2021 Fiscal Year Final Research Report
Dissecting the mechanism of autoimmune diseases using sQTL in immune cells
| Project/Area Number |
18H02849
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Review Section |
Basic Section 54020:Connective tissue disease and allergy-related
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
Kochi Yuta 東京医科歯科大学, 難治疾患研究所, 教授 (60415156)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Keywords | 自己免疫疾患 / sQTL / ゲノムワイド関連解析 / ロングリードシークエンス |
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| Outline of Final Research Achievements |
Genome-wide association studies have identified more than 100 candidate loci for autoimmune diseases. In this study, we identified a total of 159,369 isoforms by RNA-seq in 29 immune-cell subsets using long-read sequencing technology. Some of these were splicing QTLs (sQTLs) whose expression levels were regulated by gene variants, and were causal mechanisms for rheumatoid arthritis and systemic lupus erythematosus.
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| Free Research Field |
ゲノム医学
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| Academic Significance and Societal Importance of the Research Achievements |
本研究によって、免疫遺伝子の多くには、選択的スプライシングによって複数のアイソフォームが存在し、その発現量は遺伝子多型によって制御されていることが明らかになった。これらのアイソフォームカタログを、公共データベースに登録予定であるが、今後、様々な多因子免疫疾患の病因解析に利用可能である。
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