Marini Francesca, Brandi Maria Luisa
a Metabolic Bone Unit, Department of Internal Medicine, University of Florence, Viale Pieraccini, 6 50139 Florence, Italy.
b
Expert Rev Endocrinol Metab. 2010 Nov;5(6):905-910. doi: 10.1586/eem.10.67.
Osteoporosis is the most common and serious skeletal disorder of the elderly; it is characterized by reduced bone mass and deterioration of bone microarchitecture, with an increased risk of low-trauma fractures. Genetic factors are important predisposing elements influencing individual bone strength variability and susceptibility to osteoporosis and related complications. The genetics of osteoporosis encompasses two main areas: disease susceptibility and pharmacogenetics of drug response. The former has been widely studied while the latter is still largely untouched. Pharmacogenetics is the study of relationships between genetic variations and inter-individual differences in drug response in terms of efficacy and adverse effects, representing an opportunity to identify new biomarkers for drug development and drug response. However, pharmacogenetic approaches to osteoporosis are still in their infancy, needing to be developed further and combined with functional studies. This article provides an overview on the current basic research applications in the pharmacogenetics of osteoporosis and their implications for clinical practice.
骨质疏松症是老年人中最常见且最严重的骨骼疾病；其特征是骨量减少和骨微结构退化，低创伤骨折风险增加。遗传因素是影响个体骨强度变异性以及骨质疏松症和相关并发症易感性的重要易感因素。骨质疏松症的遗传学涵盖两个主要领域：疾病易感性和药物反应的药物遗传学。前者已得到广泛研究，而后者在很大程度上仍未涉及。药物遗传学是研究基因变异与药物反应在疗效和不良反应方面个体差异之间的关系，为识别药物开发和药物反应的新生物标志物提供了契机。然而，骨质疏松症的药物遗传学方法仍处于起步阶段，需要进一步发展并与功能研究相结合。本文概述了骨质疏松症药物遗传学当前的基础研究应用及其对临床实践的意义。
