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Genetic analysis of susceptibility genes for osteoarthritis of the knee joing

Research Project

Project/Area Number 21390417
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Orthopaedic surgery
Research InstitutionThe University of Tokyo

Principal Investigator

MABUCHI Akihiko  東京大学, 大学院・医学系研究科, 准教授 (80312312)

Co-Investigator(Kenkyū-buntansha) TOKUNAGA Katsushi  東京大学, 大学院・医学系研究科, 教授 (40163977)
YOSHIMURA Noriko  東京大学, 医学部附属病院, 特任准教授 (60240355)
AKUNE Tooru  東京大学, 医学部附属病院, 特任准教授 (60282662)
Co-Investigator(Renkei-kenkyūsha) MURAKI Shigeyuki  東京大学, 医学部附属病院, 特任助教 (40401070)
OKA Hiroyuki  東京大学, 医学部附属病院, 特任助教 (60401064)
Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥17,810,000 (Direct Cost: ¥13,700,000、Indirect Cost: ¥4,110,000)
Fiscal Year 2011: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2010: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2009: ¥8,970,000 (Direct Cost: ¥6,900,000、Indirect Cost: ¥2,070,000)
Keywords変形性関節症 / 関節病学 / 変形性膝関節症
Research Abstract

To investigate the underlying genetic variants in EPAS1 and MMP13 in osteoarthritis, we conducted a case-control association study in Japanese population. 475 patients and 563 health individuals from two areas(Itabashi and Miyama) of Japan were genotyped using restriction fragment length polymorphism and TaqMan SNP Genotyping Assays. The allele frequencies of rs1703192 in EPAS1 and rs2252070 in MMP13 were significantly different between knee osteoarthritis patients and healthy controls. In Itabashi cohort analysis, rs1703192 was associated with knee osteoarthritis under allelic(χ2test : p=0. 018) and recessive model(p=0. 031). In the cohorts-combined analysis, the associations were observed in rs1703192 under allelic(p=0. 013) and recessive(p=0. 018) models, and in rs2252070 under recessive model(p=0. 039).

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (10 results)

All 2012 2011 2010 2009

All Journal Article (10 results) (of which Peer Reviewed: 10 results)

  • [Journal Article] C/EBPβ and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2α as the inducer in chondrocytes2012

    • Author(s)
      Hirata M、Kugimiya F、Fukai A、Saito T、Yano F、Ikeda T、Mabuchi A、Sapkota BR、Akune T、Nishida N、Yoshimura N、NakagawaT、Tokunaga K、Nakamura K、Chung UI、Kawaguchi H
    • Journal Title

      Human Molecular Genetics

      Volume: 21 Issue: 5 Pages: 1111

    • DOI

      10.1093/hmg/ddr540

    • URL

      https://localhost/en/publications/abfc611f-c496-404e-9463-c7714f2b9a40

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q222011

    • Author(s)
      Evangelou E, et al
    • Journal Title

      Ann Rheum Dis

      Volume: 70 Issue: 2 Pages: 349-355

    • DOI

      10.1136/ard.2010.132787

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Transcriptional regulation of endochondral ossification by HIF2A during skeletal growth and osteoarthritis development2010

    • Author(s)
      Saito T、Fukai A、Mabuchi A、Ikeda T、Yano F、Ohba S、Nishida N、Akune T、Yoshimura N、Nakagawa T、Nakamura K、Tokunaga K、Chung UI、Kawaguchi H
    • Journal Title

      Nature Medicin

      Volume: Vol.16 Issue: 6 Pages: 678-686

    • DOI

      10.1038/nm.2146

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Transcriptional regulation of endochondral ossification by HIF2A during skeletal growth and osteoarthritis development.2010

    • Author(s)
      Saito T, Fukai A, Mabuchi A, Ikeda T, Yano F, Ohba S, Nishida N, Akune T, Yoshimura N, Nakagawa T, Nakamura K, Tokunaga K, Chung UI, Kawaguchi H
    • Journal Title

      Nature Medicine

      Volume: 16 Pages: 678-686

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association of radiographic and symptomatic knee osteoarthritis with health-related quality of life in a population-based cohort study in Japan : The ROAD Study2010

    • Author(s)
      Muraki S, Akune T, Oka H, Mabuchi A, En-yo Y, Yoshida M, Saika A, Suzuki T, Yoshida H, Ishibashi H, Tokimura F, Yamamoto S, Nakamura K, Kawaguchi H, Yoshimura N
    • Journal Title

      Osteoarthritis and Cartilage

      Volume: 18 Pages: 1227-1234

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association of occupational activity with radiographic knee osteoarthritis and lumbar spondylosis in elderly patients of population-based cohorts : a large-scale population-based study.2009

    • Author(s)
      Muraki S, Akune T, Oka H, Mabuchi A, En-Yo Y, Yoshida M, Saika A, Nakamura K, Kawaguchi H, Yoshimura N.
    • Journal Title

      Arthritis Rheum. 61

      Pages: 779-786

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Epidemiology of lumbar osteoporosis and osteoarthritis and their causal relationship--is osteoarthritis a predictor for osteoporosis or vice versa? : the Miyama study.2009

    • Author(s)
      Yoshimura N, Muraki S, Oka H, Mabuchi A, Kinoshita H, Yosihda M, Kawaguchi H, Nakamura K, Akune T.
    • Journal Title

      Osteoporos Int. 20

      Pages: 999-1008

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Prevalence of radiographic lumbar spondylosis and its association with low back pain in elderly subjects of population-based cohorts : the ROAD study.2009

    • Author(s)
      Muraki S, Oka H, Akune T, Mabuchi A, En-Yo Y, Yoshida M, Saika A, Suzuki T, Yoshida H, Ishibashi H, Yamamoto S, Nakamura K, Kawaguchi H, Yoshimura N.
    • Journal Title

      Ann Rheum Dis. 68

      Pages: 1401-1406

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Prevalence of radiographic knee osteoarthritis and its association with knee pain in the elderly of Japanese population-based cohorts : the ROAD study.2009

    • Author(s)
      Muraki S, Oka H, Akune T, Mabuchi A, En-yo Y, Yoshida M, Saika A, Suzuki T, Yoshida H, Ishibashi H, Yamamoto S, Nakamura K, Kawaguchi H, Yoshimura N.
    • Journal Title

      Osteoarthritis Cartilage. 17

      Pages: 1137-1143

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Prevalence of knee osteoarthritis, lumbar spondylosis, and osteoporosis in Japanese men and women : the research on osteoarthritis/osteoporosis against disability study.2009

    • Author(s)
      Yoshimura N, Muraki S, Oka H, Mabuchi A, En-Yo Y, Yoshida M, Saika A, Yoshida H, Suzuki T, Yamamoto S, Ishibashi H, Kawaguchi H, Nakamura K, Akune T.
    • Journal Title

      J Bone Miner Metab. 27

      Pages: 620-628

    • NAID

      10027205889

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed

URL: 

Published: 2009-04-01   Modified: 2016-04-21  

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