Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes

Generalised high bone mass (HBM), associated with features of a mild skeletal dysplasia, has a prevalence of 0.18% in a UK DXA-scanned adult population. We hypothesized that the genetic component of extreme HBM includes contributions from common variants of small effect and rarer variants of large effect, both enriched in an extreme phenotype cohort.

Source: Bone - June 5, 2018 Category: Orthopaedics Authors: Celia L. Gregson, Felicity Newell, Paul J. Leo, Graeme R. Clark, Lavinia Paternoster, Mhairi Marshall, Vincenzo Forgetta, John A. Morris, Bing Ge, Xiao Bao, J.H. Duncan Bassett, Graham R. Williams, Scott E. Youlten, Peter I. Croucher, George Davey Smith, Tags: Full Length Article Source Type: research