Marini Francesca, Brandi Maria Luisa
Department of Internal Medicine, University of Florence, Viale Pieraccini, 6, 50139 Florence, Italy.
Int J Hypertens. 2010 Mar 25;2010:394579. doi: 10.4061/2010/394579.
Osteoporosis is the most common and serious age-related skeletal disorder, characterized by a low bone mass and bone microarchitectural deterioration, with a consequent increase in bone fragility and susceptibility to spontaneous fractures, and it represents a major worldwide health care problem with important implications for health care costs, morbidity and mortality. Today is well accepted that osteoporosis is a multifactorial disorder caused by the interaction between environment and genes that singularly exert modest effects on bone mass and other aspects of bone strength and fracture risk. The individuation of genetic factors responsible for osteoporosis predisposition and development is fundamental for the disease prevention and for the setting of novel therapies, before fracture occurrence. In the last decades the interest of the Scientific Community has been concentrated in the understanding the genetic bases of this disease but with controversial and/or inconclusive results. This review tries to summarize data on the most representative osteoporosis candidate genes. Moreover, since recently osteoporosis and cardiovascular diseases have shown to share common physiopathological mechanisms, this review also provides information on the current understanding of osteoporosis and cardiovascular diseases common genetic bases.
骨质疏松症是最常见且最严重的与年龄相关的骨骼疾病，其特征为骨量低和骨微结构恶化，进而导致骨脆性增加以及易发生自发性骨折，它是一个全球性的重大医疗保健问题，对医疗成本、发病率和死亡率具有重要影响。如今，人们普遍认为骨质疏松症是一种多因素疾病，由环境与基因之间的相互作用引起，这些因素单独对骨量以及骨强度和骨折风险的其他方面产生适度影响。在骨折发生之前，确定导致骨质疏松症易感性和发展的遗传因素对于疾病预防和新疗法的制定至关重要。在过去几十年中，科学界的兴趣集中在了解该疾病的遗传基础，但结果存在争议和/或尚无定论。本综述试图总结关于最具代表性的骨质疏松症候选基因的数据。此外，由于最近已表明骨质疏松症和心血管疾病具有共同的生理病理机制，本综述还提供了关于目前对骨质疏松症和心血管疾病共同遗传基础的理解的信息。
