WEDNESDAY, April 18 (HealthDay News) -- Pooling the results of numerous studies, 56 genetic variants associated with bone mineral density have been identified, of which 14 are associated with fracture risk, according to a study published online April 15 in Nature Genetics.
Karol Estrada, from the Erasmus Medical Center in Rotterdam, Netherlands, and colleagues performed a meta-analysis of 17 genome-wide association studies on bone mineral density of the lumbar spine and femoral neck involving 32,961 individuals of European and Asian ancestry. The results were verified in an independent set of 50,933 individuals and in 31,016 individuals with a history of fracture and 102,444 controls.
The researchers identified 56 loci associated with bone mineral density, of which 32 were new and only some were known to be involved in bone biology. Several loci clustered within Wnt signaling, endochondral ossification, mesenchymal stem cell differentiation, and RANK-RANKL-OPG pathways. Fourteen of these bone mineral density-associated loci correlated with fracture risk, of which six were very strongly associated.
"In conclusion, these findings highlight the highly polygenic and complex nature of bone mineral density variation, shed light on the pathophysiological mechanisms underlying fracture susceptibility, and may contribute to the identification of future drug targets for the treatment of osteoporosis," Estrada and colleagues write.
Several authors disclosed financial ties to deCODE genetics.
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