23andMe Confirms Genetic Susceptibility to Osteoporosis

Researchers using genetic information from hundreds of thousands of British nationals, identified several genes which, they say, could be targeted with therapies to ward off osteoporosis. The study was funded by the National Institutes of Health (NIH).

“They then confirmed these associations using personal genetics data from hundreds of thousands of people collected by 23andMe, Inc.,” an NIH article on the research says. “Using the larger data set, they also showed that the genetic factors for lower BMD (bone mineral density) were linked to increased risk of bone fracture.”

The research points not only to the possibility of finding treatments, but also that of finding a lot more osteoporosis patients early, and to the possibility that patients might one day be able to get a 23andMe report telling them whether they’re genetically predisposed to low BMD and should see a physician.

Previous studies had already identified some genetic factors related to abnormally low BMD.

In this study, a team led by Brent Richards, M.D., associate professor, Departments of Medicine, Human Genetics, Epidemiology and Biostatistics at McGill University, Montreal, Canada, first analyzed the United Kingdom Biobank’s genome data on 400,000+ white British participants. They identified 518 BMD-related loci (regions) of the genome, 301 of which were previously unknown.

Next, looking into the UK Biobank for fracture risk, they found evidence of 20,122 fractures using medical history, and participants reporting 48,818 fractures.

The team then identified 14 genetic variations associated with fracture that mapped to 13 loci.

The researchers then developed a way to use their data to identify genes likely to influence BMD. They say they found a likely suspect gene called DAAM2, studied it further, and in a series of lab tests on mice, they found that DAAM2 affects bone density, mineralization, porosity, and strength, and five other genes which might also affect BMD and susceptibility to fracture: CBX1, WAC, DSCC1, RGCC, and YWHAE.

“This set of genetic changes that influence BMD provides drug targets that are likely to be helpful for osteoporotic fracture prevention,” Dr. Richards said in the NIH brief.

This work may also lead to the eventual development of more accurate methods to estimate a person’s risk for having weaker bones.

But can 23andMe subscribers or their physicians use their profiles to discover whether they have a higher likelihood of developing osteoporosis?

The data isn’t ready yet, but eventually, yes, Dr. Richards said in an email interview. “Once polygenic risk scores are validated from this data, these results could be used to estimate a risk of low bone density.” His research team is working on that validation now.

In response to our query, a 23andMe spokesman said the company is “always evaluating the current literature and what we're able to provide customers in the way of new reports.”

Based on what 23andMe currently publishes for consumers, osteoporosis seems like a highly likely candidate for a future report, based on the company’s business model.

There are already five reports available at 23andMe on genetic predisposition toward certain diseases: late-onset Alzheimer’s disease, BRCA1/BRCA2 (selected variants), celiac disease, and Parkinson's disease. You can see a sample of what patients who pony up $199 could learn today about genetic health risks at this link.

Results of the study, titled, "An atlas of genetic influences on osteoporosis in humans and mice," supported in part by NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), were published on December 31, 2018, in Nature Genetics.