1 Hum. Mol. Genet. 2006 Jun 15: 1949-62
PMID 16687443
Title 全基因组表达分析is detects eight genes with robust alterations specific to bipolar I disorder: relevance to neuronal network perturbation.
Abstract The limited number of genome-wide transcriptome analyses using the postmortem brains of bipolar disorder sufferers has not produced a clear consensus on the molecular pathways affected by the disorder. To expand the knowledge in this area, we examined the expression levels of more than 12 000 genes in Brodmann's Area (BA), 46 (dorsolateral prefrontal cortex) from bipolar I disorder and control samples using Affymetrix GeneChips. This analysis detected 108 differentially expressed genes in bipolar brains. Validation studies using quantitative RT-PCR on the two original diagnostic cohorts plus tissue fromschizophrenicsubjects, confirmed the differential expressions of eight genes (RAP1GA1, SST,HLA-DRA, KATNB1, PURA, NDUFV2, STAR and PAFAH1B3) in a bipolar-specific manner and one gene (CCL3) which was downregulated in both bipolar andschizophrenicbrains. Of these, protein levels of RAP1GA1 (RAP1 GTPase activating protein 1) showed a trend of increase in BA46 from bipolar brains, in keeping with mRNA transcript levels. Transmission disequilibrium analysis of the nine genes using 43 single nucleotide polymorphisms (SNPs) in 229 National Institute of Mental Health bipolar trios exposed nominal SNP association and modest empirical haplotypic association (P=0.033) between SST (somatostatin) and disease. Finally, gene network analysis using the currently obtained expression data highlighted cellular growth and nervous system development pathways as potential targets in the molecular pathophysiology of bipolar disorder.
SCZ Keywords schizophrenia, schizophrenic
2 Psychiatry Res 2015 Aug 228: 945-9
PMID 26160200
Title Genes involved in pruning and inflammation are enriched in a large mega-sample of patients affected by Schizophrenia and Bipolar Disorder and controls.
Abstract A molecular pathway analysis has been performed in order to complement previous genetic investigations onschizophrenia. 4486schizophrenicpatients and 4477 controls served as the investigation sample. 3521 Bipolar patients and 3195 controls served as replication sample. A molecular pathway associated with the neuronal pruning activity was found to be enriched in subjects withschizophreniacompared to controls. HLA-C andHLA-DRAhad more SNPs associated with bothschizophreniaand Bipolar Disorder than expected by chance.
SCZ Keywords schizophrenia, schizophrenic
3 Psychiatry Res 2015 Aug 228: 945-9
PMID 26160200
Title Genes involved in pruning and inflammation are enriched in a large mega-sample of patients affected by Schizophrenia and Bipolar Disorder and controls.
Abstract A molecular pathway analysis has been performed in order to complement previous genetic investigations onschizophrenia. 4486schizophrenicpatients and 4477 controls served as the investigation sample. 3521 Bipolar patients and 3195 controls served as replication sample. A molecular pathway associated with the neuronal pruning activity was found to be enriched in subjects withschizophreniacompared to controls. HLA-C andHLA-DRAhad more SNPs associated with bothschizophreniaand Bipolar Disorder than expected by chance.
SCZ Keywords schizophrenia, schizophrenic
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