Searching for the genetic factors predisposing to PBC
| Project/Area Number |
15K06908
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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 |
Medical genome science
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| Research Institution | The University of Tokyo |
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Principal Investigator |
KAWASHIMA Minae 東京大学, 大学院医学系研究科(医学部), 客員研究員 (00396706)
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| Co-Investigator(Renkei-kenkyūsha) |
NAKAMURA Minoru 長崎医療センター, 臨床研究センター, 客員研究員 (40217906)
TOKUNAGA Katsushi 東京大学, 大学院医学系研究科, 教授 (40163977)
NISHIDA Nao 国立国際医療研究センター, 肝炎・免疫研究センター, 上級研究員 (50456109)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2017: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2016: ¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2015: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
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| Keywords | PBC / 遺伝要因探索 / ゲノムワイド関連解析 / replication study / 層別化解析 / 国際共同研究 / 原発性胆汁性胆管炎（PBC） / ゲノムワイド関連解析（GWAS） / 層別化解析（悪性化） / ヒト白血球抗原（HLA） / Imputtaion / 機能解析 / 原発性胆汁性肝硬変 / Replication Study |
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| Outline of Final Research Achievements |
Primary biliary cholangitis (PBC) is a chronic and progressive cholestatic liver disease, presumably caused by autoimmune reactions against biliary epithelial cells, leading to liver cirrhosis and hepatic failure. The incidence and prevalence of PBC range from 0.33 to 5.8 and from 2 to 40 per 100,000 inhabitants, respectively, in different geographical areas. Additionally, it is much more common in women, with a sex ratio of at least 7:1 female to male. The high concordance rate in monozygotic twins compared to dizygotic twins and familial clustering of PBC patients indicates the involvement of strong genetic factors in the development of PBC. For the identification of susceptibility genetic factors for pathology, progression, and pathology of PBC, a genome-wide association study (GWAS) and classification analyses were performed in a large number of Japanese individuals (1381 PBC cases and 1505 healthy controls). Functional analyses in vivo and in silico were also performed.
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Report
(4 results)
Research Products
(31 results)
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[Journal Article] Fine-mapping analysis revealed complex pleiotropic effect and tissue-specific regulatory mechanism of TNFSF15 in primary biliary cholangitis, Crohn's disease and leprosy.2016
Author(s)
Sun Y, Irwanto A, Toyo-Oka L, Hong M, Liu H, Andiappan AK, Choi H, Hitomi Y, Yu G, Yu Y, Bao F, Wang C, Fu X, Yue Z, Wang H, Zhang H, Kawashima M, Kojima K, Nagasaki M, Nakamura M, Yang SK, Ye BD, Denise Y, Rotzschke O, Song K, Tokunaga K, Zhang F, Liu J
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Journal Title
Scientific Reports
Volume: 6
Pages: 31429
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Disease susceptibility genes shared by primary biliary cirrhosis and Crohn's disease in the Japanese population.2015
Author(s)
Aiba Y, Yamazaki K, Nishida N, Kawashima M, Hitomi Y, Nakamura H, Komori A, Fuyuno Y, Takahashi A, Kawaguchi T, Takazoe M, Suzuki Y, Motoya S, Matsui T, Esaki M, Matsumoto T, Kubo M, Tokunaga K, Nakamura M
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Journal Title
J Hum Genet.
Volume: 60
Pages: 525-531
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Presentation] Imputation analysis using reference panel of 1,070 Japanese individuals (1KJPN) and in silico / in vitro functional analyses identified functional variants for primary biliary cirrhosis (PBC) susceptibility.2017
Author(s)
Hitomi Y, Kojima K, Kawashima M, Kawai Y, Nishida N, Aiba Y, Yasunami M, Nagasaki M, Nakamura M, Tokunaga K
Organizer
The 13th International Congress of Human Genetics
Place of Presentation
京都国際会議場（京都府京都市）
Year and Date
2017-04-03 – 2017-04-07
Related Report
Int'l Joint Research
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[Presentation] Controlled-access databases for genetic and phenotypic human data in Japan.2017
Author(s)
Y. Kodama, A. Fukuda, J. Mashima, M. Minowa, M. Kawashima, K. Miyazaki, N. Mitsuhashi, E. Kaminuma, O. Ogasawara, K. Okubo, Y. Nakamura, T. Takagi
Organizer
American Society of Human Genetics
Related Report
Int'l Joint Research
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[Presentation] Genome-wide association study identifies PRKCB as a novel genetic factor for primary biliary cirrhosis in the Japanese population2016
Author(s)
M. Kawashima , Y. Hitomi , N. Nishida , K. Kojima , Y. Kawai , H. Nakamura , K. Chayama , Y. Aiba , M. Nagasaki , K. Tokunaga , M. Nakamura , PBC Consortium in Japan (PBCCSJ)
Organizer
American Society of Human Genetics 2017 Annual Meeting
Place of Presentation
Vancouver, Canada
Year and Date
2016-10-18 – 2016-10-22
Related Report
Int'l Joint Research
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[Presentation] Identification of the primary functional variants for Primary biliary cirrhosis (PBC) susceptibility loci by high-density association mapping and in silico / in vitro functional analyses.2016
Author(s)
Hitomi Y, Kojima K, Kawashima M, Kawai Y, Nishida N, Aiba Y, Yasunami M, Nagasaki M, Nakamura M, Tokunaga K
Organizer
American Society of Human Genetics 2017 Annual Meeting
Place of Presentation
Vancouver, Canada
Year and Date
2016-10-18 – 2016-10-22
Related Report
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[Book] 実験医学2017
Author(s)
川嶋実苗
Total Pages
227頁中16頁
Publisher
羊土社
ISBN
978-4-7581-0366-4
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