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Bone Mineral Density and Polymorphism of Candidate Genes Regulating the Onset of Osteoporosis.

Research Project

Project/Area Number 14370462
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Orthopaedic surgery
Research InstitutionKYOTO UNIVERSITY

Principal Investigator

TSUBOYAMA Tadao  KYOTO UNIVERSITY, FACULTY OF MEDICINE, Professor, 医学部, 教授 (90261221)

Co-Investigator(Kenkyū-buntansha) HOSOKAWA Masanori  AICHI HUMAN SERVICE CENTER, INSTITUTE FOR DEVELOPMENTAL RESEARCH, DEPARTMENT OF PATHOLOGY, Department Head, 究所, 病理学部長 (00127135)
SHIMIZU Motoyuki  KYOTO UNIVERSITY, GRADUATE SCHOOL OF MEDICINE, Assistant Professor, 医学研究科, 助手 (10343229)
Project Period (FY) 2002 – 2003
Project Status Completed (Fiscal Year 2003)
Budget Amount *help
¥4,700,000 (Direct Cost: ¥4,700,000)
Fiscal Year 2003: ¥2,100,000 (Direct Cost: ¥2,100,000)
Fiscal Year 2002: ¥2,600,000 (Direct Cost: ¥2,600,000)
KeywordsOsteoporosis / Bone density / Polymorphism / Candidate gene / モデル動物
Research Abstract

The correlation was investigated between bone mineral density (BMD) of lumber spine or proximal femur and polymorphic genotype of several genes in 73 healthy young women. Among the genes studied, three had already been reported as candidate genes controlling bone density, i. e., Estrogen receptor α, Vitamin D receptor, and 5, 10-Methylenetetrahydrofolate Reductase (MTHFR). Another gene, IFP35, was a new candidate gene, from the study of an animal model using interval-specific congenic mice between SAMP6 and SAMP2 strains.
There was no correlation between BMD and polymorphism of Estrogen receptor α and Vitamin D receptor, while VV genotype of MTHFR showed significantly higher BMDs in 1^<st>, 2^<nd>, and 3^<rd> lumber spine than other genotypes. Regarding IPF35, direct sequencing of all the exons revealed no polymorphism among the population studied.
Sub-congenic strains between SAMP6 and SAMP2 confirmed the existence of loci regulating bone density in a 3 cM interval on Chr 13. All the exons of 74 genes in this interval were sequenced, and polymorphisms with amino acid substitution were found in 15 genes. Among them, Ggps1 (gerany1-gerany1 diphosphate synthase 1) and Tbce (tubullin specific chaperone E) seemed to be possible candidate genes.

Report

(3 results)
  • 2003 Annual Research Report   Final Research Report Summary
  • 2002 Annual Research Report
  • Research Products

    (9 results)

All Other

All Publications (9 results)

  • [Publications] S.Kasai, M.Shimizu, et al.: "Consistency of low bone density across bone site in the laboratpry mice : SAMP6"J Bone Miner Metab. 22(3). 207-214 (2004)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 細川昌則, 清水基行 他: "老年性骨粗鬆症関連遺伝子の同定とその機能解析研究-コンジェニックマウスを用いた分子遺伝学的研究-"Res Rep Takeda Med Res Found. 30. 113-117 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 坪山直生, 清水基行 他: "大腿骨頚部骨折発生機序の調査"Osteoporosis Japan. 11(7). 563-566 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] M.Shimizu, K.Higuchi, et al.: "A congenic mouse and candidate gene at the Chromosome 13 locus regulating bone density."Mamm Genome. 13(7). 335-340 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Kasai S, Shimizu M, Matsumura T, Okudaira S, Matsushita M, Tsuboyama T, Nakamura T, Hosokawa M.: "Consistency of low bone density across bane sites in SAMP6 laboratory mice."J Bone Miner Metab. 22(3). 207-214 (2004)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Shimizu M, Higuchi K, Kasai S, Tsuboyama T, Matsushita M, Matsumura T, Okudaira S, Mori M, Koizumi A, Nakamura T, Hosokawa M.: "A congenic mouse and candidate gene at the Chromosome 13 locus regulating bone density."Mamm Genome. 13(7). 335-340 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] S.Kasai, M.Shimizu, et al.: "Consistency of low bone density across bone site in the laboratpry mice : SAMP6"J Bone Miner Metab. (In press)(掲載予定). (2004)

    • Related Report
      2003 Annual Research Report
  • [Publications] 坪山直生, 清水基行, 他: "大腿骨頚部骨折発生機序の調査"Osteoporosis Japan. 11(7). 563-566 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] M.Shimizu et al.: "A congenic mouse and candidate gene at the Chromosome 13 locus regulating bone density"Mamm Genome. 13(7). 335-340 (2002)

    • Related Report
      2002 Annual Research Report

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Published: 2002-04-01   Modified: 2016-04-21  

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