2018 Fiscal Year Annual 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 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 |
藤波 芳 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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| Project Period (FY) |
2017 – 2018
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| Keywords | 眼遺伝学 |
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| Outline of Annual Research Achievements |
本研究の目的は、先進国における最大の失明原因の一つであるABCA4関連網膜症に対して、７か国約900症例のABCA4網膜症世界コホートを構築する事により、病的変異の世界分布、民族・地域間での変異頻度・病態の差異を調査し、遺伝性網膜疾患の治療導入を世界規模で強力に推進する事である。
参加施設は7か国13施設であり、本邦東京医療センター、米国6施設、仏国1施設、独国1施設、中国2施設、韓国１施設にて、同一の臨床診断に基いたABCA4網膜症の症例リクルートが行われた。平成31年3月現在、本邦278例、英国328症例、米国150症例、韓国８症例、中国より42症例、仏国61症例、独国49症例の合計916症例の登録が完了した。登録症例の年齢の中央値は31.0才(標準偏差: 17.2)、男女比は1対1.1であった。発症年齢の中央値は15.0才(標準偏差: 13.3)であり、罹患期間の中央値は11.0年(標準偏差: 14.4)であった。民族の内訳はヨーロッパ人375症例、アジア人365症例、アフリカ人30症例、その他（含：不明）146症例であった。ヌル変異の有無による遺伝子型分類、分子モデリングにより算出された変異インパクトスコアは、発症年齢、電気生理学的表現型分類と関連・相関を示した。
各民族に対する高頻度病的変異は、ヨーロッパ人ではp.Gly1961Glu (11.6%)、p.Gly863Ala (8.2%)、c.5461-10T>C (8.0%)、アジア人ではp.Gly1961Glu (9.3%)、c.1760+2T>G (5.6%)、p.Asn965Ser (2.6%)、アフリカ人ではp.Arg2017His (14.8%)、p.Val989Ala (9.3%)、p.Val643Met (5.6%)であった。各民族間で、病的変異における有意な差異が同定された。
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Research Products
(57 results)
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[Presentation] Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake窶冱 disease); EAOMD Report No.1.2018
Author(s)
Fujinami K, Yang L, Joo K, Tsunoda K, Kawamura Y, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Zou X, Li H, Park KH, Iwata T, Miyake Y, Woo SJ, Sui R
Organizer
The Association for Research in Vision and Ophthalmology (ARVO) 2018 Conference.
Int'l Joint Research
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[Presentation] Multimodal Imaging of East Asian Patients with Occult Macular Dystrophy (Miyake窶冱 disease) EAOMD Report No. 3.2018
Author(s)
Joo K, Yang L, Tsunoda K, Kondo M, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Iwata T, Zou X, Li H, Miyake Y, Park KH, Fujinami K, Sui R, Woo SJ.
Organizer
The Association for Research in Vision and Ophthalmology (ARVO) 2018 Conference.
Int'l Joint Research
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[Presentation] Genotype Phenotype Association in East Asian Patients with Occult Macular Dystrophy (Miyake窶冱 disease); EAOMD Report No.4.2018
Author(s)
Fujinami (Yokokawa) Y, Yang L, Joo K, Tsunoda K, Kondo M, Arno G, Liu X, Tsubota K, Iwata T, Zou X, Li H, Park KH, Miyake Y, Woo SJ, Sui R, Fujinami K.
Organizer
The Association for Research in Vision and Ophthalmology (ARVO) 2018 Conference.
Int'l Joint Research
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[Presentation] Clinical and Genetic Characteristics of East Asian Patients with Stargardt disease; EAStar Report No.1.2018
Author(s)
Fujinami K, Liu X, Joo K, Tsunoda K, Hayashi T, Shinoda K, Mizota A, Kondo M, Kuniyoshi K, Fujinami (Yokokawa) Y, Yang L, Arno G, Kurihara T, Tsubota K, Miyake Y, Li Y, Park KH, Ma DJ, Yu HG, Lei B, Iwata T, Woo SJ, Li S.
Organizer
The 56th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV)
Int'l Joint Research
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[Presentation] Distribution of generalized functional phenotype of East Asian Patients with Stargardt Disease (STGD1): EAStar studies report 2.2018
Author(s)
Liu X, Yang L, Joo K, Tsunoda K, Hayashi T, Shinoda K, Mizota A, Kondo M, Kuniyoshi K, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Miyake Y, Li Y, Park KH, Ma DJ, Yu HG, Lei B, Iwata T, Woo SJ, Li S, Fujinami K.
Organizer
The 56th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV)
Int'l Joint Research
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[Presentation] Full-field Electroretinograms Features of East Asian Patients with Occult Macular Dystrophy (Miyake窶冱 disease); EAOMD Report No.2.1.2018
Author(s)
Yang L, Joo K, Tsunoda K, Mineo K, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Iwata T, Zou X, Li H, Park KH, Miyake Y, Woo SJ, Sui R, Fujinami K.
Organizer
The 56th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV)
Int'l Joint Research
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[Presentation] Genotype Phenotype Association in East Asian Patients with Occult Macular Dystrophy (Miyake窶冱 disease); EAOMD Report No.4.2018
Author(s)
Fujinami (Yokokawa) Y, Yang L, Joo K, Tsunoda K, Kondo M, Arno G, Liu X, Kuriahra T, Tsubota K, Zou X, Li H, Park KH, Miyake Y, Iwata T, Woo SJ, Sui R, Fujinami K.
Organizer
The 56th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV)
Int'l Joint Research
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[Presentation] clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.1.2018
Author(s)
Fujinami K, Yang L, Joo K, Tsunoda K, Kawamura Y, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Zou X, Li H, Park KH, Iwata T, Miyake Y, Woo SJ, Sui R
Organizer
The Association for Research in Vision and Ophthalmology (ARVO) 2018 Conference.
Int'l Joint Research
-
[Presentation] Multimodal Imaging of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease) EAOMD Report No. 3.2018
Author(s)
Joo K, Yang L, Tsunoda K, Kondo M, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Iwata T, Zou X, Li H, Miyake Y, Park KH, Fujinami K, Sui R, Woo SJ.
Organizer
The Association for Research in Vision and Ophthalmology (ARVO) 2018 Conference.
Int'l Joint Research
-
[Presentation] Genotype Phenotype Association in East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.4.2018
Author(s)
Fujinami (Yokokawa) Y, Yang L, Joo K, Tsunoda K, Kondo M, Arno G, Liu X, Tsubota K, Iwata T, Zou X, Li H, Park KH, Miyake Y, Woo SJ, Sui R, Fujinami K.
Organizer
The Association for Research in Vision and Ophthalmology (ARVO) 2018 Conference.
Int'l Joint Research
-
[Presentation] Full-field Electroretinograms Features of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.2.1.2018
Author(s)
Yang L, Joo K, Tsunoda K, Mineo K, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Iwata T, Zou X, Li H, Park KH, Miyake Y, Woo SJ, Sui R, Fujinami K.
Organizer
The 56th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV)
Int'l Joint Research
-
[Presentation] Genotype Phenotype Association in East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.4.2018
Author(s)
Fujinami (Yokokawa) Y, Yang L, Joo K, Tsunoda K, Kondo M, Arno G, Liu X, Kuriahra T, Tsubota K, Zou X, Li H, Park KH, Miyake Y, Iwata T, Woo SJ, Sui R, Fujinami K.
Organizer
The 56th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV)
Int'l Joint Research
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