Genetic elucidation of gender identity disorder using GWAS (Genome Wide Association Study)

2020 Fiscal Year Final Research Report

• Project/Area Number: 19K17100
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 52030:Psychiatry-related
• Research Institution: Osaka Medical College
• Principal Investigator: Kinoshita Shinya 大阪医科大学, 医学部, 講師 (70534098)
• Project Period (FY): 2019-04-01 – 2021-03-31
• Keywords: 性同一性障害 / GWAS / 統合失調症

Outline of Final Research Achievements

Exome analysis was performed on 35 cases in the GID group, 35 cases in the normal control group, and 35 cases in the schizophrenia group. Based on the obtained Exome SNPs data, we performed preliminary GWAS analysis in the following case-control designed groups (#1: GID group vs normal group, #2: GID group vs normal group + schizophrenia group, #3: GID group vs schizophrenia group), then we created Manhattan plot based on the SNPs data. As a result, a weak association was suggested for some SNPs on chromosome 15 in #2, although no clear results over genome-wide significance were obtained. The PCSK6 gene in the vicinity has been reported to be associated with aphasia and psychiatric disorders, therefore we are currently analyzing the association between GID and this gene.

Free Research Field

精神科遺伝学

Academic Significance and Societal Importance of the Research Achievements

今回、GID感受性遺伝子を同定することはできなかったが、PCSK6遺伝子の何かしらの関与を思わせる結果があった。このPCSK6遺伝子を中心にGIDに関する遺伝的な研究を継続し、生物学的な基盤を解明できれば、GIDの診断精度は各段に向上する。つまり、身体治療移行に関して科学的な判断ができるようになるため、必要なケースにおいて早期の身体治療が可能となり、その結果、精神的な苦痛を劇的に減らすことができると考える。