Bone Abstracts

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...

see PP31....

Extreme high bone mass (HBM) may be monogenic (e.g. due to mutations in SOST or LRP5) or polygenic, due to variants in the same genes determining bone mineral density (BMD) as found in the general population. We aimed to determine the genetic cause underlying HBM in an extreme HBM population.258 unexplained HBM cases (defined as L1 Z-score ≥+3.2 plus total hip Z-score ≥+1.2, or total hip Z-score ≥+3.2 and L1 <...