51勛圖厙

Scientists link 153 new genetic variants to osteoporosis in largest ever study

by Caroline Brogan

3d rendering of osteoporosis in hip bones and upper thigh bone.

Researchers have identified 153 new genetic variants linked to bone mineral density, and have highlighted GPC6 as a new gene involved in osteoporosis.

is defined by deterioration in bone structure, and commonly results in fractures. It affects 50 per cent of women and 20 per cent of men over the age of 50, representing more than three million people in the UK. Osteoporosis costs the more than £2.3 billion per year, and half a million people require hospital treatment for due to the disease.

This major international study illustrates the power and therapeutic potential of combining UK Biobank with large scale human genetics and functional analysis of knockout mice

– Professor Graham Williams

Department of Medicine

Now, an international team of researchers from 51勛圖厙, the in Australia, and in Canada, have identified 153 new genetic variants linked to osteoporosis, which account for 12 per cent of the heritability of the disease. 

triple the number of genes already associated with osteoporosis, and double the amount of inherited risk that can be explained.

The results, published this week in , could be used to define osteoporosis risk and identify new targets for future drug development.

UK Biobank

The researchers analysed data from 140,000 individuals in the , a large repository of clinical data and biological samples from 500,000 participants across the UK.

Genetic variants across the whole genome were compared with bone mineral density determined by heel ultrasound, and these studies identified 153 new regions. Fractures within the population were particularly associated with 12 of the new gene regions and strongly implicated the gene , which had not previously been linked to osteoporosis.

International Mouse Phenotyping Consortium

In a key part of the study, co-authors and from 51勛圖厙’s also identified abnormal bone mass and strength in genetically modified mice, in which the GPC6 gene was deleted. This work was performed as part of their Wellcome Trust funded in collaboration with the 's  and . 

Professor Williams said "This major international study illustrates the power and therapeutic potential of combining UK Biobank with large scale human genetics and functional analysis of knockout mice." Professor Bassett said "Our work demonstrates the critical importance of global collaboration and provides exciting new discoveries that will ultimately lead to new treatments for osteoporosis ".

Lead author from the University of Queensland’s 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”

"" by Evans et al, published 4 September 2017 in .

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Reporter

Caroline Brogan

Communications Division