Genome-wide association analysis for personalized medicine in thyroid eye disease

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K09773
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56060:Ophthalmology-related
• Research Institution: Kyushu University
• Principal Investigator: Tanabe Mika 九州大学, 大学病院, 助教 (90621293)
• Co-Investigator(Kenkyū-buntansha): 秋山 雅人 九州大学, 医学研究院, 講師 (10757686) ; 田邉 真紀人 福岡大学, 医学部, 准教授 (60707305)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: Thyroid eye disease / exhaustive gene search

Outline of Final Research Achievements

An exhaustive gene search related to Thyroid eye disease (TED) has not been conducted. In this study, we aimed to perform a comprehensive genetic analysis of TED to identify treatment sensitivity genes that define individual differences in response to steroid treatment, so that we can provide　individualized treatment for each patient.
Blood samples were taken at the Department of Ophthalmology, Kyushu University, for patients with hyperthyroidism and TED (Group A), and at the Department of Endocrinology and Diabetes, Fukuoka University, for patients with hyperthyroidism and without TED (Group B).During the entire period, 130 Group A and 46 Group B samples were genotyped.
We will apply to Biobank Japan for use of the data, and if approved, we plan to verify the reproducibility of the results by analyzing the genotype data and clinical information on patients with Graves' disease obtained from the Biobank.

Free Research Field

Ocular oncology

Academic Significance and Societal Importance of the Research Achievements

甲状腺眼症の網羅的遺伝子解析を行うことで、ステロイド治療に対する個人差を規定する治療感受性遺伝子を同定することで、ステロイド反応不良が予測される症例については別の治療を提案するなど、患者個人にあった治療を提供できるようになる。
また、現在、欧米では、甲状腺眼症に対する生物学製剤も認可されており、現在本邦でも臨床試験が行われており、今後の治療発展が目覚ましい疾患と考える。甲状腺眼症患者の遺伝子解析を行うことは、今後薬剤の治療対象を決定する上でも重要な情報になることが予想される。