Genetic analysis of sarcoidosis in a multi-ethnic cohort

• Project/Area Number: 24790338
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Human genetics
• Research Institution: Yokohama City University
• Principal Investigator: MEGURO Akira 横浜市立大学, 医学(系)研究科(研究院), 特任講師 (60508802)
• Project Period (FY): 2012-04-01 – 2014-03-31
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2012: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
• Keywords: サルコイドーシス / 遺伝子

Research Abstract

Sarcoidosis is a chronic multi-systemic inflammatory disorder. In this study, to identify susceptibity genes of sarcoidosis, we performed a genome-wide association study of sarcoidosis using Japanese and Czech populations. This study identified a genetic region showing a genome-wide significance (P<5E-8).

Research Products

• [Journal Article] Trabeculotomy ab interno with internal limiting membrane forceps for open-angle glaucoma. (2014)
  • Author(s): Nakasato H, Uemoto R, Isozaki M, Meguro A, Kawagoe T, Mizuki N
  • Journal Title: Graefes Arch Clin Exp Ophthalmol Volume: 252(6) Issue: 6 Pages: 977-982
  • DOI: 10.1007/s00417-014-2616-4
  • Peer Reviewed
• [Journal Article] Treatment of symptomatic inferior conjunctivochalasis by ligation. (2014)
  • Author(s): Nakasato H, Uemoto R, Meguro A, Kawagoe T, Hatano H, Mizuki N
  • Journal Title: Acta Ophthalmol Volume: 印刷中 Issue: 5
  • DOI: 10.1111/aos.12349
  • Peer Reviewed
• [Journal Article] Trabeculotomy ab interno with internal limiting membrane forceps for open-angle glaucoma. (2014)
  • Author(s): Nakasato H, Uemoto R, Isozaki M, Meguro A, Kawagoe T, Mizuki N
  • Journal Title: Graefes Arch Clin Exp Ophthalmol Volume: 印刷中
  • Peer Reviewed
• [Journal Article] Association study of fibroblast growth factor 10 (FGF10) polymorphisms with susceptibility to extreme myopia in a Japanese population (2013)
  • Author(s): ③Yoshida M, Meguro A, Okada E, Nomura N, Mizuki N
  • Journal Title: Mol Vis Volume: 19 Pages: 2321-2329
  • URL: http://www.molvis.org/molvis/v19/2321/mv-v19-2321.pdf
  • Peer Reviewed
• [Journal Article] Association study of IGF1 polymorphisms with susceptibility to high myopia in a Japanese population. (2013)
  • Author(s): Yoshida M, Meguro A, Yoshino A, Nomura N, Okada E, Mizuki N
  • Journal Title: Clin Ophthalmol Volume: 7 Pages: 2057-2062
  • DOI: 10.2147/opth.s52726
  • Peer Reviewed
• [Journal Article] Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. (2013)
  • Author(s): Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Meguro A, Mizuki N, et al
  • Journal Title: Am J Hum Genet Volume: 93(2) Issue: 2 Pages: 264-277
  • DOI: 10.1016/j.ajhg.2013.06.016
  • Peer Reviewed
• [Journal Article] Dogs and humans share a common susceptibility gene SRBD1 for glaucoma risk. (2013)
  • Author(s): Kanemaki N, Tchedre KT, Imayasu M, Kawarai S, Sakaguchi M, Yoshino A, Itoh N, Meguro A, Mizuki N
  • Journal Title: PLoS One Volume: 8(9) Issue: 9 Pages: e74372-e74372
  • DOI: 10.1371/journal.pone.0074372
  • Peer Reviewed
• [Journal Article] Association study of genetic variants on chromosome 7q31 with susceptibility to normal tension glaucoma in a Japanese population (2013)
  • Author(s): Meguro A, Mizuki N(他28名)
  • Journal Title: Eye (Lond) Volume: 27(8) Issue: 8 Pages: 979-983
  • DOI: 10.1038/eye.2013.123
  • Peer Reviewed
• [Journal Article] Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease. (2013)
  • Author(s): Kirino Y, Zhou Q, Ishigatsubo Y, Mizuki N, Tugal-Tutkun I, Seyahi E, Özyazgan Y, Ugurlu S, Erer B, Abaci N, Ustek D, Meguro A, Ueda A, Takeno M, Inoko H, Ombrello MJ, Satorius CL, Maskeri B, Mullikin JC, Sun HW, et al
  • Journal Title: Proc Natl Acad Sci U S A Volume: 110(20) Issue: 20 Pages: 8134-8139
  • DOI: 10.1073/pnas.1306352110
  • Peer Reviewed
• [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) Issue: 3 Pages: 234-236
  • DOI: 10.3109/09273948.2012.756114
  • Peer Reviewed
• [Journal Article] Interleukin 1 beta promoter polymorphism is associated with keratoconus in a Japanese population (2013)
  • Author(s): ⑩Mikami T, Meguro A, Teshigawara T, Takeuchi M, Uemoto R, Kawagoe T, Nomura E, Asukata Y, Ishioka M, Iwasaki M, Fukagawa K, Konomi K, Shimazaki J, Nishida T, Mizuki N
  • Journal Title: Mol Vis Volume: 19 Pages: 845-851
  • URL: http://www.molvis.org/molvis/v19/845/mv-v19-845.pdf
  • Peer Reviewed
• [Journal Article] Modification of Swan - Jacobs lens for iridocorneal angle surgery (2013)
  • Author(s): ⑫Nakasato,. Sonn H, Uemoto R, Meguro A, Mizuki N
  • Journal Title: Graefes Arch Clin Exp Ophthalmol Volume: 251(9) Issue: 9 Pages: 2247-2248
  • DOI: 10.1007/s00417-012-2232-0
  • Peer Reviewed
• [Journal Article] Staining internal limiting membrane with a mixture of BBG and sodium hyaluronate (2013)
  • Author(s): Meguro A, Mizuki N
  • Journal Title: Br J Ophthalmol Volume: 97 Issue: 6 Pages: 690-3
  • DOI: 10.1136/bjophthalmol-2012-302289
  • Peer Reviewed
• [Journal Article] Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease (2013)
  • Author(s): Meguro A, Mizuki N(他18名)
  • Journal Title: Ann Rheum Dis Volume: 72(9) Issue: 9 Pages: 1510-1516
  • DOI: 10.1136/annrheumdis-2011-200288
  • Peer Reviewed
• [Journal Article] Association study of fibroblast growth factor 10 (FGF10) polymorphisms with susceptibility to extreme myopia in a Japanese population. (2013)
  • Author(s): Yoshida M, Meguro A, Okada E, Nomura N, Mizuki N
  • Journal Title: Mol Vis Volume: 19 Pages: 2321-2329
  • Peer Reviewed
• [Journal Article] Interleukin 1 beta promoter polymorphism is associated with keratoconus in a Japanese population. (2013)
  • Author(s): Mikami T, Meguro A, Teshigawara T, Takeuchi M, Uemoto R, Kawagoe T, Nomura E, Asukata Y, Ishioka M, Iwasaki M, Fukagawa K, Konomi K, Shimazaki J, Nishida T, Mizuki N
  • Journal Title: Mol Vis Volume: 19 Pages: 845-851
  • Peer Reviewed
• [Journal Article] Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease. (2013)
  • Author(s): Kirino Y
  • Journal Title: Proceedings of the National Academy of Sciences of the United States of America Volume: 印刷中
  • Peer Reviewed
• [Journal Article] Investigation of the Association Between Toll-like Receptor 9 Gene Polymorphisms and Sarcoidosis in Japanese Patients. (2013)
  • Author(s): Yotsumoto S
  • Journal Title: Ocular Immunology and Inflammation Volume: 印刷中
  • Peer Reviewed
• [Journal Article] Interleukin 1 beta promoter polymorphism is associated with keratoconus in a Japanese population. (2013)
  • Author(s): Mikami T
  • Journal Title: Molecular Vision Volume: 19 Pages: 845-851
  • Peer Reviewed
• [Journal Article] Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease. (2013)
  • Author(s): Lee YJ
  • Journal Title: Annals of the Rheumatic Diseases Volume: 印刷中
  • Peer Reviewed
• [Journal Article] Genome-wide association analysis identifies new susceptibility loci for Behcet's disease and epistasis between HLA-B*51 and ERAP1 (2012)
  • Author(s): Mizuki N, Meguro A
  • Journal Title: Nat Genet Volume: 45 Issue: 2 Pages: 202-7
  • DOI: 10.1038/ng.2520
  • 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] Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina (2012)
  • Author(s): Meguro A, Ota M, Kawagoe T, Mizuki N
  • Journal Title: PLoS One Volume: 7 Issue: 6 Pages: e39300-e39300
  • DOI: 10.1371/journal.pone.0039300
  • Peer Reviewed
• [Journal Article] Genetic variants on chromosome 1q41 influence ocular axial length and high myopia (2012)
  • Author(s): Meguro A, Mizuki N
  • Journal Title: PLoS Genet Volume: 8 Issue: 6 Pages: e1002753-e1002753
  • DOI: 10.1371/journal.pgen.1002753
  • Peer Reviewed
• [Journal Article] Lack of association between IL10 polymorphisms and sarcoidosis in Japanese patients (2012)
  • Author(s): Meguro A, 他16名
  • Journal Title: Mol Vis Volume: 18 Pages: 512-518
  • URL: http://www.molvis.org/molvis/v18/a56/mv-v18-a56-sakuyama.pdf
  • Peer Reviewed
• [Journal Article] Confirmation of TBK1 duplication in normal tension glaucoma (2012)
  • Author(s): Kawase K, et al
  • Journal Title: Experimental Eye Research Volume: 96 Issue: 1 Pages: 178-180
  • DOI: 10.1016/j.exer.2011.12.021
  • Peer Reviewed
• [Journal Article] Factors associated with enlargement of chorioretinal atrophy after intravitreal bevacizumab for myopic choroidal neovascularization (2012)
  • Author(s): Uemoto R, et al
  • Journal Title: Graefe's Archive for Clinical and Experimental Ophthalmology Volume: (印刷中) Issue: 7 Pages: 989-97
  • DOI: 10.1007/s00417-011-1921-4
  • Peer Reviewed
• [Journal Article] Replication of a microsatellite genome-wide association study of Behcet's disease in a Korean population (2012)
  • Author(s): Horie Y, et al
  • Journal Title: Rheumatology Volume: (印刷中) Issue: 6 Pages: 983-6
  • DOI: 10.1093/rheumatology/ker444
  • Peer Reviewed
• [Journal Article] Anatomical and functional changes of retina following subretinal injection of high-speed fluid (2012)
  • Author(s): Uemoto R, et al
  • Journal Title: Graefe's Archive for Clinical and Experimental Ophthalmology Volume: 250 Issue: 3 Pages: 447-450
  • DOI: 10.1007/s00417-011-1800-z
  • Peer Reviewed
• [Journal Article] Behcet病(ベーチェット病)眼病変診療ガイドライン (2012)
  • Author(s): 大野重昭、蕪城俊克、北市伸義、後藤浩、南場研一、水木信久、飛鳥田有里、坂本俊哉、渋谷悦子、藤野雄次郎、目黒明、横井克俊
  • Journal Title: 日本眼科學会雜誌 Volume: 116(4) Pages: 394-426
  • NAID: 10030548603
  • URL: http://www.nichigan.or.jp/member/guideline/behcet.jsp
  • Peer Reviewed
• [Journal Article] Lack of association between IL10 polymorphisms and sarcoidosis in Japanese patients. (2012)
  • Author(s): Sakuyama K
  • Journal Title: Molecular Vision Volume: 18 Pages: 512-518
  • Peer Reviewed
• [Presentation] Association analysis of HLA-DRB1 alleles with the development and clinical manifestations of sarcoidosis in a large Japanese cohort (2014)
  • Author(s): Meguro A, Ishihara M, Ota M, Inoko H, Ohno S, Mizuki N
  • Organizer: 12th International Ocular Inflammation Society Congress(第12回国際眼炎症学会)
  • Place of Presentation: スペイン・バレンシア
• [Presentation] Association study of IL23R-IL12RB2 and IL10 gene polymorphisms with susceptibility to Vogt - Koyanagi - Harada disease in a Japanese population (2013)
  • Author(s): Meguro A, Kawagoe T, Nakahara M, Fukasaku H, Ohno S, Mizuki N
  • Organizer: ARVO 2013 Annual Meeting(アメリカ視覚眼科学研究協会会議2013)
  • Place of Presentation: アメリカ・シアトル
  • Year and Date: 2013-05-09
• [Presentation] 第117回日本眼科学会総会 (2013)
  • Author(s): 目黒明
  • Organizer: 第117回日本眼科学会総会
  • Place of Presentation: 東京
  • Year and Date: 2013-04-05
• [Presentation] サルコイドーシスのゲノムワイド関連解析 (2012)
  • Author(s): 目黒明
  • Organizer: 第66回日本臨床眼科学会
  • Place of Presentation: 京都
  • Year and Date: 2012-10-26
• [Presentation] サルコイドーシスのゲノムワイド関連解析 (2012)
  • Author(s): 目黒明、石原麻美、南場研一、蕪城俊克、高瀬博、後藤浩、大野重昭、望月學、水木信久
  • Organizer: 第46回日本眼炎症学会
  • Place of Presentation: 横浜
  • Year and Date: 2012-07-15
• [Presentation] Investigation of the association between COL2A1 gene variants and lattice degeneration of the retina (2012)
  • Author(s): Meguro A, Ideta H, Ideta R, Inoko H, Mizuki N
  • Organizer: ARVO 2012 Annual Meeting(アメリカ視覚眼科学研究協会会議2012)
  • Place of Presentation: アメリカ・フォートローダーデール
  • Year and Date: 2012-05-06
• [Presentation] 眼炎症性疾患の分子遺伝学的解析 (2012)
  • Author(s): 目黒明
  • Organizer: 第116回日本眼科学会総会
  • Place of Presentation: 東京
  • Year and Date: 2012-04-06
• [Presentation] サルコイドーシスのゲノムワイド関連解析 (2012)
  • Author(s): 目黒 明
  • Organizer: 第66回日本臨床眼科学会
  • Place of Presentation: 国立京都国際会館（京都府）
• [Presentation] 眼炎症性疾患の分子遺伝学的解析 (2012)
  • Author(s): 目黒 明
  • Organizer: 第116回日本眼科学会総会
  • Place of Presentation: 東京国際フォーラム（東京都）
• [Book] Behcet's syndrome according to classical and population genetics. Behcet's syndrome From pathogenesis to treatment of a rare disease (2014)
  • Author(s): Meguro A, Mizuki N, Gul A, Kitaichi N, Ohno S
  • Publisher: Springer
• [Book] ぶどう膜炎ベーチェット病、サルコイドーシス、原田病, Retina Medicine (2014)
  • Author(s): 目黒明、水木信久
  • Publisher: 先端医学社
• [Book] ぶどう膜炎と遺伝的背景.眼科 (2014)
  • Author(s): 目黒明、木村育子
  • Publisher: 金原出版
• [Book] ベーチェット病の遺伝因子, 炎症と免疫 (2013)
  • Author(s): 目黒明、猪子英俊
  • Publisher: 先端医学社
• [Book] 緑内障のゲノムワイド関連解析, 日本の眼科 (2013)
  • Author(s): 目黒明、水木信久
  • Publisher: 日本眼科医会