Identification of "disease control system" of adult still disease based on whole exon sequence

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K15514
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Collagenous pathology/Allergology
• Research Institution: Nagasaki University
• Principal Investigator: KOGA Tomohiro 長崎大学, 医歯薬学総合研究科(医学系), 助教 (90537284)
• Co-Investigator(Kenkyū-buntansha): 吉浦 孝一郎 長崎大学, 原爆後障害医療研究所, 教授 (00304931) ; 右田 清志 福島県立医科大学, 医学部, 教授 (60264214)
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: 成人発症スチル病 / IL-1β / IL-18 / 全エクソン解析

Outline of Final Research Achievements

The purpose of this study was to identify the disease susceptibility gene and analyze its function by analyzing whole exons using a next-generation sequencer for patients with ASD, and to clarify the pathophysiology of ASD and to develop a new therapeutic drug. The study was carried out as follows. The ASD network was constructed in cooperation with existing autoimmune disease workshop and West Kyushu autoimmune disease workshop.
Clinical information, genomic DNA, serum, blood plasma, and biopsy tissue were collected utilizing the specialist network described above. The obtained genomic DNA was analyzed in whole exon using the next generation sequencer by the cooperative research with Professor Koichiro Yoshiura of Human Genetics, Nagasaki University, and the candidate of disease susceptibility SNP was identified. Using serum samples with ASD and serum samples from patients with sepsis, a cytokine that discriminates between them was identified.

Free Research Field

リウマチ・膠原病学

Academic Significance and Societal Importance of the Research Achievements

ASDは特異的な自己抗体等の血清バイオマーカーがなく、診断は除外診断である。また、重症例ではサイトカインストームによる血球貪食症候群や播種性血管内凝固症候群を引き起こし予後不良である。本研究成果は、血清バイオマーカーによるASDの層別化や敗血症との鑑別を試み、診断に有用なサイトカインの組み合わせを同定した。また、全エクソン解析において、疾患感受性SNPを同定した。現時点でこれらのSNPの病的意義は不明であり、今後の機能的解析が必要であるが、病態解明および新規治療法の開発のシーズとなる可能性がある。