Common variants conferring risk of schizophrenia: A pathway analysis of GWAS data

Peilin Jia, Lily Wang, Herbert Y. Meltzer, Zhongming Zhao

Research output: Contribution to journalArticlepeer-review

158 Scopus citations


Unlike the typical analysis of single markers in genome-wide association studies (GWAS), we incorporated Gene Set Enrichment Analysis (GSEA) and hypergeometric test and combined them using Fisher's combined method to perform pathway-based analysis in order to detect genes' combined effects on mediating schizophrenia. A few pathways were consistently found to be top ranked and likely associated with schizophrenia by these methods; they are related to metabolism of glutamate, the process of apoptosis, inflammation, and immune system (e.g., glutamate metabolism pathway, TGF-beta signaling pathway, and TNFR1 pathway). The genes involved in these pathways had not been detected by single marker analysis, suggesting this approach may complement the original analysis of GWAS dataset.

Original languageEnglish (US)
Pages (from-to)38-42
Number of pages5
JournalSchizophrenia Research
Issue number1-3
StatePublished - Sep 2010
Externally publishedYes


  • Candidate gene
  • GWAS
  • Gene set enrichment analysis
  • Pathway
  • Schizophrenia

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry


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