Genetics of aging bone.
Genetics of aging bone.
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DOI：
10.1007/s00335-016-9650-y
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发表时间：
2016-08
期刊：
影响因子：
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通讯作者：
Ackert-Bicknell CL
中科院分区：
文献类型：
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作者：
Adams DJ;Rowe DW;Ackert-Bicknell CL
随着年龄的增长，骨骼会经历许多变化，包括质量减少和基质成分变化，导致脆性，最终增加骨折风险。骨生理的许多方面是由遗传因素控制的，包括峰值骨量、骨形状和成分；然而，人类的未来遗传学研究主要集中在临床可用的指标，如骨密度(BMD)。啮齿动物的未来遗传学研究也主要集中在骨密度上；然而，对骨骼强度、大小和形状的直接测量也进行了调查。绝大多数情况下，这些关于骨强度的遗传学研究已经确定了通过影响骨大小来调节强度的基因座，而可能不会影响骨的基质材料特性。许多啮齿动物正向遗传学研究缺乏足够的图谱分辨率来识别候选基因；然而，使用遗传图谱群体(如高级杂交和协作杂交)的新研究似乎已经克服了这一问题，并显示出未来研究的前景。到目前为止，大多数进行的基因图谱研究都集中在较年轻的动物身上，因此，对与年龄相关的骨丢失的遗传控制的理解是知识上的一个关键差距。
With aging, the skeleton experiences a number of changes, which include reductions in mass and changes in matrix composition, leading to fragility and ultimately an increase of fracture risk. A number of aspects of bone physiology are controlled by genetic factors, including peak bone mass, bone shape, and composition; however, forward genetic studies in humans have largely concentrated on clinically available measures such as bone mineral density (BMD). Forward genetic studies in rodents have also heavily focused on BMD; however, investigations of direct measures of bone strength, size, and shape have also been conducted. Overwhelmingly, these studies of the genetics of bone strength have identified loci that modulate strength via influencing bone size, and may not impact the matrix material properties of bone. Many of the rodent forward genetic studies lacked sufficient mapping resolution for candidate gene identification; however, newer studies using genetic mapping populations such as Advanced Intercrosses and the Collaborative Cross appear to have overcome this issue and show promise for future studies. The majority of the genetic mapping studies conducted to date have focused on younger animals and thus an understanding of the genetic control of age-related bone loss represents a key gap in knowledge.