骨性关节炎(osteoarthritis，OA)的发病率日益增长，已成为最常见的退行性关节疾病。由于OA的生物学复杂性，对于病因及发病机制还没有完全理解。这篇叙述性综述的目的是重点介绍最近5年发表的OA遗传学的关键研究文章，通过介绍出现的新技术、新方法揭示这些变异基因在OA病因及发病机制中的作用。通过全基因组关联研究(genome wide association study，GWAS)和孟德尔随机化研究(Mendelian randomization, MR)总结OA与其他疾病、常见风险因素的遗传相关性，为OA的诊断、治疗及预防提供新方法。 The incidence of osteoarthritis (OA) is increasing and it has become the most common degenerative joint disease. Due to the biological complexity of OA, the etiology and pathogenesis of OA are not fully understood. The purpose of this narrative review is to highlight the key research articles on OA genetics published in the last 5 years, and to reveal the role of these variants in the etiology and pathogenesis of OA by introducing new technologies and methods. To explore the genetic correlation between OA and other diseases and common risk factors through genome wide association study (GWAS) and Mendelian randomization study (MR), and to provide new methods for the diagnosis, treatment and prevention of OA.
Abstract
The incidence of osteoarthritis (OA) is increasing and it has become the most common degenerative joint disease. Due to the biological complexity of OA, the etiology and pathogenesis of OA are not fully understood. The purpose of this narrative review is to highlight the key research articles on OA genetics published in the last 5 years, and to reveal the role of these variants in the etiology and pathogenesis of OA by introducing new technologies and methods. To explore the genetic correlation between OA and other diseases and common risk factors through genome wide association study (GWAS) and Mendelian randomization study (MR), and to provide new methods for the diagnosis, treatment and prevention of OA.
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