Study of susceptible gene for optic neuritis

• Project/Area Number: 23592554
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: The 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: ¥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.

Research Products

• [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 infliximab (2014)
  • 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
• [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
  • Peer Reviewed / Open Access
• [Journal Article] Effects of Japanese herbal medicine Sairei-to on murine experimental autoimmune uveitis (2013)
  • 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
• [Journal Article] Investigation of the association between Toll-like receptor 9 gene polymorphisms and sarcoidosis in Japanese patients (2013)
  • 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
• [Journal Article] Association of HLA-DRB1*15:02 and DRB5*01:02 allele with the susceptibility to systemic sclerosis in Thai patients (2013)
  • 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
• [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
  • Peer Reviewed
• [Journal Article] Common variants on chromosome 9p21 are associated with normal tension glaucoma (2012)
  • 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)
• [Journal Article] Genetic characterization and susceptibility for sarcoidosis in Japanese patients : risk factors of BTNL2 gene polymorphisms and HLA class II alleles (2012)
  • 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
• [Journal Article] Multisynaptic inputs from the medial temporal lobe to V4 in macaques (2012)
  • Author(s): Ninomiya T, Sawamura H, et al.(他2名)
  • Journal Title: PLoS One Volume: 7
  • Peer Reviewed
• [Journal Article] Segregated pathways carrying frontally derived top-down signals to visual areas MT and V4 in macaques (2012)
  • Author(s): Ninomiya T, Sawamura H, et al.(他2名)
  • Journal Title: J Neurosci Volume: 32 Pages: 6851-6858
• [Journal Article] Clinical background comparison of patients with and without ocular inflammatory attacks after initiation of infliximab therapy (2012)
  • Author(s): Yoshida A
  • Journal Title: Jpn J Ophthalmol Volume: 56 Issue: 6 Pages: 536-543
  • DOI: 10.1007/s10384-012-0182-z
  • Peer Reviewed
• [Journal Article] Common variants on chromosome 9p21 are associated with normal tension glaucoma (2012)
  • Author(s): Takamoto M
  • Journal Title: PLoS One Volume: 7 Issue: 7 Pages: e40107-e40107
  • DOI: 10.1371/journal.pone.0040107
  • Peer Reviewed
• [Journal Article] Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles (2012)
  • 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
  • Peer Reviewed
• [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 Volume: 17 Pages: 731-6
• [Journal Article] Common variation in GPC5 is associated with acquired nephrotic syndrome (2011)
  • Author(s): Okamoto K, Tokunaga K
  • Journal Title: Nat Genet Volume: 43 Pages: 459-63
• [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
  • Peer Reviewed
• [Journal Article] Success rates of trabeculotomy for steroid-induced glaucoma: a comparative, multicenter, retrospective cohort study (2011)
  • 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
  • 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
  • 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
• [Presentation] Novel Scoring System of Ocular Disease Activity in Behcet's Disease (2013)
  • 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
• [Presentation] Intratracheal Administration of Interphotoreceptor Retinoid-Binding Protein Peptide Suppress Murine Experimental Autoimmune Uveitis (2013)
  • 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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
  • Invited
• [Presentation] Novel Scoring System of Ocular Disease Activity in Behcet’s Disease (2013)
  • 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
  • Invited
• [Presentation] Intratracheal Administration of Interphotoreceptor Retinoid-Binding Protein Peptide Suppress Murine Experimental Autoimmune Uveitis (2013)
  • 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
  • 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
• [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
• [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
• [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