Largest Ever Genomic Study of Osteoporosis Completed
The largest ever genomic study of osteoporosis could help scientists to develop screening programmes for earlier detection and preventative treatments. The research, published in Nature Genetics yesterday, was able to identify 153 novel gene variants linked to the condition and thereby tripled the number of known osteoporosis-linked genes. The team behind the study was made up of researchers from McGill University, Canada and the University of Queensland, Australia.
Roughly 10% of Australians over the age of 50 suffer from osteoporosis, an age-linked condition that is characterised by a loss of bone density and which is more commonly found in women. This decreased bone density makes a patient’s bone tissue weaker and more brittle, leading to a significantly increased risk of fracture. The disease is known to have a strong inherited component and yet it is rarely detected before a patient suffers their first fracture, when the condition has already progressed significantly.
This study hoped to find a way to develop screening programmes that would enable clinicians to detect the disease earlier and help the patient with preventative measures.
Through a genome-wide association study, the team were able to identify 153 previously unknown genes that appeared to be linked to the disease. It is thought that these new variants could account for 12% of the conditions inheritability. The research also highlighted in particular the gene GPC6, which had not been previously linked to osteoporosis but which was found to be strongly associated with decreased bone density.
“What makes this gene particularly interesting is that it encodes a protein that is present on the surface of cells, making it a potential candidate for a drug target,” said David Evans, Ph.D., a researcher from the University of Queensland who was co-responsible for this finding alongside fellow UQ researcher, John Kemp, Ph.D.. “Our studies show that removing it in animal models resulted in an increase in bone thickness.”
The study involved data from more than 140,000 individuals, provided by UK Biobank. This data included genomic information, as well as bone density assessments taken via an ultrasound of the participants’ heel.
“In 8540 participants who reported previous fractures from simple falls, associations were made with 12 of the new gene regions,” said J. Brent Richards, M.D., M.Sc., Associate Professor at McGill.
Another study of the genetic variants behind osteoporosis with 500,000 individuals is currently underway, and may help to enrich this research to develop improved detection screens.