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2009 Fiscal Year Final Research Report

Establishment of the support system for SNP analyses and identification of disease-associated genes

Research Project

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Project/Area Number 17020003
Research Category

Grant-in-Aid for Scientific Research on Priority Areas

Allocation TypeSingle-year Grants
Review Section Biological Sciences
Research InstitutionThe University of Tokyo

Principal Investigator

TOKUNAGA Katusshi  The University of Tokyo, 大学院・医学系研究科, 教授 (40163977)

Co-Investigator(Kenkyū-buntansha) OHASHI Jun  筑波大学, 人間総合科学研究科, 准教授 (80301141)
MIYADERA Hiroko  東京大学, 大学院・医学系研究科, 助教 (40361464)
HONDA Makoto  (財)東京都医学研究機構, 東京都精神医学総合研究所, 副参与研究員(研究職) (50370979)
KEICHO Naoto  国立国際医療センター研究所, 呼吸器疾患研究部, 部長(研究職) (80332386)
Research Collaborator MIYAGAWA Yaku  東京大学, 大学院・医学系研究科, 助教 (20512263)
Project Period (FY) 2005 – 2009
Keywords疾患感受性遺伝子 / SNP / ゲノムワイド関連解析(GWAS) / 糖尿病 / ナルコレプシー / パニック障害 / 結核
Research Abstract

We established a high-throughput SNP typing system, and contributed to the finding of two new susceptibility genes to type 2 diabetes and genome-wide association studies (GWAS) for panic disorder, Alzheimer disease, multiple system atrophy, type 1 diabetes, etc. Furthermore, we identified two new susceptibility genes to narcolepsy by GWAS, and performed genome-wide linkage study and candidate gene analyses for tuberculosis and malaria.

  • Research Products

    (43 results)

All 2010 2009 2008 2007 2006 2005 Other

All Journal Article (26 results) (of which Peer Reviewed: 25 results) Book (7 results) Remarks (7 results) Patent(Industrial Property Rights) (3 results)

  • [Journal Article] Identification of KCNJ15 as a susceptibility gene in Asian patients with type 2 diabetes mellitus2010

    • Author(s)
      Okamoto K, Iwasaki N, Nishimura C, Doi K, Noiri E, Nakamura S, Takizawa M, Ogata M, Fujimaki R, Grarup N, Pisinger C, Borch-Johnsen K, Lauritzen T, Sandbaek A, Hansen T, Yasuda K, Osawa H, Nanjo K, Kadowaki T, Kasuga M, Pedersen, O, Fujita T, Kamatani N, Iwamoto Y, Tokunaga K
    • Journal Title

      Am. J. Hum. Genet. 86

      Pages: 54-64

    • Peer Reviewed
  • [Journal Article] Mapping Human Genetic Diversity in Asia2009

    • Author(s)
      The HUGO Pan-Asian SNP Consortium, Abdulla MA, Ahmed I, 他90名, 76番目Tokunaga K
    • Journal Title

      Science 326

      Pages: 1541-1545

    • Peer Reviewed
  • [Journal Article] Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C2009

    • Author(s)
      Tanaka Y, Nishida N, Sugiyama M, Kurosaki M, Matsuura K, Sakamoto N, Nakagawa M, Korenaga M, Hino K, Hige S, Ito Y, Mita E, Tanaka E, Mochida S, Murawaki Y, Honda M, Sakai A, Hiasa Y, Nishiguchi S, Koike A, Sakaida I, Imamura M, Ito K, Yano K, Masaki N, Sugauchi F, Izumi N, Tokunaga K, Mizokami M
    • Journal Title

      Nat. Genet. 41

      Pages: 1105-1109

    • Peer Reviewed
  • [Journal Article] Narcolepsy is strongly associated with the TCR alpha locus2009

    • Author(s)
      Hallmayer J, Faraco J, Ling L, 他45名、19番目Miyagawa T、42番目Tokunaga K
    • Journal Title

      Nat. Genet. 41

      Pages: 708-711

    • Peer Reviewed
  • [Journal Article] Construction of a prediction model for type 2 diabetes mellitus in the Japanese population based on eleven genes with strong evidence of the association2009

    • Author(s)
      Miyake K, Yang W, Hara K, 他32名、24番目Tokunaga K
    • Journal Title

      J. Hum. Genet. 54

      Pages: 236-241

    • Peer Reviewed
  • [Journal Article] Genome-wide association study of panic disorder in the Japanese population.2009

    • Author(s)
      Otowa T, Yoshida E, Sugaya N, Yasuda S, Nishimura Y, Inoue K, Tochigi M, Umekage T, Miyagawa T, Nishida N, Tokunaga K, Tanii H, Sasaki T, Kaiya H, Okazaki Y
    • Journal Title

      J. Hum. Genet. 54

      Pages: 122-126

    • Peer Reviewed
  • [Journal Article] Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype independently confer susceptibility to CNS hypersomnias (Essential Hyhpersomnia)2009

    • Author(s)
      Miyagawa T, Honda M, Kawashima M, Shimada M, Tanaka S, Honda Y, Tokunaga K.
    • Journal Title

      PLoS ONE 4

      Pages: e5394

    • Peer Reviewed
  • [Journal Article] IGFBP3 colocalizes with and regulates hypocretin(orexin)2009

    • Author(s)
      Honda M, Eriksson K, Zhang S, Tanaka S, Lin L, Salehi A, Helsla PE, Maehlen J, Gaus SE, Yanagisawa M, Sakurai T, Taheri S, Tsuchiya K, Honda Y, Mignot E.
    • Journal Title

      PLoS ONE 4

      Pages: e4254

    • Peer Reviewed
  • [Journal Article] Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the susceptibility to severe malaria2009

    • Author(s)
      Naka I, Nishida N, Patarapotikul J, Nuchnoi P, Tokunaga K, Hananantachai H, Tsuchiya N, Ohashi J
    • Journal Title

      Malaria Journal 8

      Pages: e232

    • Peer Reviewed
  • [Journal Article] Genome-wide SNP-based linkage analysis of tuberculosis in Thais2009

    • Author(s)
      Mahasirimongkol S, Yanai H, Nishida N, Ridruechai C, Matsushita I, Ohashi J, Summanapan S, Yamada N, Moolphate S, Chuchotaworn C, Chapraser A, Manosuthi W, Kantipong P, Kantiwaittaya S, Sura T, Khusmith S, Tokunaga K, Sawanpanyaleert P, Keicho N
    • Journal Title

      Genes Immun. 10

      Pages: 77-83

    • Peer Reviewed
  • [Journal Article] A Functional SNP in the CR1 Promoter Region Contributes to Protection against Cerebral Malaria.2008

    • Author(s)
      Teeranaipong P, Ohashi J, Patarapotikul J, Kimura R, Nuchnoi P, Hananantachai H, Naka I, Putaporntip C, Jongwutiwes S, Tokunaga K.
    • Journal Title

      J. Infect. Dis. 198

      Pages: 1880-1891

    • Peer Reviewed
  • [Journal Article] Variant between CPT1B and CHKB associated with susceptibility to narcolepsy2008

    • Author(s)
      Miyagawa T, Kawashima M, Nishida N, Ohashi J, Kimura R, Fujimoto A, Shimada M, Morishita S, Shigeta T, Lin L, Hong SC, Faraco J, Shin YK, Jeong JH, Okazaki Y, Tsuji S, Honda M, Honda Y, Mignot E, Tokunaga K
    • Journal Title

      Nat. Genet. 40

      Pages: 1324-1328

  • [Journal Article] Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus2008

    • Author(s)
      Yasuda K, Miyake K, Horikawa Y, Hara K, Osawa H, Furuta H, Hirota Y, Mori H, Jonsson A, Sato Y, Yamagata K, Hinokio Y, Wang HY, Tanahashi T, Nakamura N, Oka Y, Iwasaki N, Iwamoto Y, Yamada Y, Seino Y, Maegawa H, Kashiwagi A, Takeda J, Maeda E, Shin HD, Cho YM, Park KS, Lee HK, Ng MCY, Ma RCW, So WY,Chan JCN, Lyssenko V, Tuomi T, Nilsson P, Groop L, Kamatani N, Sekine A, Nakamura Y, Yamamoto K, Yoshida T, Tokunaga K, Itakura M, Makino H, Nanjo K, Kadowaki T, Kasuga M
    • Journal Title

      Nat. Genet. 40

      Pages: 1092-1097

    • Peer Reviewed
  • [Journal Article] Evaluating the performance of Affymetrix SNP Array 6. 0 platform with 400 Japanese individuals2008

    • Author(s)
      Nishida N, Koike A, Tajima A, Ogasawara Y, Ishibashi Y, Uehara Y, Inoue I, Tokunaga K
    • Journal Title

      BMC Genomics 9

      Pages: e431

    • Peer Reviewed
  • [Journal Article] A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness2008

    • Author(s)
      Fujimoto A, Kimura R, Ohashi J, Omi K, Yuliwulandari R, Batubara L, Mustofa MS, Samakkarn U, Settheetham-Ishida W, Ishida T, Morishita Y, Furusawa T, Nakazawa M, Ohtsuka R, Tokunaga K
    • Journal Title

      Hum. Mol. Genet. 17

      Pages: 835-843

    • Peer Reviewed
  • [Journal Article] Significant association between TIM1 promoter polymorphisms and protection against cerebral malaria in Thailand.2008

    • Author(s)
      Nuchnoi P, Ohashi J, Kimura R, Hananantachai H, Naka I, Krudsood S, Looareesuwan S, Tokunaga K, Patarapotikul J.
    • Journal Title

      Ann. Hum. Genet. 72

      Pages: 327-336

    • Peer Reviewed
  • [Journal Article] Association of TCF7L2 polymorphisms with susceptibility to type 2 diabetes in 4, 087 Japanese subjects2008

    • Author(s)
      Miyake K, Horikawa Y, Hara K, Yasuda K, Osawa H, Furuta H, Hirota Y, Yamagata K, Hinokio Y, Oka Y, Iwasaki N, Iwamoto Y, Yamada Y, Seino Y, Maegawa H, Kashiwagi A, Yamamoto K, Tokunaga K, Takeda J, Makino H, Nanjo K, Kadowaki T, Kasuga M
    • Journal Title

      J. Hum. Genet. 53

      Pages: 174-180

    • Peer Reviewed
  • [Journal Article] Significant association between TNF-a (TNF) promoter allele (-1031C, -863C, and -857C) and cerebral malaria in Thailand2007

    • Author(s)
      Hananantachai H, Patarapotikul J, Ohashi J, Naka I, Krudsood S, Looareesuwan S, Tokunaga K
    • Journal Title

      Tissue Antigens 69

      Pages: 277-280

    • Peer Reviewed
  • [Journal Article] Further development of multiplex SNP typing method, DigiTag2 assay2007

    • Author(s)
      Nishida N, Tanabe T, Takasu M, Suyama A, Tokunaga K
    • Journal Title

      Anal. Biochem. 364

      Pages: 78-85

    • Peer Reviewed
  • [Journal Article] Genome-wide association analysis of human narcolepsy and a new resistance gene2006

    • Author(s)
      Kawashima M, Tamiya G, Oka A, Hohjoh H, Juji T, Ebisawa T, Honda Y, Inoko H, Tokunaga K
    • Journal Title

      Am. J. Hum. Genet. 79

      Pages: 252-263

    • Peer Reviewed
  • [Journal Article] Hepatocyte nuclear factor-4{alpha} P2 promoter haplotypes are associated with type 2 diabetes in the Japanese population2006

    • Author(s)
      Hara K, Horikoshi M, Kitazato H, Ito C, Noda M, Ohashi J, Froguel P, Tokunaga K, Tobe K, Nagai R, Kadowaki T
    • Journal Title

      Diabetes 55

      Pages: 1260-1264

    • Peer Reviewed
  • [Journal Article] A SNP in the ABCC11 gene is the determinant of human earwax type2006

    • Author(s)
      Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko V, Alipov G, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano C, Ghandami M, Nomura M, Liang DS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kaneko A, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray J, Saito S, Nakamura Y, Niikawa N
    • Journal Title

      Nat. Genet. 38

      Pages: 324-330

    • Peer Reviewed
  • [Journal Article] A polymorphism In the AMPKα2 subunit gene is associated with insulin resistance and type 2 diabetes in the Japanese population2006

    • Author(s)
      Horikoshi M, Hara K, Ohashi J, Miyake K, Tokunaga K, Ito C, Kasuga M, Nagai R, Kadowaki T
    • Journal Title

      Diabetes 55

      Pages: 919-923

    • Peer Reviewed
  • [Journal Article] FcγRIIB lle232Thr transmembrane polymorphism associated with human systemic lupus erythematosus decreased affinity to lipid rafts and attenuates inhibitory effects on B cell receptor signaling2005

    • Author(s)
      Kono H, Kyogoku C, Suzuki T, Tsuchiya N, Honda H, Yamamoto K, Tokunaga K, Honda Z
    • Journal Title

      Hum. Mol. Genet. 14

      Pages: 2881-2892

    • Peer Reviewed
  • [Journal Article] Extensive polymorphisms of LILRB1 (ILT2, LIR1) and their association with HLA-DRB1 shared epitope negative rheumatoid arthritis.2005

    • Author(s)
      Kuroki K, Tsuchiya N, Shiroishi M, Rasubala L, Yamashita Y, Matsuta K, Fukazawa T, Kusaoi M, Murakami Y, Takiguchi M, Juji T, Hashimoto H, Kohda D, Maenaka K, Tokunaga K
    • Journal Title

      Hum. Mol. Genet. 14

      Pages: 2469-2480

    • Peer Reviewed
  • [Journal Article] Positional identification of an asthma susceptibility gene on human chromosome 5q332005

    • Author(s)
      Noguchi E, Yokouchi Y, Zhang J, Shibuya K, Shibuya A, Bannai M, Tokunaga K, Doi H, Tamari M, Shimizu M, Shirakawa T, Shibasaki M, Ichikawa K, Arinami T
    • Journal Title

      Am. J. Respir. Crit. Care Med. 172

      Pages: 183-188

    • Peer Reviewed
  • [Book] ヒトゲノムの多様性:ゲノムワイド多型研究のインパクト、実験医学(増刊)2009

    • Author(s)
      徳永勝士
    • Total Pages
      1917-1922
    • Publisher
      羊土社
  • [Book] ゲノムワイド関連分析による多因子疾患遺伝子の探索(肝疾患Review 2008-2009)2008

    • Author(s)
      西田奈央、徳永勝士
    • Total Pages
      85-91
  • [Book] 人類遺伝学ノート(徳永勝士編著)2007

    • Author(s)
      徳永勝士
    • Total Pages
      115
    • Publisher
      南山堂
  • [Book] 臨床ゲノム科学入門(永井良三(監)徳永勝士、山崎力、大木秀一(編), 遺伝子・ゲノム多型解析法の進展.)2007

    • Author(s)
      徳永勝士
    • Total Pages
      208-220
    • Publisher
      杏林図書
  • [Book] ゲノム情報と生命現象の統合的理解2007(榊佳之、伊藤隆司、辻省次、小原雄治(編), 大規模SNPタイピングによる多因子疾患遺伝子の探索, 実験医学増刊, 25(2))2007

    • Author(s)
      西田奈央、徳永勝士
    • Total Pages
      62-68
    • Publisher
      羊土社
  • [Book] 臨床生命情報学入門(永井良三(監)山崎力、小山博史、小野木雄三(編), 疾患の遺伝学)2006

    • Author(s)
      徳永勝士
    • Total Pages
      84-97
    • Publisher
      杏林図書
  • [Book] Single nucleotide polymorphism typing using degenerate-oligonucleotide-primed PCR- amplified products. In: Whole Genome Amplification(Ed. S. Hughes and R. Lasken)2005

    • Author(s)
      Bannai M, Tokunaga K
    • Total Pages
      11-21
    • Publisher
      Scion Publishing
  • [Remarks] やせ型糖尿病遺伝子の発見(2010年1月9日)NHKニュース、朝日新聞、読売新聞など各紙

  • [Remarks] アジア73集団のゲノムワイドSNP解析による多様性の研究(2009年12月11日)朝日新聞、読売新聞など各紙

  • [Remarks] C型肝炎治療効果に関わる遺伝子の発見(2009年9月14日)朝日新聞、日経新聞など

  • [Remarks] 日中の眠気に関わる(ナルコレプシー感受性)遺伝子の発見(2008年9月28日)読売新聞、毎日新聞など

  • [Remarks] 2型糖尿病に関わる遺伝子の発見(2008年8月25日)朝日新聞、読売新聞など各紙

  • [Remarks] 緑の黒髪(毛髪の太さに関わる)遺伝子の発見(2007年11月20日)朝日新聞など

  • [Remarks] 耳垢型を決定する遺伝子の発見(2006年1月30日)毎日新聞など

  • [Patent(Industrial Property Rights)] 糖尿病発症及び/又は進展リスクの判定方法2008

    • Inventor(s)
      徳永勝士, ほか4名
    • Industrial Property Rights Holder
      徳永勝士, ほか4名
    • Industrial Property Number
      特許特願2008-316595
    • Filing Date
      2008-12-12
  • [Patent(Industrial Property Rights)] 睡眠障害の治療及び診断方法2008

    • Inventor(s)
      徳永勝士, ほか3名
    • Industrial Property Rights Holder
      徳永勝士, ほか3名
    • Industrial Property Number
      特許特願2008-49530
    • Filing Date
      2008-02-29
  • [Patent(Industrial Property Rights)] 高血圧の遺伝子マーカー2005

    • Inventor(s)
      三木哲郎, ほか14名
    • Industrial Property Rights Holder
      三木哲郎, ほか14名
    • Industrial Property Number
      特許特願2005-344267
    • Filing Date
      2005-11-29

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Published: 2011-06-18   Modified: 2016-04-21  

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