| Project/Area Number |
16K10020
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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 |
Pediatrics
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| Research Institution | Shinshu University |
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Principal Investigator |
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| Research Collaborator |
KOJIMA Katsuhiko
AMANO Yuji
YOSHINO Kazuhisa
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | 一塩基遺伝子多型 / インターロイキン4レセプター / 川崎病 / サイトカインレセプター / サイトカイン受容体 / 受容体遺伝子多型 / 小児免疫 / アレルギー / 膠原病学 |
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| Outline of Final Research Achievements |
Kawasaki disease (KD) is a systemic vasculitis which may be associated with coronary artery aneurysms. We found that the single nucleotide variant (SNV) rs563535954, which is located in IL4R locus, is concentrated in KD patients who did not respond to an intravenous immunoglobulin (IVIG) therapy. While the minor allele of rs563535954 was detected in 4 individuals among 33 patients of IVIG-unresponsive KD, the minor allele was observed in 20 of 1,063 individuals according to Japanese genome variation database (odds ratio=7.19). The minor allele of rs563535954 was not found in 42 KD patients who responded to treatment with IVIG (p=0.0337), supporting the possibility that the rs563535954 is associated with IVIG-unresponsiveness rather than onset of KD.
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| Academic Significance and Societal Importance of the Research Achievements |
川崎病患者において免疫グロブリン療法抵抗性に関連する一塩基遺伝子多型、rs563535954を見出した。川崎病関連の一塩基遺伝子多型は人口の数十パーセントが保有する、一般的な一塩基遺伝子多型(common SNPs) と報告されてきた。これらの多型のオッズ比は1.5～2.0ほどで、オッズ比の低いcommon SNPsが多数関連して川崎病に関わると言われてきた。一方、我々は、人口の5％以下の低頻度一塩基遺伝子多型が川崎病の病態に関わると示唆した。この多型はオッズ比7.19と、川崎病関連common SNPsと比較して高く、免疫グロブリン不応答を予測する診断指標としての有用性が見込まれる。
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