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Gene Set #268204 - GWAS Catalog Data for schizophrenia in 2,681 European ancestry cases, 2,653 European ancestry controls, 1,286 African American cases, 973 African American controls

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Description: List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies ( The disease/trait examined in this study, as reported by the authors, was Schizophrenia. The EFO term schizophrenia was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Uploaded: 02 May 2017
Species: Homo sapiens
Attribution: 6
Authors: J Shi, DF Levinson, J Duan, AR Sanders, Y Zheng, I Pe'er, F Dudbridge, PA Holmans, AS Whittemore, BJ Mowry, A Olincy, F Amin, CR Cloninger, JM Silverman, NG Buccola, WF Byerley, DW Black, RR Crowe, JR Oksenberg, DB Mirel, KS Kendler, R Freedman, PV Gejman
Title: Common variants on chromosome 6p22.1 are associated with schizophrenia.
Journal: Nature Aug 2009 , Vol 460 , pp. 753-7
Abstract: Schizophrenia, a devastating psychiatric disorder, has a prevalence of 0.5-1%, with high heritability (80-85%) and complex transmission. Recent studies implicate rare, large, high-penetrance copy number variants in some cases, but the genes or biological mechanisms that underlie susceptibility are not known. Here we show that schizophrenia is significantly associated with single nucleotide polymorphisms (SNPs) in the extended major histocompatibility complex region on chromosome 6. We carried out a genome-wide association study of common SNPs in the Molecular Genetics of Schizophrenia (MGS) case-control sample, and then a meta-analysis of data from the MGS, International Schizophrenia Consortium and SGENE data sets. No MGS finding achieved genome-wide statistical significance. In the meta-analysis of European-ancestry subjects (8,008 cases, 19,077 controls), significant association with schizophrenia was observed in a region of linkage disequilibrium on chromosome 6p22.1 (P = 9.54 x 10(-9)). This region includes a histone gene cluster and several immunity-related genes--possibly implicating aetiological mechanisms involving chromatin modification, transcriptional regulation, autoimmunity and/or infection. These results demonstrate that common schizophrenia susceptibility alleles can be detected. The characterization of these signals will suggest important directions for research on susceptibility mechanisms.   PUBMED: 19571809
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Ontological Associations:
  • EFO:0000692: schizophrenia (GeneWeaver Primary Annotation)

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