Whole genome sequence analysis of ADPKD
| Project/Area Number |
18K09151
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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 56030:Urology-related
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| Research Institution | Juntendo University |
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Principal Investigator |
Horie Shigeo 順天堂大学, 医学(系)研究科(研究院), 教授 (40190243)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2019: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2018: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 多発性嚢胞腎 / ADPKD / PKD1 / PKD2 / 生殖細胞系列 / 常染色体優性多発性嚢胞腎 / 生殖細胞系列変異 / 遺伝子解析 / 次世代シークエンサー / 全ゲノムシークエンシング / WGS |
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| Outline of Final Research Achievements |
Analysis of germline mutations and its association with clinical severity was examined in patients with ADPKD. DNA analysis of 258 patients with ADPKD was completed. PKD1 mutations were identified in 186 cases, while PKD2 mutations were detected in 69 cases (26.7%).
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| Academic Significance and Societal Importance of the Research Achievements |
同一家系内での解析は20家系計44名であり、家系内の遺伝子変異部位は一致した。親もしくは同胞の年長者（A）の腎機能と、子もしくは同胞の年少者（B）がAの年齢に達した時の予測腎機能（Mayo分類より算出）を比較したところ、Aの実測eGFR値とBの予測eGFR値の差が15mL/min/1.73m 2 以下であったのは、11家系（55％）であった。同一家系内の遺伝子解析にMayo分類を組み合わせると腎予後予測に有用な可能性が示唆された。
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Report
(4 results)
Research Products
(71 results)
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[Journal Article] Factors predicting decline in renal function and kidney volume growth in autosomal dominant polycystic kidney disease: a prospective cohort study (Japanese Polycystic Kidney Disease registry: J-PKD)2021
Author(s)
Uchiyama K, Mochizuki T, Shimada Y, Nishio S, Kataoka H, Mitobe M, Tsuchiya K, Hanaoka K, Ubara Y, Suwabe T, Sekine A, Nutahara K, Tsuruya K, Ishimura E, Nakatani S, Sofue T, Tanaka S, Narita I, Maruyama S, Horie S, Muto S.
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Journal Title
Clin Exp Nephrol
Volume: 25
Issue: 9
Pages: 970-980
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] The relationship between liver cyst volume and QOL in Japanese ADPKD patients.2020
Author(s)
Muto S, Ando M, Nishio S, Hanaoka K, Ubara Y, Narita I, Kamura K, Mochizuki T, Tsuchiya K, Tsuruya K, Horie S
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Journal Title
Clin Exp Nephrol.
Volume: 24
Issue: 4
Pages: 314-322
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Health utility and health related quality of life of Japanese prostate cancer patients according to progression status measured using EQ-5D-5L and FACT-P2019
Author(s)
Murasawa H, Sugiyama T, Matsuoka Y, Okabe T, Hino A, Tanaka N, Sugimoto M, Oyama M, Fujimoto K, Horie S, Noto S, Shimozuma K
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Journal Title
Qual Lif Res
Volume: -
Issue: 9
Pages: 1-9
DOI
Related Report
Peer Reviewed
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[Presentation] Predictive factors for pathological response in patients receiving neoadjuvant chemotherapy prior to radical cystectomy.2018
Author(s)
Ieda T, Muto S, Noma Y, Kanayama M, Koyasu H, Takahata S, China T, Kitamura K, Nagata M, Isotani S, Wakumoto Y, Horie S.
Organizer
16th Urological Association of Asia Congress 2018.
Related Report
Int'l Joint Research
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