非创伤性股骨头坏死相关易感基因：提高检测准确性开发治疗新途径

文题释义：非创伤性股骨头坏死：是一种骨科领域的难治性疾病，发病率极高，是由糖皮质激素或过量饮酒等非创伤性因素导致的股骨头血液中断或受损，引起骨细胞与骨髓成分死亡，导致髋关节疼痛，股骨头塌陷变形，使髋关节功能逐渐丧失的一类骨骼疾病。易感基因：所谓疾病易感性是指由遗传决定、易于患某种或某类疾病的倾向性。具有疾病易感性的人一定具有特定的遗传特征，简单地说就是带有某种疾病的易感基因组型。背景：股骨头坏死机制目前虽然有糖皮质激素、乙醇、减压病、镰刀细胞性贫血、基因易感性等一系列解释学说，但具体的发病机制仍不明确。目的：结合近期的遗传基因学研究，着重对非创伤性股骨头坏死的相关基因加以综述，目的是为股骨头修复及重塑提供新的治疗途径。方法：应用计算机检索中国知网数据库、万方数据库、PubMed数据库及Web of Science数据库收录的相关文献，以“非创伤性股骨头坏死，易感基因，发病机制”作为中文检索词，以“non-traumaticosteonecrosis of the femoral head，susceptiblegenes，pathogenesis”作为英文检索词进行检索，纳入文献日期为2000年1月至2019年4月。根据纳入标准和排除标准，排除了与文献主题不相关和重复研究的文献，最终纳入49篇文献进行综述。结果与结论：非创伤性股骨头坏死是一种极其复杂的疾病，其发病机制受到多种因素的相互作用，而非单一的遗传基因所导致。近年研究显示，COL2A1基因突变仍是与非创伤性股骨头坏死关联性最强的易感基因，而血液中的高凝与低纤溶状态相关基因位点、免疫中的白细胞介素因子相关基因位点与脂类代谢相关位点在诱导非创伤性股骨头坏死中变得越来越重要。随着人类对基因技术方面更加深入的了解，会不断提高检测易感基因的准确性，有利于非创伤性股骨头坏死的预防、诊断与个体临床化精准治疗。ORCID: 0000-0003-1359-3477(许琦)中国组织工程研究杂志出版内容重点：组织构建；骨细胞；软骨细胞；细胞培养；成纤维细胞；血管内皮细胞；骨质疏松；组织工程

Susceptibility genes related to non-traumatic femoral head necrosis: improving detection accuracy and developing new treatment strategy

BACKGROUND:Although the mechanism of femoral head necrosis has a series of explanations such as glucocorticoids,ethanol,decompression sickness,sickle cell anemia,and genetic susceptibility,the specific pathogenesis is still unclear.OBJECTIVE:To highlight the genetics of non-traumatic femoral head necrosis by combining recent genetic studies,thus providing new treatments for the repair and reconstruction of femoral head.METHODS:A computer-based online retrieval of CNKI,WanFang,PubMed and Web of Science databases was performed to search the related articles published from January 2000 to April 2019.The keywords were "non-traumatic femoral head necrosis,susceptibility genes,pathogenesis" in Chinese and English,respectively.According to the inclusion and exclusion criteria,the irrelevant and repetitive articles were excluded,and finally 49 eligible articles were included for analysis.RESULTS AND CONCLUSION:Non-traumatic femoral head necrosis is an extremely complex disease whose pathogenesis is caused by a combination of factors rather than a single genetic gene.COL2 A1 genetic mutation is the high susceptibility gene to non-traumatic femoral head necrosis.High-coagulation and low-fibrinolytic state-related loci in the blood,interleukin-related gene loci in immune system and lipid-related loci become more and more important in inducing non-traumatic femoral head necrosis.With the deep understanding of human genetic technology,the accuracy of detecting susceptible genes will be continuously improved,which is conducive to the prevention,diagnosis and precise individualized treatment of non-traumatic femoral head necrosis.