2020 Fiscal Year Final Research Report
Evaluation for genetic predisposition and clinical pathological stratification in cardiac sarcoidosis
| Project/Area Number |
18K08071
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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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| Review Section |
Basic Section 53020:Cardiology-related
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| Research Institution | Osaka University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
坂田 泰史 大阪大学, 医学系研究科, 教授 (00397671)
朝野 仁裕 大阪大学, 医学系研究科, 講師 (60527670)
木岡 秀隆 大阪大学, 医学系研究科, 助教 (70642099)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Keywords | サルコイドーシス |
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| Outline of Final Research Achievements |
Cardiac sarcoidosis defines the prognosis for sarcoidosis. In addition to the immunological genetic factors known for the development of cardiac sarcoidosis, we hypothesized that mutations in cardiomyopathy-related genes might be involved, and examined 78 cases of cardiac sarcoidosis in terms of both clinical information and genomic information. HLA typing was performed in 74 cases and cardiomyopathy-related genes in 73 cases. HLA-DQB1*06:01 possession was observed in 39 cases, but no association with cardiac dysfunction or conduction disorder was observed. On the other hand, cardiomyopathy-related genes were found in 8 cases, and there is a possibility that the genes are significantly retained in patients with decreased cardiac function. We plan to reexamine them by accumulating more cases in the near future.
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| Free Research Field |
循環器一般、不整脈
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| Academic Significance and Societal Importance of the Research Achievements |
サルコイドーシスは原因不明の肉芽腫性疾患である。サルコイドーシスの症状発現部位は、目、肺、心臓、消化管などが知られており、臨床像は多彩である。中でも心臓サルコイドーシスはサルコイドーシスの予後を規定する。重症化した心臓サルコイドーシスは特発性拡張型心筋症と病態が類似し、心臓移植以外の有効な治療法が存在しない。サルコイドーシスが重症化するメカニズムに関して、既知の免疫学的な遺伝要素に加え、心筋症関連遺伝子の変異が関与しているのではないかとの仮説をたて、その仮説を検証することで、重症化する症例の早期発見、介入に関する新たな手法の確立につながるものと考えられる。
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