Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp31 | Bone biomechanics and quality | ECTS2013

A GWAS in an extreme high bone mass population shows excess signal from genes associated with BMD in the normal population

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 <...