Homo sapiens
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ABSTRACT:
PROVIDER: PRJNA117643 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:We examined six pairs of monozygotic twins discordant (MZD) for schizophrenia and identified copy number variation (CNV) and single nucleotide polymorphism (SNP) differences between affected and unaffected co-twins using the Affymetrix Genome Wide SNP 6.0.
2011-11-11 | GSE33598 | GEO
Project description:Genome-wide screening for DNA copy-number variations (CNVs) was conducted for ten pairs, a total of 20 cases, of affected siblings using oligonucleotide array-based CGH. We found negative symptoms were significantly more severe (p < 0.05) in the subgroup that harboring more genetic imbalance (n ≧ 13, n = number of CNV-disrupted genes) as compared with the subgroup with fewer CNVs (n ≦ 6), indicating the degree of genetic imbalance may influence the severity of schizophrenia negative symptoms. Four central nervous system (CNS) related genes including CCAAT/enhancer binding protein, delta (CEBPD, 8q11.21), retinoid X receptor, alpha (RXRA, 9q34.2), LIM homeobox protein 5 (LHX5, 12q24.13) and serine/threonine kinase 11 (STK11, 19p13.3) are recurrently (incidence ≧16.7%) disrupted by CNVs. Two genes, PVR (poliovirus receptor) and BU678720, are concordant deleted in one and two, respectively, pairs of co-affected siblings. However, we did not find significant association of this BU678720 and schizophrenia in a large case-control sample. We conclude that the high genetic loading of CNVs may as the underlying cause of schizophrenia negative symptoms, and the CNS-related genes revealed by this study warrants further investigation.
2010-06-23 | GSE16930 | GEO
Project description:Schizophrenia is a severe psychiatric disease with complex etiology, affecting approximately one percent of the general population. Most genetic studies so far focused on disease association with common genetic variation such as single nucleotide polymorphisms, but recently it has become apparent that large-scale genomic copy number variants (CNVs) are involved in disease development as well. To assess the role of rare CNVs in schizophrenia, we screened 54 patients with deficit schizophrenia using Affymetrixâ GeneChip 250K SNP arrays. Keywords: genomic hybridisation We hybridized genomic DNA of 54 patients with deficit schizophrenia to Affymetrix' GeneChip 250K SNP (Nsp) arrays, and identified genome-wide CNV using the Copy Number Analyzer for Affymetrix GeneChip (CNAG v2.0) software, which uses a Hidden Markov Model (HMM) algorithm to calculate copy numbers.
2010-05-18 | E-GEOD-12714 | biostudies-arrayexpress
Project description:Schizophrenia is a severe psychiatric disease with complex etiology, affecting approximately one percent of the general population. Most genetic studies so far focused on disease association with common genetic variation such as single nucleotide polymorphisms, but recently it has become apparent that large-scale genomic copy number variants (CNVs) are involved in disease development as well. To assess the role of rare CNVs in schizophrenia, we screened 54 patients with deficit schizophrenia using Affymetrix’ GeneChip 250K SNP arrays. Keywords: genomic hybridisation
2008-10-22 | GSE12714 | GEO
Project description:Genetic Copy Number Variants in Myocardial Infarction Patients with Hyperlipidemia
| PRJNA145845 | ENA
Project description:Copy number variations (CNVs) account for a substantial proportion of human genomic variation, and have been shown to cause neurodevelopmental disorders. We sought to determine the relevance of CNVs to the aetiology of schizophrenia. Whole genome, high resolution, tiling path BAC array comparative genomic hybridization (array CGH) was employed to test DNA from 91 individuals with DSM-IV schizophrenia. Common DNA copy number changes that are unlikely to be directly pathogenic in schizophrenia were identified by comparison to a reference dataset of 372 control individuals analysed in our laboratory, and a screen against the Database of Genomic Variants. The remaining aberrations were tested for inheritance from the parents, and validated with Affymetrix 250K SNP arrays or 244K Agilent oligo-arrays. Thirteen aberrations satisfied our criteria. Two of them are very likely to be pathogenic. A deletion at 2p16.3 disrupts NRXN1 and was present in an affected sibling. A de novo duplication at 15q13.1 spans APBA2. The proteins of these two genes interact directly and play a role in synaptic development and function. Both genes have been affected by CNVs in other neurodevelopmental disorders. Keywords: Array CGH
2008-12-25 | GSE8606 | GEO
Project description:We examined six pairs of monozygotic twins discordant (MZD) for schizophrenia and identified copy number variation (CNV) and single nucleotide polymorphism (SNP) differences between affected and unaffected co-twins using the Affymetrix Genome Wide SNP 6.0. Affymetrix SNP arrays were performed according to the manufacurer's protocol on DNA extracted from whole blood CNV analysis was done using Affymetrix Genotyping Console 4.0 and Partek Genotyping Suite
2011-11-11 | E-GEOD-33598 | biostudies-arrayexpress
Project description:Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease
| PRJNA140231 | ENA
Project description:Single-nucleotide variants and copy-number variants in ADHD (Exome)
| PRJNA433353 | ENA
Project description:Schizophrenia, a complex neuropsychiatric disorder, exhibits a wide range of genetic diversity. Multiple Genome-wide studies have identified several Copy Number Variations (CNVs) associated with Schizophrenia. One of the significant CNVs, comprising an intragenic deletion of the CNTNAP2 gene, has been associated with various neuro-developmental and neuro-psychiatric disorders. However, the molecular mechanism leading to the pathogenesis of Schizophrenia remained unclear. In this study, we report a 7q35-36.1del encompassing the entire CNTNAP2 gene in two affected siblings. Human induced Pluripotent Stem Cells (hiPSCs) were generated from both affected individuals. Neurons derived from the patient's hiPSCs lines have revealed that the dendritic length & arborization, spine number & density, soma area & volume were decreased in the patient’s neurons, while axon length was increased. Further classifying the dendritic spines, it was observed that the percentage of filopodia spines was increased, whereas stubby, mushroom and long thin spines were decreased in the patient’s neurons. Transcriptomics of hiPSCs-derived neurons has revealed eight significant dysregulation genes that interact directly or indirectly with CNTNAP2. Of these eight genes, Schizophrenia associated genes, PADI2 and LHX2 were observed to be significantly dysregulated. Overall, this study has identified abnormalities in neuronal architecture in hiPSCs-derived patients’ neurons harbouring CNTNAP2 gene deletion, confirming the disease pathophysiology of Schizophrenia.
2025-11-25 | GSE296979 | GEO