Rare SETD1A variants and risk of schizophrenia in a Japanese population

2020 Fiscal Year Final Research Report

• Project/Area Number: 19K17057
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 52030:Psychiatry-related
• Research Institution: Niigata University
• Principal Investigator: Morikawa Ryo 新潟大学, 医学部, 非常勤講師 (40839198)
• Project Period (FY): 2019-04-01 – 2021-03-31
• Keywords: 統合失調症

Outline of Final Research Achievements

The SETD1A gene was identified as a risk gene for schizophrenia with a large effect in Caucasians. The aim of this study is to assess whether the SETD1A gene is also the risk gene for schizophrenia in a Japanese population.
We sequenced the protein-coding region of SETD1A in 924 patients with schizophrenia to comprehensively search for rare variants in the gene. We identified three rare novel putatively functional missense variants.

Free Research Field

精神医学

Academic Significance and Societal Importance of the Research Achievements

本研究により日本人統合失調症の発症に大きな効果を持つ可能性があるSETD1A遺伝子の新規の機能的なミスセンス変異を3つ同定した。今後は、これらの候補リスク変異と統合失調症の関連解析を行い、SETD1A遺伝子が日本人においても統合失調症の発症に大きな効果をもつリスク遺伝子であることを明らかにしたい。