Elucidation of the missing heritability of schizophrenia

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K07319
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 48040:Medical biochemistry-related
• Research Institution: Research Institute, Shiga Medical Center
• Principal Investigator: Tanigaki Kenji 滋賀県立総合病院(研究所), 神経病態研究部門, 専門研究員 (70362473)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: 22q11 deletion syndrome / schizophrenia / epistasis / Comt / Dgcr8 / copy number variation / epistasis / NgR1

Outline of Final Research Achievements

Schizophrenia is a multifactorial genetic disease. However, schizophrenia susceptibility candidate genes with high contribution rates have not been found. 22q11 deletion syndrome is a chromosome disorder. 20-30% of the patients with this deletion develop schizophrenia. In this study, we analyzed which genes in the 22q11 deleted region interact to cause behavioral abnormalities using 22q11 deletion syndrome model mice. To elucidate the missing heritability of schizophrenia, it is necessary to clarify the effects of interactions among schizophrenia susceptibility candidate genes on behavioral abnormalities.

Free Research Field

病態医化学

Academic Significance and Societal Importance of the Research Achievements

統合失調症脆弱性遺伝子群の相互作用（エピスタシス）が、どのように行動異常に発展するかを明らかにできれば、統合失調症のmissing　heritability の解明につながる。　元来、多様な遺伝的原因によって生じるヘテロな疾患の集合と考えられる統合失調症の中で、22q11.2 欠損症候群タイプの統合失調症を診断することが可能になると考えられる。