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New & # 39; atles & # 39; of genetic influences on osteoporosis


On the left there is a normal bone and, to the right, the osteoporotic osteoporosis. Credit: International Osteoporosis Foundation

A new innovative study led by researchers from the Lady Davis Institute (LDI) at the Jewish General Hospital (JGH) has 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 document, published in Genetics of nature, identifies 518 loci of the entire genome, of which 301 are newly discovered, which account for 20% of the genetic variance associated with osteoporosis. Identifying so many genetic factors offers a great promise for the development of new therapeutic specific to treat the illness and reduce the risk of fracture.

"Our findings represent significant advances in the improvement of drug development opportunities," explains Dr. Brent Richards, lead researcher, geneticist at the Center for Clinical Epidemiology of LDI, which treats patients with osteoporosis in their practice at the JGH. "This set of genetic changes that influence BMD provide pharmacological goals that can be useful for the prevention of osteoporotic fractures."

Osteoporosis is a very common condition related to age, characterized by the progressive reduction of bone strength, which presents a high risk of fracture. Especially in older patients, fractures can have serious consequences, including the risk of mortality. Among all the people who suffer, fractures impose severe hospitalization and prolonged restorations. As the population ages, the urgency of improving preventative measures becomes even more intense.

"We currently have few treatment options," said Dr. Richards, Professor of Medicine, Human Genetics, and Epidemiology and Bioestadistics at McGill University, "and many patients at high risk of fractures do not take current medications for fear. Although it is always better to prevent them from treating, we can prescribe injectables that create bones, But they are prohibitively expensive, we have medications that prevent loss of the home, but it is necessary to have a strict calendar. Result, the number of people that have to be treated, but they are not, is high. Therefore, we believe we will have More successful in getting patients to follow a treatment regime when it can be simplified. "

This was the largest study ever made of genetic determinants of osteoporosis, evaluating more than 426,000 individuals in the Biobank of the United Kingdom. After analyzing the data, the researchers further refined their findings to isolate a set of genes very enriched for well-known drugs goals. This smaller set of objective genes will allow drug developers to reduce the search for a solution to the clinical problem of avoiding fractures in those who are predisposed to osteoporotic fractures. Animal models have already shown the validity of some of these genes.

"Although we find many genetic factors associated with BMD, the type of precision medication offered by genetics should allow us to influence factors that can have the greatest effect on the improvement of bone density and decrease the risk of fracture" , said Dr. John. Morris, also from the LDI University and McGill, lead author of the study.

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More information:
An atlas of genetic influences on osteoporosis in humans and mice, Genetics of nature (2018). DOI: 10.1038 / s41588-018-0302-x,

Journal Reference:
Genetics of nature

Provided by:
McGill University

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