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2011 Fiscal Year Final Research Report

Genetic analysis of susceptibility genes for osteoarthritis of the knee joing

Research Project

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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
Keywords変形性関節症
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).

  • Research Products

    (3 results)

All 2012 2011 2010

All Journal Article (3 results) (of which Peer Reviewed: 3 results)

  • [Journal Article] C/EBPβand RUNX2 cooperate to degrade cartilage with MMP13 as the target and HIF-2αas theinducer 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: Vol.21 Pages: 1111-1123

    • DOI

      DOI:10.1093/hmg/ddr540

    • Peer Reviewed
  • [Journal Article] Translation Research in Europe Applied Technologies for Osteoarthritis(TreatOA)、Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q222011

    • Author(s)
      Evangelou E、Valdes AM、Kerkhof HJ、Styrkarsdottir U、Zhu Y、Meulenbelt I、Lories RJ、Karassa FB、Tylzanowski P、Bos SD ; arcOGEN Consortium、Akune T、Arden NK、Carr A、Chapman K、Cupples LA、Dai J、Deloukas P、Doherty M、Doherty S、Engstrom G、Gonzalez A、Halldorsson BV、Hammond CL、Hart DJ、Helgadottir H、Hofman A、Ikegawa S、Ingvarsson T、Jiang Q、Jonsson H、Kaprio J、Kawaguchi H、Kisand K、Kloppenburg M、Kujala UM、Lohmander LS、Loughlin J、Luyten FP、Mabuchi A、McCaskie A、Nakajima M、Nilsson PM、Nishida N、Ollier WE、Panoutsopoulou K、van de Putte T、Ralston SH、Rivadeneira F、Saarela J、Schulte-Merker S、Shi D、Slagboom PE、Sudo A、Tamm A、Tamm A、Thorleifsson G、Thorsteinsdottir U、Tsezou A、Wallis GA、Wilkinson JM、Yoshimura N、Zeggini E、Zhai G、Zhang F、Jonsdottir I、Uitterlinden AG、Felson DT、van Meurs JB、Stefansson K、Ioannidis JP、Spector TD
    • Journal Title

      Annals of the Rheumatic Diseses

      Volume: Vol.70 Pages: 349-355

    • DOI

      DOI:10.1136/ard.2010.132787

    • 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 Pages: 678-686

    • DOI

      DOI:10.1038/nm.2146

    • Peer Reviewed

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Published: 2013-07-31   Modified: 2015-12-09  

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