Identification and analysis of genes influencing serum uric acid levels
Project/Area Number |
23591205
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Kidney internal medicine
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Research Institution | Tokyo University of Pharmacy and Life Science |
Principal Investigator |
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Co-Investigator(Kenkyū-buntansha) |
JUTABHA Promsuk 獨協医科大学, 医学部, 助教 (90541748)
KIMURA Toru 杏林大学, 医学部, 講師 (30433725)
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Co-Investigator(Renkei-kenkyūsha) |
HOSOYAMADA Makoto 帝京大学, 薬学部, 教授 (00291659)
MATSUO Hirotaka 防衛医科大学校, 医学部, 講師 (00528292)
NAKAMURA Makiko 東京薬科大学, 薬学部, 助教 (80447557)
NAKAMURA Yoshihiro 防衛医科大学校, 医学部, 准教授 (60415255)
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Project Period (FY) |
2011 – 2013
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Project Status |
Completed (Fiscal Year 2013)
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Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2011: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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Keywords | 高尿酸血症 / 痛風 / 尿酸トランスポーター / ABCG2 / 腎外排泄低下型高尿酸血症 / 排泄低下型高尿酸血症 / 産生過剰型高尿酸血症 / 発症年齢 / 腎負荷型高尿酸血症 / 低尿酸血症 / URAT1 / GLUT9 / URATv1 |
Research Abstract |
A function of ABCG2, urate excretive transporter, is evaluated by the combination of the no-functional SNP, Q126X and the half functional SNP, Q141K. The estimated ABCG2 dysfunction leads to the urinary urate excretion increase and this mechanism was elucidated using Abcg2 knock-out mice. As a new mechanism for hyperuricemia, we demonstrated that hyperuricemia results from the intestinal urate excretion decrease via ABCG2, leading to urinary urate excretion increase (extra-renal urate underexcretion type hyperuricemia). We also indicated that ABCG2 dysfunction is related with early-onset gout and that the slight and mild dysfunctions mainly cause underexcretion type hyperuricemia, while severe dysfunction causes extra-renal urate underexcretion type hyperuricemia.
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Report
(4 results)
Research Products
(57 results)
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[Journal Article] A common variant of organic anion transporter 4 (OAT4/SLC22A11) gene is associated with renal underexcretion type gout2014
Author(s)
Sakiyama M, Matsuo H, Shimizu S, Nakashima H, Nakayama A, Chiba T, Naito M, Takada T, Suzuki H, Hamajima N, Ichida K, Shimizu T, Shinomiya N
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Journal Title
Drug Metab Pharmacokinet
Volume: 29(2)
Pages: 208-10
NAID
Related Report
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[Journal Article] A common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility2014
Author(s)
Sakiyama M, Matsuo H, Shimizu S, Chiba T, Nakayama A, Takada Y, Nakamura T, Takada T, Morita E, Naito M, Wakai K, Inoue H, Tatsukawa S, Sato J, Shimono K, Makino T, Satoh T, Suzuki H, Kanai Y, Hamajima N, Sakurai Y, Ichida K, Shimizu T, Shinomiya N
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Journal Title
Hum Cell
Volume: 27(1)
Pages: 1-4
Related Report
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[Journal Article] ABCG2 dysfunction causes hyperuricemia due to both renal urate underexcretion and renal urate overload2014
Author(s)
Matsuo H, Nakayama A, Sakiyama M, Chiba T, Shimizu S, Kawamura Y, Nakashima H, Nakamura T, Takada Y, Oikawa Y, Takada T, Nakaoka H, Abe J, Inoue H, Wakai K, Kawai S, Guang Y, Nakagawa H, Ito T, Niwa K, Yamamoto K, Sakurai Y, Suzuki H, Hosoya T, Ichida K, Shimizu T, Shinomiya N
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Journal Title
Sci Rep
Volume: 4
Pages: 3755-3755
Related Report
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[Journal Article] A common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility2014
Author(s)
Sakiyama, M. Matsuo, H. Shimizu, S. Chiba, T. Nakayama, A. Takada, Y. Nakamura, T. Takada, T. Morita, E. Naito, M. Wakai, K. Inoue, H. Tatsukawa, S. Sato, J. Shimono, K. Makino, T. Satoh, T. Suzuki, H. Kanai, Y. Hamajima, N. Sakurai, Y. Ichida, K. Shimizu, T. Shinomiya, N.
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Journal Title
Hum Cell
Volume: 27(1)
Issue: 1
Pages: 1-4
DOI
Related Report
Peer Reviewed
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[Journal Article] Common dysfunctional variants in ABCG2 are a major cause of early-onset gout2013
Author(s)
Matsuo H, Ichida K, Takada T, Nakayama A, Nakashima H, Nakamura T, Kawamura Y, Takada Y, Yamamoto K, Inoue H, Oikawa Y, Naito M, Hishida A, Wakai K, Okada C, Shimizu S, Sakiyama M, Chiba T, Ogata H, Niwa K, Hosoyamada M, Mori A, Hamajima N, Suzuki H, Kanai Y, Sakurai Y, Hosoya T, Shimizu T, Shinomiya N
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Journal Title
Sci Rep
Volume: 3
Pages: 2014-2014
Related Report
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[Journal Article] Common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility2013
Author(s)
Nakayama A, Matsuo H, Shimizu T, Ogata H, Takada Y, Nakashima H, Nakamura T, Shimizu S, Chiba T, Sakiyama M, Ushiyama C, Takada T, Inoue K, Kawai S, Hishida A, Wakai K, Hamajima N, Ichida K, Sakurai Y, Kato Y, Shimizu T, Shinomiya N
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Journal Title
Hum Cell
Volume: 26(4)
Pages: 133-6
Related Report
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[Journal Article] A common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility2013
Author(s)
Nakayama, A. Matsuo, H. Shimizu, T. Ogata, H. Takada, Y. Nakashima, H. Nakamura, T. Shimizu, S. Chiba, T. Sakiyama, M. Ushiyama, C. Takada, T. Inoue, K. Kawai, S. Hishida, A. Wakai, K. Hamajima, N. Ichida, K. Sakurai, Y. Kato, Y. Shimizu, T. Shinomiya, N.
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Journal Title
Hum Cell
Volume: 26(4)
Issue: 4
Pages: 133-6
DOI
Related Report
Peer Reviewed
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[Journal Article] Decreased extra-renal urate excretion is a common cause of hyperuricemia2012
Author(s)
Ichida K, Matsuo H, Takada T, Nakayama A, Murakami K, Shimizu T, Yamanashi Y, Kasuga H, Nakashima H, Nakamura T, Takada Y, Kawamura Y, Inoue H, Okada C, Utsumi Y, Ikebuchi Y, Ito K, Nakamura M, Shinohara Y, Hosoyamada M, Sakurai Y, Shinomiya N, Hosoya T, Suzuki H
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Journal Title
Nat Commun
Volume: 3
Pages: 764-764
Related Report
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[Journal Article] Two cases of nephrotic syndrome (NS)-induced acute kidney injury (AKI) associated with renal hypouricemia2011
Author(s)
Takeda Y, Abe A, Nakanishi S, Umezu M, Hirano K, Hayakawa H, Ohno I, Ichida K, Yamaguchi Y, Hosoya T, Fukagawa M
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Journal Title
Clin Nephrol
Volume: 76(1)
Pages: 78-82
Related Report
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[Presentation] Common Dysfunctional Variants of ABCG2 Decrease Extra-renal Urate Excretion and Cause Hyperuricemia2013
Author(s)
Ichida K, Matsuo H, Takada T, Nakayama A, Shimizu T, Nakashima H, Nakamura T, Takada Y, Kawamura Y, Sakurai Y, Shinomiya N, Suzuki H, Hosoya T
Organizer
The 2nd International Congress on Personalized Medicine
Place of Presentation
Paris, France
Related Report
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[Presentation] Common dysfunctional variants of ABCG2 cause renal overload hyperuricemia2013
Author(s)
Matsuo H, Takada T, Nakayama A, Shimizu T, Nakashima H, Nakamura T, Takada Y, Hosoya T, Shinomiya N, Ichida K
Organizer
Symposium of the Asia Pacific League of Associations for Rheumatology 2013
Place of Presentation
Bali, Indonesia
Related Report
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[Presentation] Common dysfunctional variants of urate exporter gene ABCG2/BCRP are a major cause of early-onset gout2013
Author(s)
Matsuo H, Ichida K, Takada T, Nakayama A, Nakashima H, Nakamura T, Kawamura Y, Takada Y, Yamamoto K, Shimizu S, Sakiyama M, Chiba T, Hamajima N, Sakurai Y, Shinomiya N
Organizer
The American Society of Human Genetics 63rd Annual Meeting
Place of Presentation
Boston, USA
Related Report
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[Presentation] ABCG2遺伝子の機能低下型変異は若年発症痛風の主要な病因である2013
Author(s)
中山昌喜,松尾洋孝,市田公美,髙田龍平,高田雄三,井上寛規,清水聖子,崎山真幸,細山田真,横尾隆,細谷龍男,清水徹,四ノ宮成祥
Organizer
第47回日本痛風・核酸代謝学会総会
Place of Presentation
神戸
Related Report
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[Presentation] Novel common mechanism of hyperuricemia by decreased extra-renal urate excretion2012
Author(s)
Ichida K, Matsuo H, Takada T, Nakayama A, Murakami K, Shimizu T, Yamanashi Y, Kasuga H, Nakashima H, Nakamura T, Takada Y, Kawamura Y, Utsumi Y, Nakamura M, Hosoyamada M, Sakurai Y, Shinomiya N, Hosoya T, Suzuki H
Organizer
European Human Genetics Conference 2012
Place of Presentation
Nürnberg, Germany
Related Report
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[Presentation] Common dysfunctional variants of ABCG2 decrease extra-renal urateexcretion and cause hyperuricemia2012
Author(s)
Matsuo H, Takada T, Nakayama A, Shimizu T, Kasuga H, Nakashima H, Nakamura T, Takada Y, Kawamura Y, Utsumi Y, Ogata H, Nakamura M, Sakurai Y, Hosoya T, Shinomiya N, Suzuki H, Ichida K
Organizer
62nd The American Society of Human Genetics Annual Meeting
Place of Presentation
San Francisco, USA
Related Report
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[Presentation] 尿酸の腸管排泄低下は高尿酸血症の主要な新規機序である2012
Author(s)
市田公美,松尾洋孝,高田龍平,中山昌喜,清水徹,春日裕志,中島宏,中村好宏,高田雄三,河村優輔,内海由貴,中村真希子,櫻井裕,細谷龍男,四ノ宮成祥,鈴木洋史
Organizer
第99回日本消化器病学会総会
Place of Presentation
鹿児島
Related Report
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[Presentation] Changes in uric acid levels with dysfunctional ABCG2 and novel pathophysiological model of hyperuricemia2011
Author(s)
Nakayama A, Matsuo H, Ichida K, Takada T, Takada Y, Nakashima H, Nakamura T, Sakurai Y, Hamajima N, Suzuki H, Shinomiya N
Organizer
4th Federation of European Biochemical Societies (FEBS) special meeting on ATP-Binding Cassette (ABC) Proteins (ABC2012)
Place of Presentation
Innsbruck, Austria
Related Report
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