Genetic analysis of a large family with schizophrenia adopting ARMS and developmental disorder traits as intermediate phenotypes

2017 Fiscal Year Final Research Report

• Project/Area Number: 26461721
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: Nagasaki University
• Principal Investigator: IMAMURA Akira 長崎大学, 病院(医学系), 教授 (40325642)
• Co-Investigator(Kenkyū-buntansha): 吉浦 孝一郎 長崎大学, 原爆後障害医療研究所, 教授 (00304931) ; 黒滝 直弘 長崎大学, 医歯薬学総合研究科(医学系), 准教授 (20423634) ; 小澤 寛樹 長崎大学, 医歯薬学総合研究科(医学系), 教授 (50260766)
• Project Period (FY): 2014-04-01 – 2018-03-31
• Keywords: 統合失調症 / 大家系 / ARMS / 発達障害 / 自閉スペクトラム症

Outline of Final Research Achievements

With the purpose of identifying rare risk variants for schizophrenia, we conducted a genetic analysis of a large family including many individuals with schizophrenia. Whole-exome analysis was performed in 10 individuals from this family. Target sequencing of two identified candidate genes was also performed in 288 individuals with schizophrenia and 419 healthy controls, narrowing the candidate gene pool to only gene A. In a behavioral analysis conducted using Gene A knock-in mice created using Crispr-cas9 technology, the genetically modified mice exhibited decreased activity or attenuated motor function.

Free Research Field

精神科遺伝学