2018 Fiscal Year Final Research Report
Establishment of an intercontinental cohort database for ABCA4-associated retinal disorder in global eye genetic consortium, including 7 countries from Europe, America, and Asia(Fostering Joint International Research)
| Project/Area Number |
16KK0193
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| Research Category |
Fund for the Promotion of Joint International Research (Fostering Joint International Research)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Ophthalmology
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| Research Institution | 独立行政法人国立病院機構(東京医療センター臨床研究センター) |
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Principal Investigator |
Fujinami Kaoru 独立行政法人国立病院機構(東京医療センター臨床研究センター), 視覚研究部 視覚生理学研究室, 室長 (60646206)
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| Research Collaborator |
Michaelides Michel UCL Institute of Ophthalmology, Genetics, Professor
TSUNODA Kazushige
IWATA Takeshi
MIYAKE Yozo
WEBSTER Andrew
ARNO Gavin
PONTIKOS Nikolas
SERGONIOTIS Panagiotis
SCHOLL Hendrik
STRAUSS Rupert
WEST Siela
KAHN Kamron
BERNSTEIN Paul
BIRCH David
BOMOTTI Samantha
CIDECYAN Artur
TRABOUSLI Elias
ZRENNER Eberhart
TRABOUSLI Elias
SERGEEV Yuri
ALLIKMETS Rando
SUI Ruifang
LI Shiying
LEI Bo
ZHANG Qingjiong
YANG Lizhu
FUJINAMI Yu (YOKOKAWA Yu)
LIU Xiao
WOO Se joon
JOO Kwangik
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| Project Period (FY) |
2017 – 2018
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| Keywords | 眼遺伝学 |
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| Outline of Final Research Achievements |
The purpose of this study is to establish a global cohort of ABCA4-associated retinal disorders, a leading cause of blindness in the developed nations, utilizing an international database under global collaboration. Global consortium includes 13 institutes from 7 countries; National Tokyo Medical Center from Japan, 6 institutes from USA, one from UK, one from Germany, two from China, one from Korea. Based on the standardized clinical diagnostic criteria, 916 subjects have been registered in total; Japan (278), UK (328), USA (150), France (61), Germany (49), China (42), Korea (8). Statistically significant difference of allele frequency of prevalent variants was revealed between ethnicity, which promotes to develop the clinical therapeutic trials in each continent.
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| Free Research Field |
眼遺伝学
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| Academic Significance and Societal Importance of the Research Achievements |
本研究で構築された900例を超えるABCA4関連網膜症コホートは遺伝性希少疾患として世界最大級のものとなった。民族内訳はヨーロッパ人375例、アジア人365例、アフリカ人30例、その他146例であった。また、各民族に対する高頻度病的バリアントが同定され、大陸・民族・地域単位での病態理解、詳細な遺伝子型表現型相関・関連が構築された。本研究において、大陸・民族・地域単位での病態理解が進んだ事で、同疾患の治療導入が文字通り世界規模で推進された。今後は、さらなる症例集積を継続する事で、バリアントの世界分布・起源解析が可能となり、失明原因としての同疾患の人類規模での発症メカニズムの解明が期待される。
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