A new study led by researchers from the Lady Davis Institute (LDI) at the Jewish General Hospital (JGH) has succeeded in compiling an atlas of genetic factors associated with estimates of bone mineral density (BMD), one of the most clinically relevant. factors in diagnosing osteoporosis. This paper, published in Natural Genetics, identifying 518 loci of the genome area, of which 301 were recently discovered, which explained 20% of the genetic variants associated with osteoporosis. Having identified so many genetic factors offers great promise for the development of new targeted therapies to treat diseases and reduce the risk of fractures.
"Our findings represent significant progress in highlighting drug development opportunities," Dr. Brent Richards, principal researcher, geneticist at the LDI Center for Epidemiology Clinic who treats patients with osteoporosis in practice at JGH. "This series of genetic changes that affect BMD provides a target for drugs that might be useful for the prevention of osteoporosis fractures."
Osteoporosis is a very common age-related condition characterized by progressive reduction in bone strength, which results in a high risk of fractures. Especially among older patients, fractures can have severe consequences, including the risk of death. Among all sufferers, the fracture imposes a major burden on hospitalization and extended rehabilitation. As the population increases, the urgency of increasing prevention measures becomes increasingly intense.
"We currently have several treatment options," 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 use drugs now for fear of side effects. Although it is always better to prevent than cure. We can prescribe injections those who build bones, but they are very expensive, we have drugs that prevent bone loss, but they have to be taken on a tight schedule. As a result, the number of people who must be treated, but not, is high. Therefore, we believe that we will have greater success in making patients take part in a treatment regimen when it can be simplified. "
This is the largest study ever conducted on the genetic determinants of osteoporosis, assessing more than 426,000 people in the UK Biobank. After analyzing the data, the researchers further refined their findings to isolate a series of highly enriched genes for known drug targets. This smaller target gene group will allow drug developers to narrow their search for solutions to clinical problems preventing fractures in people who tend to experience osteoporotic fractures. Animal models have proven the validity of some of these genes.
"Although we found many genetic factors associated with BMD, the types of precision drugs offered by genetics allow us to hone the factors that can have the greatest effect on increasing bone density and reducing the risk of fractures," Dr. John Morris, also from LDI and McGill University, the lead authors of this study.
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An atlas of genetic influence on osteoporosis in humans and mice, Natural Genetics (2018). DOI: 10.1038 / s41588-018-0302-x, https://www.nature.com/articles/s41588-018-0302-x