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

基因组拷贝数变异在骨疾病表型调节中的作用

• 批准号: nhmrc : 1010494
• 负责人: A/Pr Scott Wilson
• 金额: $ 29.25万
• 依托单位: The University of Western Australia
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2013-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/role-genomic-copy-disease-phenotypes/109497
• 关键词: role; genomic; copy; number; variation

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.

过去 15 年来，我们一直致力于确定与骨质疏松症相关的关键临床特征的数量性状位点，并取得了巨大成功。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，这些基因座有强有力的证据证明在关键骨疾病表型的调节中发挥作用。在这个项目中，我们将扩展这项广受好评的研究，以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。