The role of genomic copy number variation in regulation of bone disease phenotypes

在过去的15年里，我们一直致力于确定与骨质疏松症相关的关键临床性状的数量性状基因座，并取得了巨大的成功。我们最近完成了一项全基因组关联研究，并确定了20个基因座，这些基因座在关键骨疾病表型的调节中具有强有力的证据。在这个项目中，我们将扩展这一备受赞誉的研究，研究基因组拷贝数变异，并确定这些遗传变异在骨质疏松症中的作用。

We have been working to identify quantitative trait loci for key clinical traits relevant to osteoporosis, for the past 15 years, with substantial success. We recently completed a Genome Wide Association Study and identified 20 loci with strong evidence for a role in the regulation of key bone disease phenotypes. In this project we will extend that highly acclaimed research to study genomic copy number variation and define the role of those genetic variants in osteoporosis.