Is Osteoporosis in Your Genes?

Osteoporosis, a condition characterized by frail bone health, is more common than you may think. According to the National Osteoporosis Foundation, roughly 10 million people in the United States are living with this condition. A new study has shed some light on the possible genetic factors behind this condition.

A Map of the Body

Led by Dr. Brent Richards at McGill University, this report examined how genetic variations contributed to low bone mineral density (BMD), which is simply another name for osteoporosis. The study authors cast a wide net, conducting thorough analyses of thousands of human genomes (a genome is the complete set of genetic information in a given organism).

The first group to have their data analyzed were a group of over 400,000 white British volunteers. Using this source, the study authors pinpointed 518 sections of the genome that were believed to be related to BMD. About 300 of these sections, known as loci, had not been previously discovered.

For a second source, the team relied on genome data provided by UK Biobank, a long-running study on the genetic and environmental factors behind certain diseases. Once again, a number of genetic variations were found to have an impact on fracture risk. Specifically, the study concluded that 13 loci contained a total of 14 such variants.

Putting Data to the Test

The next step of this project was to pinpoint specific genes that might influence osteoporosis risk. In all, the team found 126 genes that could be linked to poor bone health. In particular, one gene called DAAM2 caught the authors attention; tests involving laboratory mice found that DAAM2 could negatively affect bone density, porosity and strength. Five additional genes might also prove harmful to the long-term health of bones – CBX1, WAC, DSCC1, RGCC, and YWHAE.

“Our findings represent significant progress in highlighting drug development opportunities,” stated Richards. “This set of genetic changes that influence BMD provides drug targets that are likely to be helpful for osteoporotic fracture prevention.”


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