Osteoporosis is a common skeletal disease, affecting ~200 million people around the world. As a complex disease, osteoporosis is influenced by many factors, including diet (e.g. calcium and protein intake), physical activity, endocrine status, coexisting diseases and genetic factors. In this review, we first summarize the discovery from genome-wide association studies (GWASs) in the bone field in the last 12 years. To date, GWASs and meta-analyses have discovered hundreds of loci that are associated with bone mineral density (BMD), osteoporosis, and osteoporotic fractures. However, the GWAS approach has sometimes been criticized because of the small effect size of the discovered variants and the mystery of missing heritability, these two questions could be partially explained by the newly raised conceptual models, such as omnigenic model and natural selection. Finally, we introduce the clinical use of GWAS findings in the bone field, such as the identification of causal clinical risk factors, the development of drug targets and disease prediction. Despite the fruitful GWAS discoveries in the bone field, most of these GWAS participants were of European descent, and more genetic studies should be carried out in other ethnic populations to benefit disease prediction in the corresponding population.

骨质疏松症是一种常见的骨骼疾病，全世界约有2亿人受到影响。骨质疏松症是一种复杂的疾病，受多种因素影响，包括饮食（例如钙和蛋白质的摄入），身体活动，内分泌状况，并存疾病和遗传因素。在这篇综述中，我们首先总结了过去12年中在骨领域进行的全基因组关联研究（GWAS）的发现。迄今为止，GWAS和荟萃分析已经发现了数百个与骨矿物质密度（BMD），骨质疏松症和骨质疏松性骨折相关的位点。但是，由于发现的变体的影响量较小和遗漏遗传力的奥秘，有时会批评GWAS方法，这两个问题可以由新提出的概念模型部分解释，例如全能模型和自然选择。最后，我们介绍了GWAS研究结果在骨领域的临床应用，例如确定因果关系的临床危险因素，开发药物靶标和疾病预测。尽管在骨领域发现了富有成效的GWAS，但这些GWAS参与者中的大多数是欧洲血统，应该在其他种族人群中进行更多的遗传研究，以使相应人群中的疾病预测受益。