GENETIC STUDIES OF BONE DENSITY AND RELATED PHENOTYPES

骨密度和相关表型的遗传学研究

• 批准号: 6098093
• 负责人: JOE C CHRISTIAN
• 金额: $ 24.16万
• 依托单位: INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-09-01 至 1999-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6098093
• 关键词: African American; aging; biomarker; bone density; bone metabolism; caucasian American; disease /disorder proneness /risk; family genetics; female; genetic markers; genetic polymorphism; genotype; human genetic material tag; human subject; linkage mapping; osteoporosis; phenotype; photon absorptiometry; polymerase chain reaction; racial /ethnic difference; siblings; young adult human (21-34)

The primary objective of this project is to search for genes associated with peak bone density as a risk factor for osteoporotic fractures. Primary osteoporosis is characterized by increased susceptibility to fractures. A potentially modifiable risk factor for osteoporotic fractures is low bone density. Preliminary studies have indicated that the majority of variation in peak bone density is determined by genetic factors and there are significant genetic factors influencing skeletal architecture which are also related to the risk for osteoporotic fractures. These studies will therefore concentrate upon the search for genetic factors which determine peak bone density and skeletal architecture. Past studies have concentrated on twins to estimate heritability and search for evidence of the modes of inheritance of these osteoporosis risk factors. We have recently begun a study of sibling pairs (sibpairs) to begin a genome wide search for genetic markers linked to bone density, skeletal architecture and intermediate phenotypes related to bone metabolism. Positive findings will map loci which are in close proximity to or within genes which influence these quantitative traits. We plan to extend studies of approximately 200 Caucasian, adult, female sibpairs begun in the 09 and 10 years of the present granting period with the addition of 300 more Caucasian sibpairs and 250 African American sibpairs during years 11 through 15 of the project. The genetic markers being used are the highly informative (dC-dA)n.(dC-dT)n microsatellites.

该项目的主要目的是搜索相关的基因 峰值骨密度是骨质疏松性骨折的危险因素。 原发性骨质疏松的特征是对 断裂。骨质疏松性骨折的潜在可修改风险因素 是低骨密度。初步研究表明大多数 峰骨密度变化的变异是由遗传因素和 有重要的遗传因素影响骨骼结构 这也与骨质疏松骨折的风险有关。这些 因此，研究将集中于寻找遗传因素 确定峰值骨密度和骨骼结构。过去的研究 已经集中在双胞胎上以估计遗传力并寻找 这些骨质疏松症风险因素的遗传模式的证据。 我们最近开始研究兄弟姐妹对（sibpairs）以开始 基因组广泛搜索与骨密度，骨骼相关的遗传标记 与骨代谢有关的结构和中间表型。 积极的发现将绘制与与内部或内部密切相近的基因座 影响这些定量性状的基因。我们计划扩展研究 大约200名高加索人，成人，女性sibpairs从09开始， 在当前授予期的10年，再增加300年 高加索人sibpairs和250个非裔美国人sibpairs在11年内 通过该项目的15个。使用的遗传标记是高度 信息性（DC-DA）n。（DC-DT）N微卫星。