Whole genome sequencing analysis for investigation of biomarker candidates for Gender Dysphoria

2020 Fiscal Year Final Research Report

• Project/Area Number: 17K10283
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: Kumamoto University (2018-2020); Saitama Medical University (2017)
• Principal Investigator: Nakachi Yutaka 熊本大学, 大学院生命科学研究部(医), 助教 (10522097)
• Co-Investigator(Kenkyū-buntansha): 金沢 徹文 大阪医科大学, 医学部, 教授 (20534100)
• Project Period (FY): 2017-04-01 – 2021-03-31
• Keywords: 性別違和 / 性同一性障害 / 全ゲノム解析

Outline of Final Research Achievements

We investigated for GD-related genes that can be the molecular basis for early diagnosis of Gender Dysphoria. Since any polymorphisms and mutations strongly related to GD have not been reported in the analysis focusing on sex hormone-related genes so far, we performed whole-genome sequence analysis to detect mutations and polymorphisms in the entire genome of the GD individuals. Not only the standard reference sequence (hg38 / GRCh38) but also the Japanese genome sequence and variant frequency information (JG2, etc.) were used. In addition, bioinformatics analysis such as integration with expression analysis data in mouse brain derived from previous studies, GO enrichment analysis, and transcription factor recognition sequence analysis was also performed.

Free Research Field

分子生物学

Academic Significance and Societal Importance of the Research Achievements

性別違和（性同一性障害）当事者は国内外で数万人に1人いる。当事者へのケアには性ホルモンの使用や外科的措置などの身体に不可逆な臨床・医療ケアが必要なことが多く、特に第2次性徴を迎えた若年GD当事者への迅速診断のための生物学的基準が望まれているが未だ実現していない。また当事者への医療介入には保険適用がなされない場合も多く、社会的な偏見も根強く残っている。本研究の成果は当事者への医療ケア改善に大きく貢献できる成果が得られるだけでなく、GDの社会的な認知の改善にも貢献すると期待できる。