Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.
Curr Osteoporos Rep. 2024 Jun;22(3):308-317. doi: 10.1007/s11914-024-00870-6. Epub 2024 Apr 11.
The purpose of this review is to outline the principles of clinical genetic testing and to provide practical guidance to clinicians in navigating genetic testing for patients with suspected monogenic forms of osteoporosis.
Heritability assessments and genome-wide association studies have clearly shown the significant contributions of genetic variations to the pathogenesis of osteoporosis. Currently, over 50 monogenic disorders that present primarily with low bone mass and increased risk of fractures have been described. The widespread availability of clinical genetic testing offers a valuable opportunity to correctly diagnose individuals with monogenic forms of osteoporosis, thus instituting appropriate surveillance and treatment. Clinical genetic testing may identify the appropriate diagnosis in a subset of patients with low bone mass, multiple or unusual fractures, and severe or early-onset osteoporosis, and thus clinicians should be aware of how to incorporate such testing into their clinical practices.
本文旨在概述临床基因检测的原则，并为临床医生为疑似单基因骨质疏松症患者进行基因检测提供实用指导。
遗传率评估和全基因组关联研究清楚地表明遗传变异对骨质疏松症发病机制的重要贡献。目前，已描述了 50 多种主要表现为低骨量和骨折风险增加的单基因疾病。临床基因检测的广泛应用为正确诊断单基因骨质疏松症患者提供了宝贵的机会，从而进行适当的监测和治疗。临床基因检测可在一部分低骨量、多发性或不寻常骨折、严重或早发性骨质疏松症患者中确定适当的诊断，因此临床医生应了解如何将此类检测纳入其临床实践。
