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首页> 外文期刊>The Journal of Musculoskeletal and Neuronal Interactions >Genetic research in osteoporosis: Where are we? Where should we go next?
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Genetic research in osteoporosis: Where are we? Where should we go next?

机译：骨质疏松症的基因研究：我们在哪里？接下来我们应该去哪里？

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摘要

Fractures resulting from low bone mass and excessive skeletal fragility (osteoporosis) are common worldwide both in males and females, particularly in later years of life. Both fractures, and the most important predictor of fractures, bone mass, are now known to be strongly heritable. This fact, plus the current growth in genetic science, has led to a surge of genetic research in osteoporosis, mostly in the search for genes and their polymorphisms that are responsible for variation in bone mass. Finding the genetic basis underlying variation in bone mass will lead us to deeper understanding of the biology of bone mass accumulation, maintenance and adaptation to load. This, plus finding the genetic basis for overall variation in fracture risk per se, will facilitate the development of interventions, both pharmaceutical and non-pharmaceutical, to prevent and/or treat osteoporosis successfully. This research has produced a rather large number of gene loci that seem to influence bone mass. The challenge now is to refine the statistical genetics and the phenotypes involved so that we can confidently identify those gene loci that truly influence bone mass, and to find ways to study the genetic basis for the most direct disease outcome of interest, fracture.
机译：低骨量和过度骨骼脆性（骨质疏松症）引起的骨折在全世界男性和女性中都很普遍，尤其是在生命的晚年。众所周知，这两种骨折以及最重要的骨折预测指标是骨量。这个事实，加上目前遗传科学的发展，导致了骨质疏松症的遗传研究激增，主要是在寻找导致骨量变化的基因及其多态性。寻找骨量变化的遗传基础将使我们对骨量积累，维持和适应负荷的生物学有更深入的了解。这加上寻找骨折风险本身总体变化的遗传基础，将有助于药物和非药物干预措施的发展，以成功地预防和/或治疗骨质疏松症。这项研究已经产生了相当数量的似乎影响骨量的基因位点。现在的挑战是完善统计遗传学和涉及的表型，以便我们可以自信地确定那些真正影响骨量的基因位点，并找到方法来研究感兴趣的最直接疾病结局-骨折的遗传基础。

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