Choice of study phenotype in osteoporosis genetic research.
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.
Chen
Yuan
Y
The Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, Shannxi 710049, China.
Shen
Hui
H
Yang
Fang
F
Liu
Peng-Yuan
PY
Tang
Nelson
N
Recker
Robert R
RR
Deng
Hong-Wen
HW
D000818:Animals; D050723:Fractures, Bone / Q000150:complications; D006801:Humans; D010024:Osteoporosis / Q000150:complications / Q000235:genetics*; D010641:Phenotype; D012106:Research