Sunday , August 1 2021

A new "atlas" of the genetic influences of osteoporosis

The left is a normal bone, and on the right is an osteoporotic bone. Credit: International Foundation for Osteoporosis

A wonderful new study led by researchers at the Institute of Ladybird Davis (LDI) at the Jewish General Hospital (JGH) managed to compile an atlas of genetic factors associated with estimated bone mineral density (BMD), one of the most clinically relevant factors in the diagnosis of osteoporosis. The newspaper, published in Natural genetics, identifies 518 genes wide loci, of which 301 are newly discovered, which explain 20% of the genetic variance associated with osteoporosis. Having identified so many genetic factors offers a great promise to develop novel therapy to treat the disease and reduce the risk of fracture.

"Our findings are significant advances in highlighting drug development opportunities," explains Dr Brent Richards, chief researcher, a geneticist at the Center for Clinical Epidemiology at LDI, who treats patients with osteoporosis in his practice at JGH. "This set of genetic changes that affect BMD provides targets for drugs that are likely to be useful for osteoporotic prevention of fractures."

Osteoporosis is a very common age-related condition characterized by a progressive decrease in bone force, resulting in a high risk of fracture. Particularly in elderly patients, fractures may have serious consequences, including the risk of mortality. Among all sufferers, fractures impose great burdens on hospitalization and prolonged rehabilitation. As the population ages, the urgency to improve preventive measures is becoming more and more intense.

"We currently have few treatment options," said Dr. Richards, a professor of medicine, human genetics and epidemiology and biostatistics at McGill University, "and many patients at high risk of fractures do not take immediate medications for fear of side effects. Independent of it is always better to prevent it than to treat it We can prescribe injections that build bone, but they are too expensive. The result, the number of people who need to be treated, but not, is high. Therefore, we believe that we have more success in getting a patient to follow the treatment regimen when it can be simplified. "

This was the largest study ever undertaken by the genetic determinants of osteoporosis, estimating more than 426,000 people in the British Biobank. After analyzing the data, the researchers further refine their findings to isolate a group of genes that are very strongly enriched for the known purposes of the drug. This smaller set of target genes will allow drug developers to reduce their search for a solution to the clinical problem of preventing fractures in those people who are predisposed to osteoporotic fractures. Animal models have already proven the validity of some of these genes.

"Although we have found many genetic factors associated with BMD, the type of precision drug offered by genetic therapy should allow us to bring closer those factors that can have the greatest impact on improving bone density and reducing the risk of fracture, Dr. John Morris, also from LDI University and McGill, lead author of the study.

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More information:
Atlas of genetic influences of osteoporosis in humans and mice, Natural genetics (2018). DOI: 10.1038 / s41588-018-0302-x,

Reference in the newspaper:
Natural genetics

Provided by:
McGill University

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