Genetic regulation of bone mass: from bone density to bone strength
Genetic regulation of bone mass: from bone density to bone strength
复制标题
骨量的基因调控：从骨密度到骨强度
DOI：
--
复制
发表时间：
2005
期刊：
影响因子：
--
通讯作者：
C. Langman
中科院分区：
文献类型：
--
作者：
C. Langman
骨质疏松症是一种常见的疾病，其特征是成年人骨密度降低。骨骼是一种在整个生命过程中进化和生长的器官，在儿童和青少年时期建立最佳的骨密度有助于缓冲以后的骨质流失。骨密度是一个可测量的实体，是骨强度或抵抗骨折的能力的临床替代物。慢性疾病可能会对最佳峰值骨密度产生不利影响。骨密度受遗传控制，这是由三个方面的调查所揭示的。这些发现包括：（1）发现了骨密度的数量性状基因座，（2）发现了在成骨细胞或破骨细胞谱系发育中重要的基因的特定突变改变了骨密度，以及（3）已知的参与矿物质稳态的基因多态性与骨密度和/或骨折的联系。未来用于改善峰值骨密度或延迟骨丢失的治疗方法可能会利用骨密度发育的遗传性质。
Osteoporosis is a common disease characterized in adults by diminished bone density. Bone is an organ that evolves and grows throughout life, and establishing optimal bone density in childhood and adolescence serves to buffer bone loss later in life. Bone density, a measurable entity, is the clinical substitute for bone strength, or the ability to defend against fracture. Chronic diseases may adversely affect optimal peak bone density. Bone density is under genetic control, as revealed by three lines of investigations. These include (1) the finding of quantitative trait loci for bone density, (2) the finding that specific mutations in genes that are important in the development of osteoblast or osteoclast lineages alter bone density, and (3) the linkeage of known polymorphisms for genes involved in mineral homeostasis to bone density and/or fracture. Future therapeutics for improving peak bone density or delaying bone loss later in life may take advantage of the genetic nature of bone density development.
基因组筛选导致骨矿物质密度和骨质疏松症正常变化的 QTL。
DOI：
10.1210/jcem.85.9.6778
发表时间：
2000
期刊：
The Journal of clinical endocrinology and metabolism.
影响因子：
--
作者：
Koller,DL;Econs,MJ;Morin,PA;Christian,JC;Hui,SL;Parry,P;Curran,ME;Rodriguez,LA;Conneally,PM;Joslyn,G;Peacock,M;Johnston,CC;Foroud,T
通讯作者：
Foroud,T
影响因子：
158.5
作者：
Boyden, LM;Mao, JH;Lifton, RP
通讯作者：
Lifton, RP
影响因子：
5.8
作者：
Deng, HW;Xu, FH;Recker, RR
通讯作者：
Recker, RR