Nguyen T V, Eisman J A
Bone and Mineral Research Program, Garvan Institute of Medical Research, Sydney, Australia.
J Musculoskelet Neuronal Interact. 2006 Jan-Mar;6(1):62-72.
The genetics of osteoporosis can be considered in two broad areas: disease susceptibility and drug activity. While the former has been studied, the latter is still largely untouched. Pharmacogenomics is the utilization of genetic information to predict outcome of drug treatment, with respect to both beneficial and adverse effects. The pharmacotherapy of osteoporosis is characterized by variability in therapeutic response with limited prediction of response on a patient-by-patient basis. This is particularly problematic in a clinical situation where therapy is typically required for several years before outcomes can be evaluated for an individual. Thus, the emerging field of pharmacogenomics holds great potential for refining and optimising pharmacological treatment of osteoporosis. Key components for future development of the pharmacogenomics of osteoporosis should include improved understanding of mechanisms of drug action, identification of candidate genes and their variants and expansion of clinical trials to include genetic profiling. This approach could provide clinicians and scientists with powerful tools to dissect novel molecular pathways involved in osteoporosis and to identify new drug targets. The iterative combination of innovative genomics with classical endocrinological approaches in osteoporosis research can be examined as a model of biological research and innovate therapeutical approaches in a continuing interaction between clinical science and basic research.
疾病易感性和药物活性。虽然前者已得到研究，但后者在很大程度上仍未涉及。药物基因组学是利用遗传信息来预测药物治疗的结果，包括有益和有害影响。骨质疏松症的药物治疗特点是治疗反应存在变异性，且难以逐个患者地预测反应。在临床情况下，这一问题尤为突出，因为通常需要数年治疗才能评估个体的治疗效果。因此，新兴的药物基因组学领域在优化和完善骨质疏松症的药物治疗方面具有巨大潜力。骨质疏松症药物基因组学未来发展的关键要素应包括更深入地了解药物作用机制、识别候选基因及其变体，以及扩大临床试验以纳入基因谱分析。这种方法可为临床医生和科学家提供强大工具，以剖析参与骨质疏松症的新分子途径并识别新的药物靶点。在骨质疏松症研究中，创新基因组学与经典内分泌学方法的迭代结合可作为生物学研究的模型，并在临床科学与基础研究的持续互动中创新治疗方法。
