Researchers Probe Genome, ID Genes for Bone Strength

Scientists from the University of Virginia, the University of Maryland, Yale and Maine Medical Center Research Institute have advanced osteoporosis research by identifying more than a dozen genes that could very well be responsible for bone density and strength.

As indicated in the December 14, 2016 news release, “In charting the genome, scientists commonly rely on what are known as genome-wide association studies, or GWAS. These studies identify locations in the genome where genes associated with a certain disease are thought to be located. The problem, though, is that GWAS alone doesn’t tell them which genes are truly influencing a disease.

“What’s really challenging is going that next step and figuring out which genes are responsible, ” said researcher Charles Farber, Ph.D., of the University of Virginia School of Medicine’s Center for Public Health Genomics. “It’s similar to dropping a pin on a map app. So the GWAS drops the pin, but it doesn’t tell you anything about what’s going on at that location, the mechanism through which genetic variants influence a disease.”

As indicated in the news release, the scientists “identified genes that appeared to work together, and then they mapped those genes onto the locations identified by GWAS. By cross-referencing the two, they were able to predict 33 genes that they believe are responsible for controlling bone density. Eighteen of the genes had been shown previously to play a role, but the other 15 were new.”

“The researchers have since tested two of the previously unknown genes and confirmed that they contribute to controlling bone mineral density. The researchers don’t expect their predictions will have a 100 percent success rate, but they believe the technique has great promise for helping accelerate the process of determining gene function. And by more quickly understanding gene function, they accelerate the process of developing new drugs to target those genes to treat disease.”

Dr. Farber commented to OTW, “GWAS have been incredibly successful at identifying regions of the genome harboring genetic variation associated with traits such as BMD [bone mineral density]. However, GWAS just highlights a region, these studies do not tell you which gene is responsible for the association. Our work was motivated by the need to develop strategies that enable scientists to more rapidly identify the responsible genes.”

“Recently, it was shown that drug targets identified by genetic studies, such as GWAS, were twice as likely to result in successful therapeutics. Therefore, identifying the genes underlying BMD GWAS has the potential to led to new therapies for the treatment of disorders of low bone mass such as osteoporosis.”