Kumar Prasoon, Rathod Pratik M, Aggarwal Sameer, Patel Sandeep, Kumar Vishal, Jindal Karan
Department of Orthopaedics, PGIMER, Chandigarh, 160012 India.
Indian J Orthop. 2022 Jan 6;56(5):771-784. doi: 10.1007/s43465-021-00583-3. eCollection 2022 May.
Atraumatic ONFH is one of the leading cause of hip morbidity in the working-age group. It is a multi-factorial disease whose root cause can be attributed to single-nucleotide polymorphism. Identifying such polymorphisms could pave the way for new modalities of treatment for ONFH.
Two databases were electronically searched for relevant articles. The articles were screened through titles, abstract and full texts to include the relevant studies. A secondary search was done through the reference list of selected articles.
A total of 52 studies were included among the 181 hits. All 181 were case-control studies. Summary of these studies identifies multiple SNPs which can cause ONFH. There were 117 SNPs in all 181 studies, of which 92 were associated with the causation of ONFH and 25 were protective against ONFH.
SNPs play an essential role in causing atraumatic ONFH. Identification of SNP that contribute to causing ONFH may help reduce the disease burden by early identification, diagnosis and treatment, including targeted gene therapy.
非创伤性股骨头坏死是工作年龄组髋关节发病的主要原因之一。它是一种多因素疾病,其根本原因可归因于单核苷酸多态性。识别此类多态性可为股骨头坏死的新治疗方式铺平道路。
通过电子检索两个数据库以查找相关文章。通过标题、摘要和全文对文章进行筛选,以纳入相关研究。通过所选文章的参考文献列表进行二次检索。
在181条检索结果中,共纳入52项研究。所有181项均为病例对照研究。这些研究的总结确定了多个可导致股骨头坏死的单核苷酸多态性。在所有181项研究中共有117个单核苷酸多态性,其中92个与股骨头坏死的病因相关,25个对股骨头坏死具有保护作用。
单核苷酸多态性在导致非创伤性股骨头坏死中起重要作用。识别导致股骨头坏死的单核苷酸多态性可能有助于通过早期识别、诊断和治疗(包括靶向基因治疗)减轻疾病负担。