LH et al. | β | 2010 | β |
| Neural cell adhesion molecule-associated polysialic acid regulates synaptic plasticity and learning by restraining the signaling through GluN2B-containing NMDA receptors. | Kochlamazashvili G et al. | β | 2010 | β |
| Signaling pathways involved in NCAM-induced neurite outgrowth. | Ditlevsen DK et al. | β | 2010 | β |
| A genome screen of 35 bipolar affective disorder pedigrees provides significant evidence for a susceptibility locus on chromosome 15q25-26. | McAuley EZ et al. | β | 2009 | β |
| Brain development needs sugar: the role of polysialic acid in controlling NCAM functions. | MΓΌhlenhoff M et al. | β | 2009 | β |
| Developmental regulation of neural cell adhesion molecule in human prefrontal cortex. | Cox ET et al. | β | 2009 | β |
| Imbalance of neural cell adhesion molecule and polysialyltransferase alleles causes defective brain connectivity. | Hildebrandt H et al. | β | 2009 | β |
| Regional and duration of illness differences in the alteration of NCAM-180 mRNA expression within the cortex of subjects with schizophrenia. | Gibbons AS et al. | β | 2009 | β |
| Developmental regulation of GABAergic interneuron branching and synaptic development in the prefrontal cortex by soluble neural cell adhesion molecule. | Brennaman LH et al. | β | 2008 | β |
| Direct binding of polysialic acid to a brain-derived neurotrophic factor depends on the degree of polymerization. | Kanato Y et al. | β | 2008 | β |
| Family-based SNP association study on 8q24 in bipolar disorder. | Zandi PP et al. | β | 2008 | β |
| Impact of the polysialyltransferases ST8SiaII and ST8SiaIV on polysialic acid synthesis during postnatal mouse brain development. | Oltmann-Norden I et al. | β | 2008 | β |
| Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26. | Vazza G et al. | β | 2007 | β |