Development of association analysis method for rare diseases based on comprehensive HLA typing with multiple risk factors
| Project/Area Number |
16K18474
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Medical genome science
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| Research Institution | Kyoto University |
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Principal Investigator |
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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 |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2018: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2017: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2016: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
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| Keywords | HLA / 次世代シークエンサー / タイピング / アルゴリズム / 遺伝統計学 / マルチプレックスPCR / ジェノタイピング / ソフトウェア / 関連解析 / HTLV-1 / ゲノム / 免疫学 / バイオインフォマティクス |
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| Outline of Final Research Achievements |
We have established novel sequencing and typing technologies for HLA genes that can type more comprehensive HLA alleles with high resolution than conventional typing method. We have also developed a method for association analysis that can derive susceptible or protective amino acid residues on HLA protein with considering various risk factors of disease development. By using the developed methods, we carried out HLA typing of 928 patients of HTLV-1 associated myelopathy (HAM), 2,398 asymptomatic HTLV-1 carriers and 2,553 uninfected controls, and conducted association study between HLA genes and HAM development. As a result, we could identify susceptible and protective amino acid residues for HAM development that have different effect with proviral load.
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| Academic Significance and Societal Importance of the Research Achievements |
従来のHLAアレルのタイピング方法は、高コストでありながら得られる精度や情報が少ないため、解析を行うためのサンプル数の不足や、得られたHLAアレルやアミノ酸残基の頻度に歪みが生じるといった問題が存在した。本研究で確立したHLA解析技術を用いることで、高精度でありながら低コストにHLA遺伝子解析を行うことが可能であり、様々な難治性疾患における発症リスクや診断に有用となるバイオマーカーの発見が期待できる。
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Report
(5 results)
Research Products
(16 results)
