Integrative analysis of genes associated with social behavior in Williams syndrome

2022 Fiscal Year Final Research Report

• Project/Area Number: 19K08251
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• Research Institution: Kyoto University
• Principal Investigator: Kimura Ryo 京都大学, 医学研究科, 准教授 (20636641)
• Project Period (FY): 2019-04-01 – 2023-03-31
• Keywords: ウィリアムス症候群 / DNAメチル化 / ネットワーク解析

Outline of Final Research Achievements

The purpose of this study was to find genes associated with social behavior in Williams syndrome (WS) based on DNA methylation changes. First, we obtained a significant number of blood samples from participants and performed comprehensive DNA methylation profiling. We then applied co-methylation network analysis to identified DNA methylation genes, and by combining this with clinical symptom evaluation, we were able to identify modules that were suggested to be associated with social behavior in WS. Interestingly, the hub gene which located in central to this network, were also significantly altered in the postmortem brains of WS patients. Thus, our study identified a group of genes that may be involved in social behavior in WS.

Free Research Field

精神医学　神経発達症

Academic Significance and Societal Importance of the Research Achievements

ウィリアムス症候群は、7番染色体の片側にある複数の遺伝子の欠失により生じ、高い社交性含む特徴的な症状から、近年非常に注目を集めている。しかし、これまでに欠失領域内の遺伝子研究や質問紙を用いた臨床研究が多く行われてきたが、行動異常など症状に関わる遺伝子については十分に解明されていなかった。本研究により、DNAメチル化異常がウィリアムス症候群の病態に関わっていることが明らかになった。これは、ウィリアムス症候群にみられる多彩な症状の原因を説明する重要な手がかりを与える知見であり、今後さらなる病態の飛躍的な解明につながることが期待される。