Article
Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes.
Bone - 1 Sept 2018
Gregson Celia L, Newell Felicity, Leo Paul J, Clark Graeme R, Paternoster Lavinia, Marshall Mhairi, Forgetta Vincenzo, Morris John A, Ge Bing, Bao Xiao, Duncan Bassett J H, Williams Graham R, Youlten Scott E, Croucher Peter I, Davey Smith George, Evans David M, Kemp John P, Brown Matthew A, Tobias Jon H, Duncan Emma L
Abstract excerpt
BACKGROUND: 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. METHODS: We performed a genome-wide association...
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