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Study of susceptible gene for optic neuritis

Research Project

Project/Area Number 23592554
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Ophthalmology
Research InstitutionThe University of Tokyo

Principal Investigator

KABURAKI Toshikatsu  東京大学, 医学部附属病院, 講師 (00280941)

Co-Investigator(Kenkyū-buntansha) SAWAMURA Hiromasa  東京大学, 医学部附属病院, 助教 (70444081)
竹内 二士夫  東京大学, 医学部附属病院, 講師 (70154979)
徳永 勝士  東京大学, 医学(系)研究科(研究院), 教授 (40163977)
馬淵 昭彦  東京大学, 医学(系)研究科(研究院), 准教授 (80312312)
Co-Investigator(Renkei-kenkyūsha) TAKEUCHI Fujio  東京大学, 医学部附属病院, 講師 (70154979)
TOKUNAGA Katsushi  東京大学, 大学院医学系研究科, 教授 (40163977)
MABUCHI Akihiko  東京大学, 大学院医学系研究科, 准教授 (80312312)
Project Period (FY) 2011 – 2013
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2013: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2011: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Keywords眼遺伝学 / 視神経炎 / 疾患感受性遺伝子 / ゲノムワイド関連解析 / DNAマイクロアレイ / ゲノム解析 / 遺伝子多型
Research Abstract

To examine the susceptible gene for optic neuritis, we collected the clinical data and DNA samples from 73 cases with optic neuritis. We examined SNP types using DNA microarray (Axiom Genome-Wide Human DNA Array) in 51 cases and performed genome wide association analysis to compare with the SNP data of 419 healthy volunteers. Consequently, we found several candidates genes for optic neuritis near the region of short arm in chromosome 2 (C2orf61), short arm in chromosome 4 (RAB28, KCNIP4), short arm in chromosome 9 (GLDC, HAUS6, FAM154A), long arm in chromosome 16 (CBLN1) and short arm in chromosome 17 (CACNG4), that have weak association for optic neuritis.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report
  • Research Products

    (35 results)

All 2014 2013 2012 2011

All Journal Article (18 results) (of which Peer Reviewed: 9 results,  Open Access: 1 results) Presentation (17 results) (of which Invited: 3 results)

  • [Journal Article] The Ocular Behçet Disease Research Group of Japan. Behçet's disease ocular attack score 24: evaluation of ocular disease activity before and after initiation of infliximab2014

    • Author(s)
      Kaburaki T, Namba K, Sonoda K, Kezuka T, Keino H, Fukuhara T, Kamoi K, Nakai K, Mizuki N, Ohguro N
    • Journal Title

      Jpn J Ophthalmol

      Volume: 58(2) Pages: 120-30

    • Related Report
      2013 Final Research Report
  • [Journal Article] Behçet's disease ocular attack score 24: evaluation of ocular disease activity before and after initiation of infliximab.2014

    • Author(s)
      Kaburaki T, Namba K, Sonoda KH, Kezuka T, Keino H, Fukuhara T, Kamoi K, Nakai K, Mizuki N, Ohguro N; Ocular Behçet Disease Research Group of Japan
    • Journal Title

      Jpn J Ophthalmol

      Volume: 58(2) Issue: 2 Pages: 120-130

    • DOI

      10.1007/s10384-013-0294-0

    • NAID

      40020019721

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Effects of Japanese herbal medicine Sairei-to on murine experimental autoimmune uveitis2013

    • Author(s)
      Kaburaki T, Zhang Q, Jin X, Uchiyama M, Fujino Y, Nakahara H, Takamoto M, Otomo K, Niimi M
    • Journal Title

      Graefes Arch Clin Exp Ophthalmol

      Volume: 251(12) Pages: 2733-9

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
  • [Journal Article] Investigation of the association between Toll-like receptor 9 gene polymorphisms and sarcoidosis in Japanese patients2013

    • Author(s)
      Yotsumoto S, Meguro A, Ishihara M, Uemoto R, Ota M, Morimoto S, Kaburaki T, Ando Y, Takenaka S, Ohno S, Inoko H, Mizuki N
    • Journal Title

      Ocul Immunol Inflamm

      Volume: 21(3) Pages: 234-6

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
  • [Journal Article] Association of HLA-DRB1*15:02 and DRB5*01:02 allele with the susceptibility to systemic sclerosis in Thai patients2013

    • Author(s)
      Louthrenoo W, Kasitanon N, Wichainun R, Wangkaew S, Sukitawut W, Ohnogi Y, Nakaue N, Kuwata S, Takeuchi F
    • Journal Title

      Rheumatol Int

      Volume: 33(8) Pages: 2069-77

    • Related Report
      2013 Final Research Report
  • [Journal Article] Acute retinal necrosis: factors associated with anatomic and visual outcomes.2013

    • Author(s)
      Mizuki N
    • Journal Title

      Jpn J Ophthalmol

      Volume: 57 Issue: 1 Pages: 98-103

    • DOI

      10.1007/s10384-012-0211-y

    • NAID

      10031168363

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Common variants on chromosome 9p21 are associated with normal tension glaucoma2012

    • Author(s)
      Takamoto M, Kaburaki T, Mabuchi A, Araie M, Amano S, Aihara M, Tomidokoro A, Iwase A, Mabuchi F, Kashiwagi K, Shirato S, Yasuda N, Kawashima H, Nakajima F, Numaga J, Kawamura Y, Sasaki T, Tokunaga K
    • Journal Title

      PLoS One

      Volume: 7(7)

    • Related Report
      2013 Final Research Report
  • [Journal Article] Genetic characterization and susceptibility for sarcoidosis in Japanese patients : risk factors of BTNL2 gene polymorphisms and HLA class II alleles2012

    • Author(s)
      Suzuki H, Ota M, Meguro A, Katsuyama Y, Kawagoe T, Ishihara M, Asukata Y, Takeuchi M, Ito N, Shibuya E, Nomura E, Uemoto R, Nishide T, Namba K, Kitaichi N, Morimoto S, Kaburaki T, Ando Y, Takenaka S, Nakamura J, Saeki K, Ohno S, Inoko H, Mizuki N
    • Journal Title

      Invest Ophthalmol Vis Sci

      Volume: 53(11) Pages: 7109-15

    • Related Report
      2013 Final Research Report
  • [Journal Article] Multisynaptic inputs from the medial temporal lobe to V4 in macaques2012

    • Author(s)
      Ninomiya T, Sawamura H, et al.(他2名)
    • Journal Title

      PLoS One

      Volume: 7

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Segregated pathways carrying frontally derived top-down signals to visual areas MT and V4 in macaques2012

    • Author(s)
      Ninomiya T, Sawamura H, et al.(他2名)
    • Journal Title

      J Neurosci

      Volume: 32 Pages: 6851-6858

    • Related Report
      2013 Final Research Report
  • [Journal Article] Clinical background comparison of patients with and without ocular inflammatory attacks after initiation of infliximab therapy2012

    • Author(s)
      Yoshida A
    • Journal Title

      Jpn J Ophthalmol

      Volume: 56 Issue: 6 Pages: 536-543

    • DOI

      10.1007/s10384-012-0182-z

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Common variants on chromosome 9p21 are associated with normal tension glaucoma2012

    • Author(s)
      Takamoto M
    • Journal Title

      PLoS One

      Volume: 7 Issue: 7 Pages: e40107-e40107

    • DOI

      10.1371/journal.pone.0040107

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles2012

    • Author(s)
      Ota M, Meguro A, Kawagoe T, Mizuki N
    • Journal Title

      Invest Ophthalmol Vis Sci

      Volume: 53 Issue: 11 Pages: 7109-15

    • DOI

      10.1167/iovs.12-10491

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Toll-like receptor 2 (TLR2) gene polymorphisms are not associated with sarcoidosis in the Japanese population2011

    • Author(s)
      Sato M, Kawagoe T, Meguro A, Ota M, Katsuyama Y, Ishihara M, Namba K, Kitaichi N, Morimoto S, Kaburaki T, Ando Y, Takenaka S, Ohno S, Inoko H, Mizuki N
    • Journal Title

      Mol Vis

      Volume: 17 Pages: 731-6

    • Related Report
      2013 Final Research Report
  • [Journal Article] Common variation in GPC5 is associated with acquired nephrotic syndrome2011

    • Author(s)
      Okamoto K, Tokunaga K
    • Journal Title

      Nat Genet

      Volume: 43 Pages: 459-63

    • Related Report
      2013 Final Research Report
  • [Journal Article] Toll-like receptor 2 (TLR2) gene polymorphisms are not associated with sarcoidosis in the Japanese population.2011

    • Author(s)
      Sato M, Kawagoe T, Meguro A, Ota M, Katsuyama Y, Ishihara M, Namba K, Kitaichi N, Morimoto S, Kaburaki T, Ando Y, Takenaka S, Ohno S, Inoko H, Mizuki N
    • Journal Title

      Mol Vis. 17:731-6, 2011.

      Volume: 17 Pages: 731-736

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Success rates of trabeculotomy for steroid-induced glaucoma: a comparative, multicenter, retrospective cohort study2011

    • Author(s)
      Iwao K, Inatani M, Tanihara H; Japanese Steroid-Induced Glaucoma Multicenter Study Group.
    • Journal Title

      Am J Ophthalmol.

      Volume: 151 Pages: 1047-1056

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Case of metastatic pulmonary carcinoma in optic disc diagnosed from results of biopsy performed during vitrectomy surgery.2011

    • Author(s)
      Fukuda R, Tanabe T, Sawamura H, Kawata M, Tsuji H, Kaburaki T.
    • Journal Title

      Graefes Arch Clin Exp Ophthalmol.

      Volume: 249 Pages: 1883-1887

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Presentation] サブスペシャリティーサンデーぶどう膜炎の診断の進歩2013

    • Author(s)
      蕪城俊克
    • Organizer
      第117回日本眼科学会総会
    • Place of Presentation
      東京
    • Related Report
      2013 Final Research Report
  • [Presentation] Novel Scoring System of Ocular Disease Activity in Behcet's Disease2013

    • Author(s)
      Kaburaki T, Namba K, Sonoda K, Kezuka T, Keino H, Ito T and ocular Behçet disease research group of Japan
    • Organizer
      3^<rd> International ocular Behcet's Disease Study Group
    • Place of Presentation
      Kaohsiung, Taiwan
    • Related Report
      2013 Final Research Report
  • [Presentation] Intratracheal Administration of Interphotoreceptor Retinoid-Binding Protein Peptide Suppress Murine Experimental Autoimmune Uveitis2013

    • Author(s)
      Kaburaki T, Jing XY, Uchiyama M, Takamoto M, Nakahara H, Kawashima H, Amano S, Niimi M
    • Organizer
      2013 meeting of Association of research in Vision and Ophthalmology
    • Place of Presentation
      Seattle, USA
    • Related Report
      2013 Final Research Report
  • [Presentation] 「炎症性眼疾患における免疫抑制療法」非感染性ぶどう膜炎における治療戦略2013

    • Author(s)
      蕪城俊克
    • Organizer
      第47回日本眼炎症学会
    • Place of Presentation
      大阪
    • Related Report
      2013 Final Research Report
  • [Presentation] 感染性内眼炎における網膜血管炎の頻度2013

    • Author(s)
      小野久子、蕪城俊克、高本光子、大友一義、小前恵子、松田順子、冲永貴美子、沼賀二郎、藤野雄次郎
    • Organizer
      第47回日本眼炎症学会
    • Place of Presentation
      大阪
    • Related Report
      2013 Final Research Report
  • [Presentation] ランチョンセミナー「ぶどう膜炎の活動性定量化に向けた新たなる指標」BOS24を用いたインフリキシマブ前後のベーチェット病ぶどう膜炎の評価2013

    • Author(s)
      蕪城俊克
    • Organizer
      第47回日本眼炎症学会
    • Place of Presentation
      大阪
    • Related Report
      2013 Final Research Report
  • [Presentation] 新しいベーチェット病ぶどう膜炎の活動性スコアの評価の再現性の検討2013

    • Author(s)
      蕪城俊克、南場研一、園田康平、毛塚剛司、慶野博、福原崇子、鴨居功樹、中井慶
    • Organizer
      第47回日本眼炎症学会
    • Place of Presentation
      大阪
    • Related Report
      2013 Final Research Report
  • [Presentation] ぶどう膜炎の画像診断2013

    • Author(s)
      蕪城俊克
    • Organizer
      瀬戸内眼科コロシアム
    • Place of Presentation
      広島
    • Related Report
      2013 Annual Research Report 2013 Final Research Report
  • [Presentation] ベーチェット眼症研究グループ.ベーチェット病眼発作スコア24によるインフリキシマブ治療前後の疾患活動性の評価2013

    • Author(s)
      蕪城俊克、南場研一、園田康平、毛塚剛司、慶野博、福原崇子、鴨居功樹、中井慶、水木信久、大黒伸行
    • Organizer
      第67回日本臨床眼科学会
    • Place of Presentation
      横浜
    • Related Report
      2013 Final Research Report
  • [Presentation] ベーチェット病に対するインフリキシマブ治療における抗インフリキシマブ抗体の検討2013

    • Author(s)
      松田彩、蕪城俊克、田中理恵、大友一義、高本光子、小前恵子、松田順子、冲永貴美子、沼賀二郎、藤野雄次郎
    • Organizer
      第67回日本臨床眼科学会
    • Place of Presentation
      横浜
    • Related Report
      2013 Final Research Report
  • [Presentation] ぶどう膜炎の診断の進歩2013

    • Author(s)
      蕪城俊克
    • Organizer
      第117回日本眼科学会総会
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] Novel Scoring System of Ocular Disease Activity in Behcet’s Disease2013

    • Author(s)
      Kaburaki T, Namba K, Sonoda K, Kezuka T, Keino H, Ito T and ocular Behçet disease research group of Japan
    • Organizer
      3rd International ocular Behcet’s Disease Study Group
    • Place of Presentation
      Kaohsiung, Taiwan
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] Intratracheal Administration of Interphotoreceptor Retinoid-Binding Protein Peptide Suppress Murine Experimental Autoimmune Uveitis2013

    • Author(s)
      Kaburaki T, Jing XY, Uchiyama M, Takamoto M, Nakahara H, Kawashima H, Amano S, Niimi M
    • Organizer
      Association of research in Vision and Ophthalmology
    • Place of Presentation
      Seattle, USA
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] Changing frequency of uveitis in Tokyo area。2011

    • Author(s)
      Nakahara H, Kaburaki T, TakamotoM, Tanabe T, Yoshida A, Okinaga K, Ando K, Numaga J, Fujino Y
    • Organizer
      Association for Research in Vision and Ophthalmology
    • Place of Presentation
      Fort lauderdale, Florida, USA
    • Related Report
      2011 Research-status Report
  • [Presentation] Incidence of herpes virus-induced anterior uveitis complicated with intraocular pressure elevation.2011

    • Author(s)
      Okinaga K, Kaburaki T, Yoshida A, Takamoto M, Nakahara H, Kawashima H, Numaga J, Fujino Y, Araie M
    • Organizer
      Association for Research in Vision and Ophthalmology
    • Place of Presentation
      Fort lauderdale, Florida, USA
    • Related Report
      2011 Research-status Report
  • [Presentation] Effects of a Japanese herbal medicine saireito on murine experimental autoimmune uveitis.2011

    • Author(s)
      Kaburaki T, Zhang Q, Jin X, Uchiyama M, Takamoto M, Nakahara H, Okinaga K, Amano S, Niimi M
    • Organizer
      Association for Research in Vision and Ophthalmology
    • Place of Presentation
      Fort lauderdale, Florida, USA
    • Related Report
      2011 Research-status Report
  • [Presentation] Recent cases of ocular Behcet's disease in Japan.2011

    • Author(s)
      Kaburaki T, Takamoto M, Yoshida A, Nakahara H, Okinaga K, Tan J, Fujino Y, Numaga J, Kawashima H
    • Organizer
      International Ocular Inflammation Society (IOIS)(招待講演)
    • Place of Presentation
      Goa, India
    • Related Report
      2011 Research-status Report

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Published: 2011-08-05   Modified: 2019-07-29  

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