To identify more than 500 genetic determinants of bone mineral density, researchers expect to provide new opportunities for the development of new drugs for the prevention or treatment of osteoporosis
Source: McGill Reporter
A groundbreaking new study led by researchers from Lady Davis Institute (LDI) at Jewish General Hospital (JGH) has been able to compile an atlas of genetic factors associated with estimated bone mineral density (BMD), one of the most clinically relevant factors in osteoporosis diagnosis . The paper, published in Nature Genetics, identifies 518 genome loci, of which 301 are newly discovered, explaining 20% of the genetic variance associated with osteoporosis. Having identified so many genetic factors gives a great promise of developing new targeted therapies for treating the disease and reducing the risk of fractures.
"Our achievements represent significant progress in highlighting the potential for drug development," Dr. Brent Richards, the lead investigator, a geneticist at LDI's Clinical Epidemiology Center, which treats patients with osteoporosis in his practice at JGH. "This set of genetic changes affecting BMD provides drug targets that are likely to be useful for osteoporotic fracture prevention."
Osteoporosis is a very common age-related condition characterized by the progressive reduction of bone strength, leading to a high risk of fracture. Especially among elderly patients, fracture strengths can have serious consequences, including the risk of mortality. Fractures introduce major burdens for hospitalization and extended rehabilitation. As the population ages, it becomes faster to improve preventive measures.
"We currently have treatment options," says Dr. Richards, a professor of medicine, human genetics and epidemiology and biostatistics at McGill University, "and many patients at high risk of fracture, do not take current medication for fear of side effects. We can prescribe injectable substances that build bone, but they are prohibited expensive, we have drugs that prevent bone loss, but they must be taken on a strict schedule, so the number of people to be treated is Not high, therefore, we think we will be more successful in getting patients to follow a treatment regimen when it can be simplified. "
This was the largest study ever conducted by the genetic determinants of osteoporosis, and rated more than 426,000 individuals in the British biobank. After analyzing the data, the researchers further refined their results to isolate a set of genes that are highly enriched for known drug targets. This smaller set of target genes will allow drug developers to narrow their search for a solution to the clinical problem of preventing fractures in those predisposed to osteoporotic fractures. Animal models have already proved the validity of some of these genes.
"Although we found many genetic factors associated with BMD, the kind of precision medicine offered by genetics should allow us to refine the factors that can have the greatest effect on bone density improvement and reduce the risk of fracture," says Dr. John Morris, also from LDI and McGill University, the lead author of the study.
"An atlas of genetic influences on human and mouse osteoporosis" by John A. Morris et al., Nature Genetics
For media inquiries and for arranging interviews with Dr. Richards, contact:
Research Communications Officer
Lady Davis Institute
Tel: 514-340-8222 x 28661
E-mail: [email protected]
For more on Lady Davis Institute: http://www.ladydavis.ca
For more on the Jewish General Hospital: http://www.jgh.ca
January 3, 2019