Using data collected from more than 50,000 people across the world, including more than one thousand women from WA, the team identified a genetic variant near the gene “EN1” as having the strongest effect on bone mineral density (BMD) and fracture.
The discovery will open up new opportunities for global research into the prevention and treatment of osteoporosis, a common disease that causes bone fractures in up to a third of the world’s female population over the course of their lives, but with few safe and effective treatments.
UWA Adjunct Associate Professor Scott Wilson, a molecular geneticist and investigator in the study, said the detailed genetic information available through genome sequencing allowed the researchers to identify rarer variants associated with bone mineral density and osteoporosis which could not have been detected by previous studies.
“Our study provides a clear demonstration that uncommon genetic variants can have an important impact on common diseases, as has been demonstrated in the case of EN1 and osteoporosis,” Professor Wilson said.
“The findings give us hope that, with wider use of genome sequencing technology, we can develop a full understanding of genes associated with osteoporosis.”
QEII Clinical Professor John Walsh, a leading WA physician treating bone diseases, said it was pleasing to see the role played by local researchers in the landmark study.
“As a result of genetic research into osteoporosis and other bone disorders, we are beginning to develop a much clearer understanding of the underlying physiology and genetic causes of bone diseases,” Professor Walsh said.
“The challenge now is to use this research to make improvements to human health and develop therapies in the future to treat these diseases.”
Click here to view the research published research in the Nature Science Journal