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Large scale GWAS and exome analyses of intracranial aneurysms

Research Project

Project/Area Number 22241049
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Medical genome science
Research InstitutionNational Institute of Genetics

Principal Investigator

INOUE Ituro  国立遺伝学研究所, 総合遺伝研究系, 教授 (00192500)

Co-Investigator(Kenkyū-buntansha) YOSHIDA Kenichi  明治大学, 農学部・生命科学科, 准教授 (20345036)
TAJIMA Atsushi  徳島大学, 大学院・ヘルスバイオサイエンス研究部・人類遺伝学分野, 准教授 (10396864)
Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥39,910,000 (Direct Cost: ¥30,700,000、Indirect Cost: ¥9,210,000)
Fiscal Year 2012: ¥8,840,000 (Direct Cost: ¥6,800,000、Indirect Cost: ¥2,040,000)
Fiscal Year 2011: ¥8,840,000 (Direct Cost: ¥6,800,000、Indirect Cost: ¥2,040,000)
Fiscal Year 2010: ¥22,230,000 (Direct Cost: ¥17,100,000、Indirect Cost: ¥5,130,000)
Keywords脳動脈瘤 / ゲノム全域 / アソシエーション・スタディ
Research Abstract

Genome-wide association study for intracranial aneurysm was performed and identified four loci with strong statistical values. Among them, we next focused on 9p21 region, which is also associated with many phenotypes including cardiac infarction. About 250 Mb region was sequenced by next generation sequencers and several SNPs were identified with strong statistical significance. We also performed exome analyses to identify rare variants that explain the pathogenesis of IA in some patients.

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (30 results)

All 2013 2012 2011 2010

All Journal Article (28 results) (of which Peer Reviewed: 25 results) Book (2 results)

  • [Journal Article] Detection of ancestry informative HLA alleles confirms the admixed origins of Japanese population.2013

    • Author(s)
      Nakaoka H, Mitsunaga S, Hosomichi K, Shyh-Yuh L, Sawamoto T, Fujiwara T, Tsutsui N, Suematsu K, Shinagawa A, Inoko H, Inoue I.
    • Journal Title

      PLoS One.

      Volume: 8 Issue: 4 Pages: e60793-e60793

    • DOI

      10.1371/journal.pone.0060793

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Improved loop-mediated isothermal amplification for HLA-DRB1 genotyping using RecA and a restriction enzyme for enhanced amplification specificity2013

    • Author(s)
      Mitsunaga S, Shimizu S, Okudaira Y, Oka A, Tanaka M, Kimura M, Kulski JK, Inoue I, Inoko H
    • Journal Title

      Immunogenet

      Volume: 65(6) Issue: 6 Pages: 405-415

    • DOI

      10.1007/s00251-013-0690-0

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] ゲノム多様性の形成と維持2013

    • Author(s)
      井ノ上 逸朗
    • Journal Title

      細胞

      Volume: 45 Pages: 112-115

    • Related Report
      2012 Annual Research Report
  • [Journal Article] Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders2012

    • Author(s)
      Rabbani B, Mahdieh N, Hosomichi K, Nakaoka H, Inoue I
    • Journal Title

      J Hum Genet

      Volume: 57 Pages: 621-632

    • NAID

      10031122239

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Meta-analysis of microarray gene expression studies on intracranial aneurysms2012

    • Author(s)
      Roder C, Kasuya H, Tatagiba M, Inoue I, Krischek B
    • Journal Title

      Neuroscience

      Volume: 201 Pages: 105-113

    • Related Report
      2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Meta-analysis of microarray gene expression studies on intracranial aneurysms.2012

    • Author(s)
      Roder C, et al.
    • Journal Title

      Neuroscience

      Volume: 201 Pages: 105-113

    • DOI

      10.1016/j.neuroscience.2011.10.033

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.2012

    • Author(s)
      Rabbani B, et al.
    • Journal Title

      Journal of Human Genetics

      Volume: 57 Issue: 10 Pages: 621-632

    • DOI

      10.1038/jhg.2012.91

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 脳外科疾患の遺伝子解析2012

    • Author(s)
      井ノ上 逸朗
    • Journal Title

      Current Insights in Neurological Science

      Volume: 19, 20 Pages: 25-27

    • Related Report
      2012 Annual Research Report
  • [Journal Article] 次世代シーケンサーの臨床応用2012

    • Author(s)
      井ノ上 逸朗
    • Journal Title

      Medical Technology

      Volume: 40 Pages: 1551-1551

    • Related Report
      2012 Annual Research Report
  • [Journal Article] Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk2011

    • Author(s)
      Yasuno K, Bakircioglu M, Low SK, Bilguvar K, Gaal E, Ruigrok YM, Niemela M, Hata A, Bijlenga P, Kasuya H, Jaaskelainen JE, Krex D, Auburger G, Simon M, Krischek B, Ozturk AK, Mane S, Rinkel GJ, Steinmetz H, Hernessnieml J, Schaller K, Zenbutu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Gunel M.
    • Journal Title

      Proc Natl Acad Sci

      Volume: 108 Issue: 49 Pages: 19707-19712

    • DOI

      10.1073/pnas.1117137108

    • Related Report
      2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A Systems Genetics Approach Provides a Bridge from Discovered Genetic Variants to Biological Pathways in Rheumatoid Arthritis2011

    • Author(s)
      Nakaoka Hirofumi; Cui Tailin; Tajima Atsushi, et al
    • Journal Title

      PLOS ONE

      Volume: 6:9 Issue: 9 Pages: e25389-e25389

    • DOI

      10.1371/journal.pone.0025389

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Particular human leukocyte antigen alleles are associated with biochemical traits in the Japanese population2011

    • Author(s)
      Mitsunaga Shigeki; Homma Yasuhiko; Narita Akira, et al
    • Journal Title

      HUMAN IMMUNOLOGY

      Volume: 72:7 Issue: 7 Pages: 566-570

    • DOI

      10.1016/j.humimm.2011.03.011

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Exome resequencing combined with linkage analysis identifies novel PTH1R variants in a primary failure of tooth eruption in Japanese2011

    • Author(s)
      Yamaguchi T, Hosomichi K, Narita A, Shirota T, Tomoyasu Y, Maki K, Inoue I.
    • Journal Title

      J Bone Miner Res

      Volume: 26 Pages: 1655-1661

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Germline Copy Number Variations in BRCA1-Associated Ovarian Cancer Patients2011

    • Author(s)
      K.Yoshihara, K Tanaka, 他7名
    • Journal Title

      Genes, Chromosomes and Cancer

      Volume: 50 Issue: 3 Pages: 167-177

    • DOI

      10.1002/gcc.20841

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Exome resequencing combined with linkage analysis identifies novel PTH1R variants in a primary failure of tooth eruption in Japanese2011

    • Author(s)
      Yamaguchi T, et al.
    • Journal Title

      J Bone Miner Res

      Volume: (in press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] IFN-γ and TNF-α synergistically induce microRNA-155 which regulates TAB2/IP-10 expression in human mesangial cells2010

    • Author(s)
      Imaizumi T, Tanaka H, Tajima A, Yokono Y, Matsumiya T, Yoshida H, Tsuruga K, Aizawa-Yashiro T, Hayakari R, Inoue I, Ito E, Satoh K
    • Journal Title

      Am J Nephrol

      Volume: 32 Issue: 5 Pages: 462-468

    • DOI

      10.1159/000321365

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] TRIM39 and RNF39 are associated with Behcet's disease independently of HLA-B*51 and ?A*262010

    • Author(s)
      Kurata R, Nakaoka H, Tajima A, Hosomichi K, Shiina T, Meguro A, Mizuki N, Ohono S, Inoue I, InokoH
    • Journal Title

      Biochem Biophys Res Commun

      Volume: 401 Issue: 4 Pages: 533-537

    • DOI

      10.1016/j.bbrc.2010.09.088

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Genetics of Moyamoya disease2010

    • Author(s)
      Roder C, Nayak NR, Khan N, Tatagiba M, Inoue I, Krischek B.
    • Journal Title

      Hum Genet

      Volume: 55 Issue: 11 Pages: 711-716

    • DOI

      10.1038/jhg.2010.103

    • NAID

      10030737392

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Genome wide association analysis of copy number variation in subarachnoid aneurismal hemorrhage2010

    • Author(s)
      Cui T, Inoue I, Shin HD
    • Journal Title

      J Hum Genet

      Volume: 55 Issue: 11 Pages: 726-730

    • DOI

      10.1038/jhg.2010.97

    • Related Report
      2012 Final Research Report 2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms2010

    • Author(s)
      Akiyama K, Narita A, Nakaoka H, Cui T, Takahashi T, Yasuno K, Tajima A, Krischek B, Yamamoto K, Kasuya H, Hata A, Inoue I
    • Journal Title

      J Hum Genet

      Volume: 55 Issue: 10 Pages: 656-661

    • DOI

      10.1038/jhg.2010.82

    • NAID

      10030737125

    • Related Report
      2012 Final Research Report 2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] ANRIL is implicated in the regulation of nucleus and potential transcriptional target of E2F12010

    • Author(s)
      Sato K, Nakagawa H, Tajima A, Yoshida K, Inoue I
    • Journal Title

      Oncology Rep

      Volume: 24 Issue: 3 Pages: 701-707

    • DOI

      10.3892/or_00000910

    • Related Report
      2012 Final Research Report 2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Differential Effects of chromosome 9p21 variation on subphenotypes of intracranial aneurysm: site distribution2010

    • Author(s)
      Nakaoka H, Takahashi T, Akiyama K, Cui T, Tajima A, Krischek B, Kasuya H, Hata A, Inoue I
    • Journal Title

      Stroke

      Volume: 41 Issue: 8 Pages: 1593-1598

    • DOI

      10.1161/strokeaha.110.586529

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Association of the Jun dimerization protein 2 gene with intracranial aneurysms in Japanese and Korean cohorts as compared to a Dutch cohort2010

    • Author(s)
      Krischek B, Tajima A, Akagawa H, Narita A, Ruigrok Y, Rinkel G, Wijmenga C, Feigi GC, Kim CJ, Hori T, Tatagiba M, Kasuya H, Inoue I
    • Journal Title

      Neuroscience

      Volume: 169 Pages: 339-343

    • Related Report
      2012 Final Research Report 2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Positional effects of polymorphisms in probe-target sequences on genoplot images of oligonucleotide microarrays2010

    • Author(s)
      Cui TL, Nakaoka H, Akiyama K, Kamura H, Hosomichi K, Bae J, Cheong H, Shin H, Yada T, Inoue I
    • Journal Title

      Genet Mol Res

      Volume: 9 Issue: 1 Pages: 524-531

    • DOI

      10.4238/vol9-1gmr737

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Genome-wide association study of intracranial aneurysms identifies 5 risk loci2010

    • Author(s)
      Yasuno K, Bilguvar K, Bijlenga P, Kee ALS, Krischek B, Auburger G, Simon M, Krex D, Arlier Z, Nayak N, Ruigrok Y, Niemela M, Tajima A, Frauberg M, Tamas D, Wirjatijasa F, Hata A, Jordi B, Oszvald A, Kasuya H, Gulam Z, Schoch B, Pankaj S, Stuer C, Roelof R, Beck J, Sola T, Ricciardi F, Aromaa A, Illig T, Schreiber S, Duijin CM, Berg LH, Claire P, Carole P, Roder C, Ozturk A, Gaal E, Jeremy W, Berg D, Geisen C, Christoph F, Paul S, Alex F, State MW, Wichmann HE, Breteler MMB, Wijmenga C, Mane S, Juan JE, Sandalcioglu IE, Meyer B, Raabe A, Daniel R, Jaaskelainen A, Hemesniemi J, Rinkel GJE, Zewnbutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Guenel M
    • Journal Title

      Nat Genet

      Volume: 43 Issue: 5 Pages: 420-425

    • DOI

      10.1038/ng.563

    • Related Report
      2012 Final Research Report 2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genetics of Moyamoya disease2010

    • Author(s)
      Roder C, et al.
    • Journal Title

      J Hum Genet

      Volume: 55 Pages: 816-821

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Common variants in the ATP2B1 gene are associated with susceptibility to hypertension : The Japanese Millennium Genome Project2010

    • Author(s)
      Tabara Y, et al.
    • Journal Title

      Hypertension

      Volume: 56 Pages: 973-980

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Differential Effects of chromosome 9p21 variation on subphenotypes of intracranial aneurysm : site distribution2010

    • Author(s)
      Nakaoka H, et al.
    • Journal Title

      Stroke

      Volume: 41 Pages: 1593-1598

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Book] 病気はどこで生まれるのか 進化医学でさぐる病気のしくみ(知りたい!サイエンス)2012

    • Author(s)
      井ノ上逸朗
    • Total Pages
      223
    • Publisher
      技術評論社
    • Related Report
      2012 Final Research Report
  • [Book] 病気はどこで生まれるのか 進化医学でさぐる病気のしくみ (知りたい!サイエンス)2012

    • Author(s)
      井ノ上 逸朗
    • Total Pages
      223
    • Publisher
      技術評論社
    • Related Report
      2012 Annual Research Report

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Published: 2010-08-23   Modified: 2019-07-29  

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