Analysis of rare copy number variations in schizophrenia

2014 Fiscal Year Final Research Report

• Project/Area Number: 26893108
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• 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): 2014-08-29 – 2015-03-31
• Keywords: CNV / 統合失調症

Outline of Final Research Achievements

Rare copy number variations (CNVs) are known to be involved in risk for schizophrenia (SCZ). Phenotypes of patients with 4 SCZ-associated CNVs were examined in detail, and high rate of comorbidity of neurodevelopmental disorders and/or congenital diseases was observed. In trio analysis, deletions at 3q29 and 22q11.21 were found to be de novo, providing additional evidence for their clinical significance. In bioinformatics analysis of CNV data, synaptic dysfunction was identified as an underlying mechanism for SCZ.

Free Research Field

精神医学