Largest ever study pinpoints likely osteoporosis treatment

The largest ever genetic study of osteoporosis undertaken by an international team of scientists has pinpointed a potential treatment for the common age-related bone-thinning disease.


The study, undertaken by researchers from the University of Queensland and McGill University in Canada, has identified as many as 153 new gene variants that are linked with the loss of bone mineral density, which often result in fractures.

The researchers found that removing the gene GPC6, which had not previously been linked to osteoporosis, in animal models resulted in an increase in bone thickness.

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 Professor David Evans.


According to Associate Professor Dr J Brent Richards from McGill University, 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.

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

The new study triples the number of genes known to be implicated in the loss of bone mineral density, and the new gene variants account for 12 per cent of the heritability of the disease.

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

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