Whole-exome sequencing of patients with schizophrenia and their parents

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K08067
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52030:Psychiatry-related
• Research Institution: Niigata University
• Principal Investigator: Watanabe Yuichiro 新潟大学, 医歯学系, 准教授 (90401744)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 統合失調症

Outline of Final Research Achievements

Whole-exome sequencing (WES) studies have shown that ultra-rare coding de novo mutations (DNMs) contribute to the genetic etiology of schizophrenia However, the contribution of DNMs to the risk for schizophrenia remains to be elucidated in the Japanese population. In this study, we attempted to investigate the role of ultra-rare coding DMNs in the genetic etiology of schizophrenia in the Japanese population. We performed WES of 186 individuals from 60 families with schizophrenia to detect DNMs. To confirm DNMs detected, we performed Sanger sequencing. We identified 62 DNMs using WES with depth of 118× and Sanger sequencing.

Free Research Field

精神医学

Academic Significance and Societal Importance of the Research Achievements

統合失調症の発症に大きな効果をもつ可能性があるde novoの候補リスク変異62個を同定した。この成果を基盤として、候補リスク変異が存在する遺伝子について統合失調症との関連を確認する、候補リスク変異の機能を解析することで、統合失調症の病態解明に結び付くものと期待される。