GENETICS OF OSTEOPOROSIS IN OLD ORDER AMISH

老阿米什人骨质疏松症的遗传学

• 批准号: 6281960
• 负责人: JAY Robert SHAPIRO
• 金额: $ 5.69万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-07-10 至 1998-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6281960
• 关键词: bone density; clinical research; diet; estrogens; ethnic group; family genetics; genetic mapping; genetic susceptibility; hormone regulation /control mechanism; human population genetics; human subject; nutrition related tag; osteoporosis; phenotype; testosterone

Osteoporosis ranks as a major public health problem in the United States. Estimates are that by the year 2050, the incidence of this disabling disorder will significantly increase both in terms of the numbers of women and men affected, and an escalating cost of patient care. Several studies indicate that genetic factors play a major role in the development of osteoporosis both in terms of peak young adult bone mass and perhaps in the rates of bone loss with age. The data also suggests that osteoporosis is a complex disorder, and that several genes interact to set the stage for bone loss with advancing age and in certain younger individuals. The Old Order Amish of Lancaster County, Pennsylvania, are a homogeneous population that is ideal for the identification of osteoporosis susceptibility genes by positional cloning methodology. Probands will be ascertained based on the occurrence of vertebral or hip fracture. Males with idiopathic primary osteoporosis are also a target population for the identification of these genes. Phenotype analysis will include measurements of bone mineral density, family history, dietary analysis, and history of exposure to estrogen and testosterone. Genome-wide scans for osteoporosis susceptibility genes will be accomplished by Gene/Networks, Allemeda, CA, using high throughput automated methods to construct a 10 centimorgan map. Identification of osteoporosis susceptibility genes would be crucial in planning strategies for identification of persons at risk, and for developing effective therapeutic interventions.

骨质疏松症在美国是一个主要的公共健康问题。 据估计，到2050年， 无论是从女性的数量上还是从女性的数量上， 以及不断上升的病人护理成本。几项研究 表明遗传因素在发育中起主要作用， 骨质疏松症，无论是在高峰年轻成人骨量，也许在 随年龄增长的骨质流失率。数据还表明骨质疏松症 是一种复杂的疾病，几个基因相互作用， 随着年龄的增长和某些年轻人的骨质流失。的 宾夕法尼亚州兰开斯特县的阿米什人是一个同质的 适合诊断骨质疏松症的人群 易感基因的定位克隆方法。先证者将是 根据脊椎或髋部骨折的发生情况确定。男性 特发性原发性骨质疏松症患者也是 识别这些基因。表型分析将包括 骨密度测量，家族史，饮食分析， 以及接触过雌激素和睾丸激素全基因组扫描 对于骨质疏松症易感基因将完成 Gene/Networks，Allemeda，CA，使用高通量自动化方法， 绘制一张10厘摩的地图骨质疏松症的诊断 易感基因将是至关重要的规划战略， 查明处境危险的人，并制定有效的 治疗干预。