Department of Endocrinology and Metabolism, Shanghai First People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, China.
Front Biosci (Landmark Ed). 2013 Jun 1;18(3):1088-97. doi: 10.2741/4165.
Osteoporosis is a common disease characterized by low bone mass, microarchitectural deterioration of bone tissue and an increased risk of fracture. Population-based and case-control studies have identified polymorphisms in several candidate genes that have been associated with bone mass or osteoporotic fracture, including the vitamin D receptor (VDR), estrogen receptor (ER), oestrogen α receptor (ESR), transforming growth factor (TGF)-β, and type I collagen. The Wnt signaling and receptor activator of nuclear factor κB (RANK)/RANK ligand (RANK-L)/osteoprotegerin (OPG) pathways have been shown to play critical roles in determining bone mass and strength. An important aim of future work will be to further clarify the mechanisms involved in the interaction between candidate genes and environmental variables leading to osteoporosis via signaling pathways in individual patients. Hence preventative therapy, particularly gene therapy, could be targeted in patients at greatest risk of osteoporosis.
骨质疏松症是一种常见的疾病，其特征是骨量低、骨组织微观结构恶化以及骨折风险增加。基于人群的病例对照研究已经确定了几个候选基因中的多态性，这些基因与骨量或骨质疏松性骨折有关，包括维生素 D 受体 (VDR)、雌激素受体 (ER)、雌激素 α 受体 (ESR)、转化生长因子 (TGF)-β 和 I 型胶原。Wnt 信号通路和核因子 κB 受体激活剂 (RANK)/RANK 配体 (RANK-L)/骨保护素 (OPG) 途径已被证明在决定骨量和骨强度方面发挥着关键作用。未来工作的一个重要目标将是进一步阐明候选基因与环境变量之间相互作用的机制，这些机制通过个体患者的信号通路导致骨质疏松症。因此，预防性治疗，特别是基因治疗，可以针对骨质疏松症风险最大的患者。
