Genetic Factors for Osteoporosis

骨质疏松症的遗传因素

• 批准号: nhmrc : 519776
• 负责人: Prof Matthew Brown
• 金额: $ 54.05万
• 依托单位: The University of Queensland
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Strategic Awards
• 财政年份: 2009
• 资助国家: 澳大利亚
• 起止时间: 2009-01-01 至 2012-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/genetic-factors-osteoporosis/97788
• 关键词: Genetic; Factors; Osteoporosis

Osteoporosis is a common condition in which bone strength is reduced due to reduced amount and quality of bone. Reduced bone strength means an increased risk of fracture. Osteoporotic fractures occur in 1 in 2 women and 1 in 3 men in their lifetime, and the likelihood of suffering osteoporotic fracture increases with age. Most of the risk of developing osteoporosis is genetic, but few of the genes involved have been identified. Our goal is to identify those genes. We will complete recruitment and assessment of a cohort of 1500 postmenopausal women with either low or high bone mineral density from pre-existing population cohorts in Australia. A genomewide association study will then be performed on these cases. Associated genes in different datasets will then be investigated further in our cohort, and high-density SNP mapping performed to identify true associated variants. These studies should identify most genetic variants associated with BMD variation and low trauma fracture in the general community, allowing development of diagnostic-disease predictive genetic tests, and informing development of novel therapeutic agents for osteoporosis.

骨质疏松症是一种常见的情况，在这种情况下，由于骨骼的数量和质量减少，骨骼强度降低。骨强度降低意味着骨折的风险增加。骨质疏松性骨折的发生率在女性和男性中分别为1 / 2和1 / 3，随着年龄的增长，骨质疏松性骨折的可能性也在增加。患骨质疏松症的大部分风险是遗传的，但很少有相关基因被确定。我们的目标是识别这些基因。我们将从澳大利亚已有的人口队列中招募和评估1500名骨密度低或高的绝经后妇女。然后将对这些病例进行全基因组关联研究。不同数据集中的相关基因将在我们的队列中进一步研究，并进行高密度SNP定位以确定真正的相关变异。这些研究应该在普通社区中确定与骨密度变化和低创伤性骨折相关的大多数遗传变异，从而开发诊断疾病的预测性基因测试，并为开发骨质疏松症的新型治疗药物提供信息。