2013/01/01 by Shuyan Wu, Yongjun Liu, Lei Zhang +3 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Bone Metabolism and Diseases #Bone health and osteoporosis research #Genetic Associations and Epidemiology
paper · pdf · doi:10.1186/gm448
openalex publication_date 2013/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
Osteoporosis, the most common type of bone disease worldwide, is clinically characterized by low bone mineral density (BMD) and increased susceptibility to fracture. Multiple genetic and environmental factors and gene-environment interactions have been implicated in its pathogenesis. Osteoporosis has strong genetic determination, with the heritability of BMD estimated to be as high as 60%. More than 80 genes or genetic variants have been implicated in risk of osteoporosis by hypothesis-free genome-wide studies. However, these genes or genetic variants can only explain a small portion of BMD variation, suggesting that many other genes or genetic variants underlying osteoporosis risk await discovery. Here, we review recent progress in genome-wide studies of osteoporosis and discuss their implications for medicine and the major challenges in the field.