Genetic Analysis in Immune-mediated necrotizing myopathy
| Project/Area Number |
17K09785
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | Tokai University |
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Principal Investigator |
OHNUKI Yuko 東海大学, 医学部, 准教授 (20384927)
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| Co-Investigator(Kenkyū-buntansha) |
鈴木 重明 慶應義塾大学, 医学部(信濃町), 准教授 (50276242)
西野 一三 国立研究開発法人国立精神・神経医療研究センター, 神経研究所 疾病研究第一部, 部長 (00332388)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2019: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 炎症性筋疾患 / 免疫介在性壊死性ミオパチー / HLA / 免疫関連副作用筋炎 / HLA遺伝子 / 壊死性ミオパチー / 遺伝子解析 |
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| Outline of Final Research Achievements |
Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of subacute, chronic or acute systemic immune-mediated diseases of the skeletal muscles. Recently, research has shown the utility of adding new classifications of myopathies, mainly based on their pathology and the presence of specific autoantibodies. Immune-mediated necrotizing myopathy (IMNM) is a histologic entity characterized by marked necrosis in the absence of prominent lymphocytes. We identified HLA risk alleles of Japanese IIM patients including IMNM. HLA-A*02:07, B*46:01, C*01:02, DRB1*08:03, DRB1*11:01, DQB1*06:01, DPB1*05:01 were confirmed as risk factors in IMNM pathients. We also evaluated differences in risk alleles among IMNM subtypes, and among IIM.
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| Academic Significance and Societal Importance of the Research Achievements |
炎症性筋疾患は、従来筋力低下と筋痛を伴う多発筋炎と、特徴的な皮膚症状を伴う皮膚筋炎の二つに分類されてきた。近年、研究が進んだことにより、上記2病型以外に複数の病型があることが判明した。これらは自己免疫疾患であり、何らかの遺伝学的背景があることは想定されていたが、これまで病理学的検討や自己抗体の解明に比べ、研究が進んでこなかった。今回の成果は、免疫機序に重要な役割を果たすHLA遺伝子のうち、特に日本人患者に特徴的な疾患関連アレルを見出すことができた。これは、筋炎の発症機序を解明する一助となり、診断や治療法の開発における有用なデータとなると確信する。
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Report
(4 results)
Research Products
(12 results)
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[Journal Article] Inflammatory myopathy associated with PD-1 inhibitors.2019
Author(s)
Seki M, Uruha A, Ohnuki Y, Kamada S, Noda T, Onda A, Ohira M, Isami A, Hiramatsu S, Hibino M, Nakane S, Noda S, Yutani S, Hanazono A, Yaguchi H, Takao M, Shiina T, Katsuno M, Nakahara J, Matsubara S, Nishino I, Suzuki S.
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Journal Title
J Autoimmun
Volume: in press
Pages: 105-113
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Inflammatory myopathy associated with PD-1 inhibitors2019
Author(s)
Seki M., Uruha A., Ohnuki Y., Kamada S., Noda T., Onda A., Ohira M., Isami A., Hiramatsu S., Hibino M., Nakane S., Noda S., Yutani S., Hanazono A., Yaguchi H., Takao M., Shiina T., Katsuno M., Nakahara J., Matsubara S., Nishino I., Suzuki S.
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Journal Title
Journal of Autoimmunity
Volume: 印刷中
Related Report
Peer Reviewed / Open Access
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