Searchable abstracts of presentations at key conferences on calcified tissues

ba0003lb1 | (1) | ECTS2014

Endochrondral ossification, mesenchymal stem cell and Wnt pathway specific loci predict differential skeletal effects in high bone mass

Gregson Celia , Kemp John , Marshall Mhairi , Smith George Davey , Brown Matthew , Duncan Emma , Tobias Jon

Extreme high bone mass (HBM) may be monogenic (e.g. LRP5 mutations) or polygenic, due to variants in the same genes determining bone mineral density (BMD) as found in the general population. We aimed to determine how variation in established BMD loci, in different functional pathways, explains the HBM phenotype.241 unexplained HBM cases (lumbar spine(LS)1+total hip(TH) Z-scores≥+4.4) were recruited from 15 UK centres, by screening...