Genetic regulation of hip geometry, structure and fracture

髋关节几何形状、结构和骨折的遗传调控

• 批准号: nhmrc : 343603
• 负责人: A/Pr Scott Wilson
• 金额: $ 26.91万
• 依托单位: Sir Charles Gairdner Hospital
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2005
• 资助国家: 澳大利亚
• 起止时间: 2005-01-01 至 2007-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/genetic-regulation-hip-structure-fracture/95859
• 关键词: Genetic; regulation; hip; geometry; structure

Osteoporotic hip fracture is common in the elderly and a major cause of hospitalization. Hip fracture may lead to surgery, chronic reduced mobility, loss of function, institutionalization or death. The term osteoporosis covers a heterogeneous syndrome including juvenile, secondary (e.g. corticosteroid induced) and postmenopausal osteoporosis. This later broad grouping shows evidence of a strong familial association. Previous work has shown that a family history of fracture increases the risk of fracture by more than four fold. Furthermore, studies in twins have persistently shown that phenotypes such as bone mineral density (BMD), broadband ultrasound attenuation of bone and hip structural indices are strongly inherited. This confirms a genetic basis for the disease in some individuals. Community health in general has improved substantially in Australia in the past four decades and this has resulted in increased longevity. In contrast, the incidence of hip fracture and the resulting drain on public health funding continues to increase rapidly. Presently the cost of osteoporosis in Australia is $7.5 billion per annum. Hip fracture accounts for the majority of these costs. Instituting effective prevention strategies is essential. This project aims to contribute to one of Australia's National Research Pritoities by improving understanding about the way in which inherited aspects of hip geometry and structure contribute to the hip fracture susceptibility. We have successfully completed genome screen projects studying genetic linkage in the families to localize genes regulating BMD in the past. However, BMD is only one of a number of relevant phenotypes. In relation to hip fracture, geometry and structure are thought to be particularly important. In this project we will make use of existing resources to advance studies of both genetic linkage and association to examine fundamental issues related to hip facture.

骨质疏松性髋部骨折在老年人中很常见，也是住院治疗的主要原因。髋部骨折可能导致手术、慢性活动能力下降、功能丧失、住院或死亡。术语骨质疏松症涵盖异质性综合征，包括青少年、继发性（例如皮质类固醇诱导的）和绝经后骨质疏松症。后一个广泛的分组显示了强烈的家族关联的证据。以前的研究表明，骨折家族史使骨折风险增加四倍以上。此外，对双胞胎的研究一直表明，骨密度（BMD）、骨的宽带超声衰减和髋关节结构指数等表型具有很强的遗传性。这证实了某些个体中疾病的遗传基础。过去四十年来，澳大利亚的社区健康状况总体上有了大幅改善，从而延长了寿命。相比之下，髋部骨折的发病率和由此造成的公共卫生资金流失继续迅速增加。目前，澳大利亚每年骨质疏松症的费用为75亿澳元。髋部骨折占这些费用的大部分。制定有效的预防战略至关重要。该项目旨在通过提高对髋关节几何形状和结构的遗传方面对髋关节骨折易感性的方式的理解，为澳大利亚的国家研究Pritoities之一做出贡献。我们已经成功地完成了基因组筛选项目，研究家庭中的遗传连锁定位基因调控BMD在过去。然而，BMD只是许多相关表型之一。对于髋部骨折，几何形状和结构被认为是特别重要的。本研究将利用现有的资源，对遗传连锁和关联进行深入研究，以探讨与髋关节骨折相关的基本问题。