Geochemical Assay Proving Useful as Real-Time Marker of Bone Change

Changes in calcium isotope ratios may signal bone loss and can be used as a near-real time, rapid test for monitoring both common bone conditions, like osteoporosis, and rarer conditions, like multiple myeloma (MM), according to an abstract presented at Goldschmidt 2015, a geochemistry conference, (Czech Republic; Aug. 16-21). The proof-of-principle has been validated in a series of small studies on bedridden individuals, NASA astronauts in space, rats, and patients with MM. Variant Identified With Large Effect on Bone Density, Fracture Risk Researchers identified a novel, low-frequency, non-coding genetic variant that is associated with large effects on bone mineral density (BMD) and fracture risk in individuals of European ancestry, according to a letter published online Sept. 14 in Nature. What’s more, the study, the largest population genome sequencing effort to date, demonstrates the value of whole-genome sequencing (WGS) in large populations to identify variants tied to complex traits and disease in the general population. In the current population-based study the researchers conducted WGS in 2,882 participants from UK10K, whole-exome sequencing (3,549 participants in five cohorts), deep imputation of genotyped samples using a combined UK10K/1000 Genomes reference panel (26,534), and de novo replication genotyping (20,271). A low-frequency non-coding variant near a […]