Investigation of a risk gene for schizophrenia starting from whole-exome sequencing in a Japanese multiplex family and expression analysis in postmortem brain

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09802
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: Niigata University
• Principal Investigator: NUNOKAWA AYAKO 新潟大学, 医歯学総合研究科, 客員研究員 (90584607)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 統合失調症 / エクソーム解析

Outline of Final Research Achievements

Rare genomic variations inherited in multiplex schizophrenia families are suggested to play a role in the genetic etiology of the disease. To identify rare variations with large effects on the risk of developing schizophrenia, we performed whole-exome sequencing(WES) in a multiplex family. We also performed follow-up resequencing of a potential risk gene identified by WES in the multiplex family and affected offspring of trios. Subsequently, we undertook a case-control study to investigate association between a potential risk gene and schizophrenia. A rare missense variation in UNC13B was identified by WES in multiplex family. Resequencing UNC13B coding regions identified five rare missense variations. In the case-control study, there were no significant association between rare missense UNC13B variations and schizophrenia. The present study did not provide supportive evidence for the contribution of UNC13B to susceptibility to schizophrenia in the Japanese population.

Free Research Field

精神医学