Transcriptome study of differential expression in schizophrenia

Schizophrenia is a common and severe psychotic disorder. While some common SNPs and rare copy number variants have been identified as being significantly associated with disease risk, the biological mechanisms remain undefined. To identify gene expression abnormalities in schizophrenia, we generated whole-genome gene expression profiles using microarrays on lymphoblastoid cell lines from a total of 413 cases and 446 controls. Regression analysis identified 95 transcripts differentially expressed by affection status at a genome-wide false discovery rate of 0.05, while simultaneously controlling for confounding effects. These transcripts represented 89 genes with functions such as neurotransmission, gene regulation, cell cycle progression, differentiation, apoptosis, and immunity. The observed differential expression of extended major histocompatibility complex region genes converges with the genetic evidence from schizophrenia genome-wide association studies, which find the same region to be the most significant schizophrenia susceptibility locus. Our analysis also provides novel candidate genes for further study to assess their potential contribution to schizophrenia.

While this dbGaP accession (phs000775.v1.p1) focuses on schizophrenia case-control gene expression assayed by arrays, please visit dbGaP accession phs001932.v1.p1 for subsequent schizophrenia case-control gene expression studies assayed by RNAseq.

• Study Design:
  • Case-Control
• Study Type:
  • Case-Control
• Total number of consented subjects: 859
• Subject Sample Telemetry Report (SSTR)

These are described in detail in the following manuscript and its supplementary materials: Sanders AR, Goring HH, Duan J, Drigalenko EI, Moy W, Freda J, He D, Shi J; MGS, Gejman PV. Transcriptome study of differential expression in schizophrenia. Hum Mol Genet. 2013 Dec 15;22(24):5001-14. doi: 10.1093/hmg/ddt350. Epub 2013 Jul 30. PMID: 23904455

• Primary Phenotype: Schizophrenia

• Principal Investigator
  • Alan R. Sanders, MD. NorthShore University HealthSystem, Evanston, IL, USA.
• Funding Source
  • RC2MH090030. National Institutes of Mental Health, Bethesda, MD, USA.