激素性股骨头坏死易感基因的研究进展

糖皮质激素类药物应用广泛,但长期或大剂量使用易发生严重的不良反应,其中激素诱导性股骨头坏死(steroid-induced osteonecrosis of femoral head, SONFH)因骨细胞和骨髓渐进性坏死,最终导致股骨头结构改变及塌陷,致残率高,严重降低患者的生活质量。目前SONFH的预防和治疗手段有限,且发生机制尚不清楚。近年来发现SONFH的发生与血液凝溶系统、脂质代谢、药物代谢转运系统等相关基因的遗传多态性密切相关。本研究通过综述近年来与SONFH相关的基因组学研究,为筛选SONFH的易感人群提供重要的遗传学参考,为SONFH的预防和治疗提供可能的靶点。

Genetic Variations Associated with Glucocorticoid-Induced Osteonecrosis of the Femoral Head

Glucocorticoids are widely used in clinic, whereas there are severe adverse reactions in association with the long-term or high-dose application of glucocorticoids. Steroid-induced osteonecrosis of femoral head(SONFH) characterized by progressive necrosis of bone cells and bone marrow results in structural changes and collapse of the femoral head, and eventually leads to high disability rate and a poor quality of life. Up to now, the pathogenesis of SONFH is unclear, moreover the means of prevention and treatment are limited. In recent years, it has been found that the occurrence of SONFH is closely related to genetic polymorphism involved in blood coagulation system, lipid metabolism, drug metabolism and transport system. This review presents a summary of studies of SONFH in genomics to provide critical genetic information for screening the populations who are more prone to suffer SONFH, and offer possible targets for prevention and treatment of SONFH.