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Osteoporosis gene study reveals potential new treatment targets

Published on 08 September 2017
Osteoporosis gene study reveals potential new treatment targets

Scientists have identified a number of new genetic variants that are implicated in the development of osteoporosis following a major study.

The research, led by the University of Queensland in Australia and McGill University in Canada, have carried out the largest ever genetic study of osteoporosis, with their findings potentially paving the way for new approaches to treating the bone disease.

A broad-ranging study
The study was published in the medical journal Nature Genetics and analysed data from more than 140,000 individuals from the UK Biobank, with bone mineral density assessments taken from ultrasounds of the heel.

Assessing this information allowed the team to identify 153 new gene variants associated with the loss of bone mineral density, which often result in fractures. Of 8,540 participants who reported previous fractures from falls, associations were made with 12 of the new gene regions.

Of particular note was the discovery of a strongly implicated gene called GPC6, which had not previously been linked to osteoporosis, as well as the fact that the new gene variants account for 12 per cent of the heritability of the disease.

Potential new therapeutic approaches
Overall, the research triples the number of genes known to be implicated in the loss of bone mineral density, and could underpin future efforts to develop screening programmes to identify individuals who would benefit most from preventive measures.

Professor David Evans, a researcher at the University of Queensland Diamantina Institute, said: "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. Our studies show that removing it in animal models resulted in an increase in bone thickness."

Another study is now underway involving half a million subjects, which will offer further insights into the genetic basis of the disease and help identify the genes most likely to lead to new treatments.

Arthritis Research UK's view
Devi Sagar, research liaison manager at Arthritis Research UK, said: "Around three million people in the UK have osteoporosis, meaning bones are particularly fragile. This can make going about daily life extremely difficult.

"Osteoporosis often has no symptoms. The first sign that you may have it is when you break a bone in a relatively minor fall or accident. We know that osteoporosis runs in families, but the genes associated with this have still not been identified, so this new study is important for increasing our understanding of which gene variants affect the development of osteoarthritis. The more we understand about a condition, the more likely we are to develop better and new treatments."

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