Copy number variation analysis of schizophrenia and elucidation of molecular pathogenesis using bioinformatic approach

2016 Fiscal Year Final Research Report

• Project/Area Number: 15K19720
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Psychiatric science
• Research Institution: Nagoya University
• Principal Investigator: Kushima Itaru 名古屋大学, 高等研究院(医), 特任助教 (00732645)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Keywords: 統合失調症 / ゲノムコピー数変異

Outline of Final Research Achievements

Using array comparative genomic hybridization, we performed a genome-wide CNV analysis (1699 SCZ cases and 824 controls). Clinically significant CNVs were significantly more frequent in cases than in controls (odds ratio=3.04, P=9.3 × 10－9). In patients with clinically significant CNVs, 41.7% had a history of congenital/developmental phenotypes, and the rate of treatment resistance was significantly higher (odds ratio=2.79, P=0.0036). Gene set analysis replicated previous findings (e.g., synapse) and identified novel biological pathways including oxidative stress response, genomic integrity, kinase and small GTPase signaling.

Free Research Field

精神医学