Genetic Epidemiology of Osteoporosis

Fracture caused by osteoporosis is a major public health problem in Australia and around the world. The lifetime risk of hip fracture (1/6) is higher than the risk of breast cancer (1/9). Virtually all fractures are associated with decreased life expectancy and reduced quality of life. The annual cost of osteoporosis in Australia is ~$7 billion. Our vision is to make a positive difference in osteoporotic patients’ lives through understanding of genomic variation and non-genomic aetiological factors to differences in osteoporosis susceptibility, and to translate this knowledge into individualised use in clinical practice and public health policy.

Our research focuses on the genetics and epidemiology of osteoporosis. Specifically, we are interested in uncovering risk factors and novel osteoporosis genes, and translating these factors into prognostic models for assessing the risk of fracture and its consequences for an individual. Our lab has demonstrated the association between postural sway, muscle weakness and fracture. We have found a link between fragility fracture and mortality. In recent years, we became interested in translational research with personalised medicine as a guiding principle. We have advanced the idea of individualised risk assessment, and have developed the world’s first nomogram for predicting fracture and hip fracture. This nomogram was subsequently implemented in a dedicated website (

In the mid-1990s, through a series of twin studies we have demonstrated the contribution of genetic factors to the variation in bone mineral density. Since then, our own work and international collaboration have identified several genetic variants that are associated with fracture risk. We are interested in the incorporation of the newly identified variants in the individualised fracture risk assessment.

Our lab has extensive collaborations with colleagues around the world in the fields of epidemiology and genetics of osteoporosis. We have worked with Vietnamese colleagues in Hanoi and Ho Chi Minh City to determine the prevalence of and risk factors for vitamin D deficiency and its link to osteoporosis and fracture. 

In the News

Success for Garvan researchers at key bone biology conference - Jun 27, 2017
Professor Tuan Nguyen receives UNSW Sydney’s highest academic award - Jun 19, 2017
Outwitting the ‘silent thief’: how clues in our genes could help prevent osteoporotic fracture - Oct 14, 2016
Know Your Bones: new online bone health assessment tool launches - Jun 16, 2016
Australians across the generations at risk with weak understanding of osteoporosis - Oct 20, 2015
How bones reflect genetic variation among populations - Mar 30, 2015
Study shows high prevalence of knee osteoarthritis in Vietnam - Apr 11, 2014
Muscle is three times better than fat for bones - Jan 20, 2014
Fat and obesity gene also affects hip fracture - Sep 25, 2013
Obesity may explain reduced bone fracture worldwide - Apr 10, 2013
How a snapshot of ASEAN scientific capabilities can guide us - Jul 05, 2011
Beta-blocker use protects bone health - Nov 09, 2010
Simple diagnostic tool predicts Type 2 diabetes in South East Asians - Jul 07, 2010
Raising the question of obesity in Asia - Feb 12, 2010
Why measuring absolute risk of fracture could save many broken bones - Jul 28, 2009
Summarising a fractured debate about meat, fish, eggs, vegetables and bones - Jul 02, 2009
When to get your bone density measured - that is the question - May 11, 2009
Vegan Buddhist nuns have same bone density as non-vegetarians - Apr 16, 2009
Study shows that prostate cancer increases the risk of bone fracture - May 14, 2008
Genotyping takes us closer to an osteoporosis fingerprint - May 01, 2008
Web-based tool to predict risk of bone fracture - Mar 07, 2008
Low testosterone in men doubles their risk of bone fracture - Jan 16, 2008


Diseases We Research

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