Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes.
Gregson CL, Newell F, Leo PJ et al.
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Abstract
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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.
232 European ancestry high BMD individuals, 1,026 European ancestry moderate high BMD individuals, 852 European ancestry low BMD individuals
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