Vascular Biology Research lab, Research Institute (RI) McGill University Health Centre, C9 Montreal General Hospital, 1650 Cedar Avenue, Montreal, QC, H3G 1A4, Canada.
Department Surgery, Division Orthopaedic Surgery, McGill University Health Centre, B5 Montreal General Hospital, 1650 Cedar Avenue, Montreal, QC, H3G 1A4, Canada.
Int Orthop. 2019 Mar;43(3):519-530. doi: 10.1007/s00264-018-4172-8. Epub 2018 Oct 17.
Genetic factors and hereditary forms of osteonecrosis of the femoral head (ONFH) have been elucidated through genetic association studies. The significance of these cases is that they suggest an alternative hypothesis to the development of the disease. This review presents a summary of single nucleotide polymorphisms (SNPs) and other genetic mutation variations found in association with ONFH, including our recent identification of a novel mutation in the transient receptor potential vanilloid 4 (TRPV4) gene in association with inherited ONFH. The purpose of this review is to consolidate and categorize genetic linkages according to physiological pathways.
A systematic review of literature from PubMed and Google Scholar was undertaken with a focus on genetic linkages and hereditary case studies of the disease. Recent genetic analysis studies published after 2007 were the focus of genetic linkages in non-hereditary cases.
The summary of these genetic findings identifies biological processes believed to be involved in the development of ONFH, which include circulation, steroid metabolism, immunity, and the regulation of bone formation.
Taken together, these associations may lead to new pathways of bone repair and remodeling while opening new avenues for therapeutic targets. Knowledge of genetic variations could help identify individuals considered to be at higher risk of developing ONFH and prevent the multiple hit effect.
通过遗传关联研究，已经阐明了遗传因素和股骨头坏死（ONFH）的遗传形式。这些病例的意义在于，它们提出了一种替代疾病发展的假说。这篇综述总结了与 ONFH 相关的单核苷酸多态性（SNP）和其他基因突变，包括我们最近在与遗传性 ONFH 相关的瞬时受体电位香草素 4（TRPV4）基因中发现的一种新突变。本综述的目的是根据生理途径对遗传联系进行整合和分类。
从 PubMed 和 Google Scholar 进行了文献的系统综述，重点关注疾病的遗传联系和遗传病例研究。最近在 2007 年后发表的遗传分析研究是对非遗传性病例遗传联系的重点关注。
这些遗传发现的总结确定了被认为参与 ONFH 发展的生物过程，包括循环、类固醇代谢、免疫和骨形成的调节。
这些关联可能会导致新的骨修复和重塑途径，同时为治疗靶点开辟新的途径。遗传变异的知识可以帮助识别被认为有更高患 ONFH 风险的个体，并预防多次打击效应。
