Insights into the genetics of osteoporosis from recent genome-wide association studies

Hou-Feng Zheng, Timothy D. Spector, J. Brent Richards

Research output: Contribution to journalLiterature reviewpeer-review

28 Citations (Scopus)


Osteoporosis, which is characterised by reduced bone mineral density (BMD) and an increased risk of fragility fractures, is the result of a complex interaction between environmental factors and genetic variants that confer susceptibility. Heritability studies have shown that BMD and other osteoporosis-related traits such as ultrasound properties of bone, skeletal geometry and bone turnover have significant inheritable components. Although previous linkage and candidate gene studies have provided few replicated loci for osteoporosis, genome-wide association approaches have produced clear and reproducible findings. To date, 20 genome-wide association studies (GWASs) for osteoporosis and related traits have been conducted, identifying dozens of genes. Further meta-analyses of GWAS data and deep resequencing of rare variants will uncover more novel susceptibility loci and ultimately provide possible therapeutic targets for fracture prevention.
Original languageEnglish
Article numbere28
Pages (from-to)e28
Publication statusPublished - 2011


Dive into the research topics of 'Insights into the genetics of osteoporosis from recent genome-wide association studies'. Together they form a unique fingerprint.

Cite this