Largest ever genetic study marks likely osteoporosis treatment target

September 5, 2017, University of Queensland
Credit: CC0 Public Domain

Scientists are homing in on a potential treatment for osteoporosis, after performing the largest ever genetic study of the common age-related bone-thinning disease.

Researchers from The University of Queensland and McGill University in Canada led the study, identifying 153 new gene variants associated with the loss of bone mineral density, which often result in fractures.

UQ Diamantina Institute researchers Dr John Kemp and Professor David Evans found a strongly implicated gene GPC6, which had not previously been linked to .

"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," Professor Evans said.

"Our studies show that removing it in animal models resulted in an increase in bone thickness."

One in 10 Australians aged over 50 have osteoporosis or low bone mineral density, and the is more common in women than in men.

Associate Professor J. Brent Richards from McGill University said there is a strong inherited component with bone health, but osteoporosis often goes undetected until a fracture occurs.

"In 8540 participants who reported previous fractures from simple falls, associations were made with 12 of the new gene regions," Dr Richards said.

Credit: University of Queensland

The genome-wide association study involved more than 140,000 individuals from the UK Biobank, with density assessments taken from ultrasounds of the heel.

It triples the number of known to be implicated in the loss of , and the new gene variants account for 12 per cent of the heritability of the disease.

The results could be used to develop screening programs in the future to identify individuals who would benefit most from preventive measures.

A further study underway of half a million individuals is likely to shed more light on the genetics underlying the disease, and help prioritise genes most likely to lead to new treatments.

The research is published in Nature Genetics.

Explore further: Blood marker may predict postmenopausal women's risk of bone fractures

More information: John P Kemp et al. Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis, Nature Genetics (2017). DOI: 10.1038/ng.3949

Related Stories

Blood marker may predict postmenopausal women's risk of bone fractures

August 16, 2017
In a study published in the Journal of Bone and Mineral Research, blood tests that detect fragments of a protein secreted by bone cells helped to predict fracture risk in postmenopausal women, independently of bone mineral ...

Abaloparatide benefits a wide range of postmenopausal women with osteoporosis

September 19, 2016
A recent analysis of results from a randomized controlled clinical trial indicates that abaloparatide-SC, a novel therapy for osteoporosis, provides consistent protection against bone fractures in postmenopausal women with ...

Specific long-term therapy may not prevent fractures in older women

June 2, 2017
Osteoporosis is a disease that causes thinning of the bones, loss of bone density, and increasingly fragile bones. This puts people at higher risk for bone fractures. Risk for the disease increases as we age. In fact, 50% ...

Genes linked to osteoporosis, bone breaks

April 16, 2012
Researchers at The Institute for Aging Research at Hebrew SeniorLife, an affiliate of Harvard Medical School, have co-authored the largest meta-analysis of genome-wide association studies of osteoporosis as part of an international ...

Assessment of bone density and fracture history can predict long-term fracture risk

June 21, 2017
Factors such as low bone density and previous fractures are commonly used to predict an individual's risk of experiencing a fracture over the next 10 years. A new analysis has found that a single bone density measurement ...

Recommended for you

New methods find undiagnosed genetic diseases in electronic health records

March 15, 2018
Patients diagnosed with heart failure, stroke, infertility and kidney failure could actually be suffering from rare and undiagnosed genetic diseases.

Study finds that genes play a role in empathy

March 12, 2018
A new study published today suggests that how empathic we are is not just a result of our upbringing and experience but also partly a result of our genes.

Large-scale genetic study provides new insight into the causes of stroke

March 12, 2018
An international research consortium studying 520,000 individuals from around the world has identified 22 new genetic risk factors for stroke, thus tripling the number of gene regions known to affect stroke risk. The results ...

Study suggests some CpGs in the genome can be hemimethylated by design

March 9, 2018
A pair of researchers at Emory University has found that some CpGs in the genome can be hemimethylated by design, rather than by chance. In their paper published in the journal Science, Chenhuan Xu and Victor Corces describe ...

Intravenous arginine benefits children after acute metabolic strokes

March 9, 2018
Children with mitochondrial diseases who suffered acute metabolic strokes benefited from rapid intravenous treatment with the amino acid arginine, experiencing no side effects from the treatment. The diseases were caused ...

Inherited mutation leads to overproduction of EPO

March 9, 2018
A newly discovered hereditary mutation is responsible for an increased production of erythropoietin (EPO) in the blood. This mutation causes a messenger RNA (mRNA) that is not normally involved in the formation of proteins ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.