Investigators have identified 56 genetic variants that influence bone mineral density, according to a study published in Nature Genetics.
“This is the largest osteoporosis genetic study ever done,” senior author Douglas P. Kiel, MD, MPH, stated in an Institute for Aging Research at Hebrew SeniorLife news release. “The ultimate goal of genetic studies like this is to develop personal, gene-based treatments for osteoporosis as well as to better identify those at high risk for the disease. The findings could lead to new treatments to prevent or treat osteoporosis.”
According to the study abstract, researchers performed a meta-analysis on femoral neck and lumbar spine bone mineral density (BMD) that included 17 genome-wide association studies and 32,961 individuals.
The researchers pooled data from the 17 studies in the meta-analysis, according to the release, then replicated their findings by reviewing data from 34 more studies involving 50,933 more individuals. Individuals involved in the study received bone density scans and underwent genotyping, with findings from the BMD work being compared with data culled from31,106 individuals with a history of fracture and 102,444 control individuals.
According to the abstract, the investigators identified 32 new genetic variants linked to BMD levels in addition to the 24 that had already been so linked. Fourteen of the genetic variants were specifically linked to an increased risk of bone fracture. The authors wrote in the paper the results “indicate that hundreds of variants with small effects may contribute to the genetic architecture of BMD and fracture risks.”
Kiel noted in the release that the researchers also identified groups of individuals with fewer than normal genetic factors linked to BMD issues, which seems to protect them from developing osteoporosis or sustaining fractures.
“We also established that, as compared to women carrying the normal range of genetic factors, women with an excess of BMD-decreasing genetic variants had up to a 56% higher risk of having osteoporosis and a 60% increased risk for all types of fractures,” he stated.
- Estrada K, Styrkarsdottir U, Evangelou E, et al. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Gen. 2012. doi:10.1038/ng.2249