ba0001pp31 | Bone biomechanics and quality | ECTS2013
Gregson Celia L
, Leo Leo Paul J
, Clark Graeme R
, Smith George Davey
, Brown Matthew A
, Tobias Jon H
, Duncan Duncan Emma L
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 <...