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16/04/2012
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Discovery of new genetic markers opens novel pathways to treating osteoporosis
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Led by a team of investigators, including Dr. Brent Richards from the Lady Davis Institute at the Jewish General Hospital, the largest genome-wide meta-analysis ever conducted into bone mineral density (BMD) has uncovered 56 genetic pathways – 32 of which are novel – associated with the architecture and physiology of bone density. BMD is the most important predictor of an individual’s risk for fractures.Sufferers of osteoporosis, a disease characterized by low bone mass and the progressive deterioration of bone tissue, could benefit from the promise this discovery holds for identifying new and more effective drug targets. The results of the study appear in the prestigious journal Nature Genetics, online April 15, 2012 and in the June 2012 print edition.
“The fact that our extensive analysis succeeded in identifying six of eight existing drug targets for treating osteoporosis supports the evidence that the novel pathways we revealed are promising targets for new drug development,” said Dr. Richards, a research scientist at the Lady Davis Institute and assistant professor of medicine, human genetics, epidemiology and biostatistics at McGill University.
Osteoporosis is a serious disease that accounts for approximately 1.5 million fractures annually. Associated health care costs are estimated to be $17 billion in the United States alone, and are expected to rise a further 50% by 2025. While identifying the genes connected with bone density probably won’t predict who will contract osteoporosis, previous studies have shown that approximately 80% of the clinical measures of BMD are tied to genetics.
This study points to hundreds of variants with small effects that play a role in the genetic architecture of BMD and fracture risk, thus underscoring the complexity of bone formation and integrity. As the most extensive undertaking of its type, it included more than 80,000 subjects on all continents and involved the efforts of more than 100 researchers world-wide.
“By discovering new genetic links to BMD, we open the prospects that entirely new classes of drugs may prove efficacious in preserving bone density and preventing fractures,” said Dr. Richards. “Furthermore, having identified novel genetic markers associated with bone density, we can take any drugs that target those genes and test whether they are effective against osteoporosis.”
The paper entitled “Genome-wide meta-analysis identifies 56 mineral density loci and reveals 14 loci associated with risk of fracture,” is available online.
For further information, and to arrange interviews, contact:
Tod Hoffman
Research Communications Officer
Lady Davis Institute
Tel.: 514-340-8222 x 8661
Email: thoffman@jgh.mcgill.ca
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