Jin Huilin, Ralston Stuart H
University of Aberdeen Medical School, Department of Medicine and Therapeutics, University of Aberdeen, AB25 2ZD, UK.
Curr Rheumatol Rep. 2005 Mar;7(1):66-70. doi: 10.1007/s11926-005-0011-1.
Genetic factors play an important role in regulating bone mineral density and other phenotypes relevant to the pathogenesis of osteoporosis such as ultrasound properties of bone, skeletal geometry, and bone turnover. Progress has been made in identifying quantitative traits for regulation of bone mineral density by linkage studies in man and mouse, but relatively few causal genes have been identified. Dramatic progress has been made in identifying the genes responsible for monogenic bone diseases and it appears that polymorphisms in many of these genes also play a role in regulating bone mineral density in the general population. Advances in knowledge about the genetic basis of osteoporosis and other bone diseases offer the prospect of developing new markers for assessment of fracture risk and the identification of novel molecular targets for the design of new drug treatments for osteoporosis.
遗传因素在调节骨矿物质密度以及与骨质疏松症发病机制相关的其他表型（如骨的超声特性、骨骼几何形状和骨转换）方面发挥着重要作用。通过人类和小鼠的连锁研究，在确定调节骨矿物质密度的数量性状方面取得了进展，但已确定的因果基因相对较少。在确定导致单基因骨病的基因方面取得了显著进展，而且似乎这些基因中的许多基因的多态性在调节普通人群的骨矿物质密度方面也发挥着作用。关于骨质疏松症和其他骨病遗传基础的知识进展为开发评估骨折风险的新标志物以及确定用于设计骨质疏松症新药治疗的新分子靶点提供了前景。
