摘要
目的 综述酒精性股骨头坏死(alcohol-induced osteonecrosis of the femoral head,AIONFH)发病机制和基因学研究进展。方法 广泛查阅国内外相关文献,阐述AIONFH的发病机制以及基因多态性与其易感性之间的关系,并总结疾病进展的相关因素以及近年研究的潜在药物和治疗靶点。结果 AIONFH是由过量饮酒引起的一种难治性骨科疾病,致残率高,严重影响患者日常生活。AIONFH发病机制包括脂质代谢紊乱、内皮功能障碍、骨稳态失衡等,基因多态性以及非编码RNA等也参与其中。AIONFH发生过程中涉及的血液学指标及分子改变,可能作为疾病早期诊断标志物及潜在治疗靶点。结论 AIONFH发病机制尚未完全阐明,基于遗传学的研究包括基因多态性、非编码RNA等,结合二代测序技术,有望为将来进行机制研究以及发现潜在治疗靶点提供方向。
Objective To review the research progress of pathogenesis and genetics of alcohol-induced osteonecrosis of the femoral head(AIONFH).Methods The relevant domestic and foreign literature in recent years was extensively reviewed.The pathogenesis,the relationship between gene polymorphism and susceptibility,the related factors of disease progression,and the potential therapeutic targets of AIONFH were summarized.Results AIONFH is a refractory orthopedic disease caused by excessive drinking,seriously affecting the daily life of patients due to its high disability rate.The pathogenesis of AIONFH includes lipid metabolism disorder,endothelial dysfunction,bone homeostasis imbalance,and et al.Gene polymorphism and non-coding RNA are also involved.The hematological and molecular changes involved in AIONFH may be used as early diagnostic markers and potential therapeutic targets of the disease.Conclusion The pathogenesis of AIONFH has not been fully elucidated.Research based on genetics,including gene polymorphism and non-coding RNA,combined with next-generation sequencing technology,may provide directions for future research on the mechanism and discovery of potential therapeutic targets.
作者
陈伟
卿黎明
吴攀峰
唐举玉
CHEN Wei;QING Liming;WU Panfeng;TANG Juyu(Department of Orthopedic Surgery,Xiangya Hospital Central South University,Changsha Hunan,410008,P.R.China)
出处
《中国修复重建外科杂志》
CAS
CSCD
北大核心
2022年第11期1420-1427,共8页
Chinese Journal of Reparative and Reconstructive Surgery
基金
国家自然科学基金资助项目(81871577)。
关键词
酒精性股骨头坏死
发病机制
基因学
Alcohol-induced osteonecrosis of the femoral head
pathogenesis
genetics