Gain more insight, perform the following genome-wide association studies in Japanese, counterargument to the study that need correct re-diagnosis by Europe-an study

2012 Fiscal Year Final Research Report

• Project/Area Number: 23659160
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: General medical chemistry
• Research Institution: Kyoto Prefectural University of Medicine
• Principal Investigator: TASHIRO Kei 京都府立医科大学, 大学院・医学研究科, 教授 (10263097)
• Project Period (FY): 2011 – 2012
• Keywords: ゲノム医化学

Research Abstract

We examined our two data sets of the genome-wide association studies (GWAS) derived from a Japanese population was strictly classified as glaucoma and controls with detail examination and diagnosis. We performed a GWAS by analyzing 653,519 autosomal common single-nucleotide polymorphisms (SNPs) in 833 POAG patients and 686 controls. We then subdivided the case groups into two subtypes based on the value of intraocular pressure (IOP) -POAG with high IOP (high Pressure glaucoma, HPG) and that with normal IOP (normal pressure glaucoma, NPG) performed the GWAS. The results suggested that the variants from CDKN2B-AS1 locus were likely to be significant for NPG patients （PLoS ONE: 7: e33389, 2012）.On the other hand we performed a case-control study using 190 Japanese exfoliation glaucoma (XFG) patients and 660 controls．It is currently under consideration of replication study of the association to identify specific marker for XFG.

Research Products

• [Journal Article] Identification of a novel gene by whole human genome tiling array. (2013)
  • Author(s): Ishida, K., Yagi, T., Tanaka, M., Tokuda, Y., Kamoi, K., Hongo, F., Kawauchi, A., Nakano, M., Miki, T., Tashiro, K
  • Journal Title: Gene Volume: 1 Pages: 33-38
  • DOI: doi:10.1016/j.gene.2012.11.076.
  • Peer Reviewed
• [Journal Article] An approach to predict the risk of glaucoma development by integrating different attribute data (2012)
  • Author(s): Tokuda, Y., Yagi, T., Yoshii, K., Ikeda, Y., Fuwa, M., Ueno, M., Nakano, M., Omi, N., Tanaka, M., Mori, K., Kageyama, M. Nagasaki, I., Yagi, K., Kinoshita, S. and Tashiro, K.
  • Journal Title: SpringerPlus Volume: 1 Pages: 41
  • DOI: doi:10.1186/2193-1801-1-41
  • Peer Reviewed
• [Journal Article] Cerebrospinal fluid proteomic patterns discriminate Parkinson's diseases and multiple system atrophy (2012)
  • Author(s): Ishigami, N., Tokuda, T., Ikegawa, M., Komori, M., Kasai, T., Kondo, T., Matsuyama, Y., Nirasawa, T., Thiele, H., Tashiro, K., Nakagawa, M
  • Journal Title: Movement Disorders Volume: 27 Pages: 851-857
  • DOI: doi:10.1002/mds.24994
  • Peer Reviewed
• [Journal Article] Epistatic interaction between Toll-like receptor 3 (TLR3) and prostaglandin E receptor 3 (PTGER3) genes (2012)
  • Author(s): Ueta, M., Tamiya, G., Tokunaga, K., Sotozono, C., Ueki, M., Sawai, H., Inatomi, T., Matsuoka, T., Akira, S., Narumiya, S., Tashiro, K., Kinoshita, S.
  • Journal Title: J. Allergy Clin. Immunol. Volume: 129 Pages: 1413-1416
  • DOI: doi:10.1016/j.jaci.2012.01.069.
  • Peer Reviewed
• [Journal Article] Proteomic pattern analysis discriminates among multiple sclerosis-related disorders (2012)
  • Author(s): Komori, M Matsuyama, Y., Nirasawa, T., Thiele, H., Becker, M., Alexandrov, T., Saida, T., Tanaka, M., Matsuo, H., Tomimoto, H., Takahashi, R., Tashiro, K., Ikegawa, M., Kondo, T
  • Journal Title: Ann. Neurol Volume: 71 Pages: 614-623
  • DOI: doi:10.1002/ana.22633
  • Peer Reviewed
• [Journal Article] Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese (2012)
  • Author(s): Nakano, M., Ikeda, Y., Tokuda, Y., Fuwa, M., Omi, N., Ueno, M., Imai, K., Adchi, H., Kageyama, M., Mori, K., Kinoshita, S. and Tashiro, K
  • Journal Title: PLoS ONE Volume: 7 Pages: e233389
  • DOI: doi:10.1371/journal.pone.0033389
  • Peer Reviewed
• [Journal Article] Association studies getting broader: a commentary on 'A polymorphism of the POLG2 gene is genetically associated with the invasiveness of urinary bladder cancer in Japanese males' (2011)
  • Author(s): Nakano, M. and Tashiro, K
  • Journal Title: J. Hum. Genet. Volume: 56 Pages: 550-551
  • DOI: doi:10.1038/jhg.2011.70
  • Peer Reviewed
• [Journal Article] Cytokine storm arising on the ocular surface in a patient with Stevens-Johnson syndrome. (2011)
  • Author(s): Yagi, T., Sotozono, C., Fuwa, M., Ueta, M. Tashiro, K. and Kinoshita, S
  • Journal Title: Br. J. Ophthalmol. Volume: 95 Pages: 1030-1031
  • DOI: doi:10.1136/bjo.2010.196295.
  • Peer Reviewed
• [Presentation] Research for novel gene with HECT domain. HECT, ドメインを有する新規遺伝子の研究 (2012)
  • Author(s): 徳田雄市, 田中雅深, 石田博万, 八木知人, 三木恒治, 田代啓
  • Organizer: 第85回日本生化学会大会
  • Place of Presentation: 福岡
  • Year and Date: 20121214-16
• [Presentation] Analysis of Hematological and Biochemical Data in Primary Open‐Angle Glaucoma Patients (2012)
  • Author(s): Maruyama, Y., Mori, K., Yoshii, H., Yoshikawa, H., Ikeda, Y., Ueno, M., Tashiro, K., Kinoshita, S.
  • Organizer: Asia Pacific Glaucoma Congress
  • Place of Presentation: Bali,Indonesia
  • Year and Date: 20121207-09
• [Presentation] Common genetic variants of primary open-angle glaucoma in Japanese Population (2012)
  • Author(s): Nakano, M., Ikeda., Y, Tokuda, Y., Fuwa, M., Omi, N., Adachi, H., Ueno, M., Mori, K., Kinoshita, S. and Tahiro, K
  • Organizer: 62nd Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: San Francisco, USA
  • Year and Date: 20121106-10
• [Presentation] CDKN2B-AS1の病型別原発開放隅角緑内障全ゲノム関連解析 (2012)
  • Author(s): 池田陽子, 森 和彦, 上野盛夫, 今井浩二郎, 中野正和, 徳田雄市, 大見奈津江,佐藤隆一 , 田代啓 . 木下茂
  • Organizer: 第66回日本臨床眼科学会
  • Place of Presentation: 京都
  • Year and Date: 20121025-28
• [Presentation] 原発開放隅角緑内障の1000Kチップによる全ゲノム関連解析 (2012)
  • Author(s): 森 和彦, 池田陽子, 上野盛夫, 今井浩二郎, 中野正和, 徳田雄市, 佐藤隆一, 足立博子, 田代啓, 木下茂
  • Organizer: 第66回日本臨床眼科学会
  • Place of Presentation: 京都
  • Year and Date: 20121025-28
• [Presentation] The defects of Sfrp2 reveal modulating calcium signaling in lymphocytes. (2012)
  • Author(s): 徳田雄市, 田中雅深, 八木知人, 田代啓
  • Organizer: 第74回日本血液学会学術集会
  • Place of Presentation: 京都
  • Year and Date: 20121019-21
• [Presentation] 原発開放隅角緑内障患者における血液生化学データの解析 (2012)
  • Author(s): 吉井健吾, 池田陽子, 森 和彦, 上野盛夫, 丸山悠子, 吉川晴菜, 中野正和, 見奈津江, 徳田雄市, 田代啓, 木下 茂
  • Organizer: 第23回日本緑内障学会
  • Place of Presentation: 金沢
  • Year and Date: 20120928-30
• [Presentation] Association of risk alleles of glaucoma marker SNPs with morphological characters of the optic disc (2012)
  • Author(s): Ikeda, Y., Mori, K., Ueno, M., Imai, K., Nakano, M., Fuwa, M., Yoshii, K., Yagi, Y., Tokuda, Y., Tashiro, K. and Kinoshita, S.
  • Organizer: 10th Congress of the European Glaucoma Society. Copenhagen
  • Place of Presentation: Denmark
  • Year and Date: 20120608-22
• [Presentation] Genome-wide association study on primary open- angle glaucoma with a 1000K gene chip. (2012)
  • Author(s): Mori, K., Ikeda, Y., Ueno, M., Imai, K., Nakano, M., Tokuda, Y., Omi, N., Adachi, H., Tashiro, K. and Kinoshita, S.
  • Organizer: Annual Meeting of the Association for Research in Vision and Ophthalmology.
  • Place of Presentation: Florida, USA
  • Year and Date: 20120506-10
• [Presentation] Genome-wide association study on primary open-angle glaucoma with a 1000K gene chip. (2012)
  • Author(s): Mori, K., Ikeda, Y., Ueno, M., Imai, K., Nakano, M., Tokuda, Y., Omi, N., Adachi, H., Tashiro, K. and Kinoshita, S.
  • Organizer: Annual Meeting of the Association for Research in Vision and Ophthalmology
  • Place of Presentation: Florida, USA
  • Year and Date: 20120506-10
• [Presentation] 網膜における血管新生に関連する遺伝子の網羅的発現解析 (2012)
  • Author(s): 足立博子, 丸山悠子, 米田一仁, 丸山和一, 木下茂, 中野正和, 田代啓
  • Organizer: 第59回 日本生化学会近畿支部例会
  • Place of Presentation: 京都
  • Year and Date: 2012-05-19
• [Presentation] 正常者における緑内障疾患マーカーSNPと血液生化学データの関連性の検討 (2011)
  • Author(s): 池田陽子, 吉井健悟, 森和彦, 上野盛夫, 中野正和, 徳田雄市, 大見奈津江, 八木知人, 今井浩二郎, 田代啓, 木下茂
  • Organizer: 第22回日本緑内障学会
  • Place of Presentation: 秋田
  • Year and Date: 20110923-25
• [Presentation] DNAマイクロアレイを用いた新規遺伝子の探索 (2011)
  • Author(s): 徳田雄市, 田中雅深, 石田博万, 八木知人, 三木恒治, 田代 啓
  • Organizer: 第84回日本生化学会大会
  • Place of Presentation: 京都
  • Year and Date: 20110921-24
• [Presentation] Candidate gene analysis of primary open-angle glaucoma in a Japanese population using a custom chip (2011)
  • Author(s): Tashiro, K. and Kinoshita, S
  • Organizer: World Glaucoma Congress
  • Place of Presentation: Paris, France
  • Year and Date: 20110629-0702
• [Presentation] Association Between General Systematic Disease and the Marker Snps for Primary Open-Angle Glaucoma. (2011)
  • Author(s): Ikeda Y, Mori K, Ueno M, Imai K, Yagi T, Omi N, Tokuda Y, Fuwa M, Tashiro K,Kinoshita S
  • Organizer: World Glaucoma Congress
  • Place of Presentation: Paris, France
  • Year and Date: 20110629-0702
• [Presentation] DNAマイクロアレイ検査の将来展望 (2011)
  • Author(s): 田代啓, 池田陽子, 中野正和, 大見奈津江, 森和彦, 木下茂
  • Organizer: 遺伝医学合同学術集会2011
  • Place of Presentation: 京都
  • Year and Date: 20110616-19
• [Presentation] 原発開放隅角緑内障関連遺伝子に対するカスタムチップ解析 (2011)
  • Author(s): 池田陽子, 森和彦, 上野盛夫, 今井浩二郎, 不破正博, 中野正和, 谷口孝純, 徳田雄市, 大見奈津江, 八木知人, 田中雅深, 田代啓, 木下茂
  • Organizer: 原発開放隅角緑内障関連遺伝子に対するカスタムチップ解析
  • Place of Presentation: 東京
  • Year and Date: 20110512-15
• [Presentation] Candidate gene analysis of primary open-angle glaucoma in a Japanese population using a custom chip. (2011)
  • Author(s): Ikeda, Y., Mori, K., Ueno, M., Imai, K., Fuwa, M., Tokuda, Y., Nakano, M., Yagi, T., Tashiro, K. and Kinoshita, S
  • Organizer: Annual Meeting of the Association for Research in Vision and Ophthalmology
  • Place of Presentation: Florida, USA
  • Year and Date: 20110501-05
• [Presentation] 溶血法を用いたEBウイルス細胞株の簡易迅速樹立法の検討 (2011)
  • Author(s): 大見奈津江, 徳田雄市, 足立博子, 池田陽子, 上野盛夫, 森和彦, 中野正和, 木下茂, 田代啓.
  • Organizer: 溶血法を用いたEBウイルス細胞株の簡易迅速樹立法の検討
  • Place of Presentation: 大阪
  • Year and Date: 2011-05-21
• [Book] 緑内障の検査診断学 (2011)
  • Author(s): 池田陽子, 中野正和, 田代啓, 森和彦, 木下茂
  • Total Pages: 207-220
  • Publisher: 3. 遺伝子診断, 眼科