Background And Methods: 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.
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http://dx.doi.org/10.1097/YPG.0000000000000257 | DOI Listing |
Pharmgenomics Pers Med
May 2024
Department of Neurology, Shanghai Children's Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai, People's Republic of China.
Background: The IQ motif and Sec7 domain ArfGEF 2 (), an X-linked gene that encodes the BRAG1 protein, is a guanine nucleotide exchange factor for the ADP ribosylation factor (ARF) protein family in the small guanosine triphosphate (GTP) binding protein. Mutations in this gene result in disorders such as intellectual disability (ID) and epilepsy. In this study, we analyze the clinical features of two patients with -mutation-related disease and discuss their possible pathogenesis.
View Article and Find Full Text PDFBMC Psychiatry
August 2023
Institute of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, 524001, China.
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.
View Article and Find Full Text PDFGenes (Basel)
February 2023
Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Background: Brugada syndrome (BrS) is an inherited primary channelopathy syndrome associated to sudden cardiac death. Overall, variants have been identified in eighteen genes encoding for ion channel subunits and seven genes for regulatory proteins. Recently, a missense variant in DLG1 has been found within a BrS phenotype-positive patient.
View Article and Find Full Text PDFBiochem Genet
June 2023
Department of Neurology, The 2nd Affiliated Hospital of Harbin Medical University, No. 246, Xuefu Road, Harbin, 150001, Heilongjiang, China.
Vascular dementia (VaD) is the second most common subtype of dementia, but the precise mechanism underlying VaD is not fully understood. Long non-coding RNA (lncRNA) metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) can act as a key regulator in physiological and pathological processes, including neurological disorders, but whether it is correlated with VaD has not been elucidated. In this study, we established a mouse model of VaD by the transient bilateral common carotid artery occlusion surgery.
View Article and Find Full Text PDFCell Rep
August 2022
Minister of Education (MOE) Key Laboratory of Developmental Genes and Human Disease, School of Life Science and Technology, Southeast University, Nanjing, Jiangsu Province 210096, China; Department of Neurosurgery, Huashan Hospital, Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Shanghai Medical School of Fudan University, Shanghai 200032, China; Department of Neurobiology, Nanjing Medical University, Nanjing, Jiangsu Province 210096, China; Co-innovation Center of Neuroregeneration, Nantong University, Nantong, Jiangsu Province 226001, China. Electronic address:
NMDA receptor (NMDAR) plays a vital role in brain development and normal physiological functions. Surface trafficking of NMDAR contributes to the modulation of synaptic functions and information processing. However, it remains unclear whether NMDAR trafficking is independent of long-term potentiation (LTP) and whether it regulates behavior.
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