Journal of Bone and Mineral Metabolism

, Volume 27, Issue 2, pp 121–126

Choice of study phenotype in osteoporosis genetic research

  • Yuan Chen
  • Hui Shen
  • Fang Yang
  • Peng-Yuan Liu
  • Nelson Tang
  • Robert R. Recker
  • Hong-Wen Deng
Review Article

DOI: 10.1007/s00774-008-0020-z

Cite this article as:
Chen, Y., Shen, H., Yang, F. et al. J Bone Miner Metab (2009) 27: 121. doi:10.1007/s00774-008-0020-z

Abstract

Osteoporosis is a common disease characterized by compromised bone strength predisposing a person to an increased risk of osteoporotic fracture (OF). Recently, extensive efforts have been made to identify candidate genes underlying osteoporosis by the use of surrogate phenotypes, such as bone mineral density (BMD) and bone geometry. Among them, BMD is a suitable choice if we aim to classify the role of biological pathways for bone strength and to understand the bone conditions in the development of osteoporosis. However, evidences show that the genetic correlation between BMD and OF is very limited. In this review, we are mainly concerned with an important issue, i.e., phenotype choice in osteoporosis genetic research. For clarity, we address this issue with several arguments, and comments are made on most representative literature.

Keywords

Osteoporosis Risk factor Genetic study 

Copyright information

© The Japanese Society for Bone and Mineral Research and Springer 2009

Authors and Affiliations

  • Yuan Chen
    • 1
    • 2
    • 3
  • Hui Shen
    • 4
  • Fang Yang
    • 2
    • 3
  • Peng-Yuan Liu
    • 5
  • Nelson Tang
    • 6
  • Robert R. Recker
    • 3
  • Hong-Wen Deng
    • 1
    • 2
    • 4
  1. 1.The Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics, School of Life Science and TechnologyXi’an Jiaotong UniversityXi’anChina
  2. 2.Laboratory of Molecular and Statistical GeneticsHunan Normal UniversityHunanChina
  3. 3.Osteoporosis Research CenterCreighton UniversityOmahaUSA
  4. 4.Departments of Orthopedic Surgery and Basic Medical SciencesUniversity of Missouri-Kansas CityKansas CityUSA
  5. 5.Department of Surgery, The Alvin J. Siteman Cancer CenterWashington University School of MedicineSt LouisUSA
  6. 6.Department of Chemical PathologyThe Chinese University of Hong KongHong Kong Special Administrative RegionChina

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