Chen Lu, Zhao Jianan, Meng Qingliang
Department of Traditional Chinese Medicine, Aviation General Hospital, Beijing, China.
Department of Rheumatology, Guanghua Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai, China.
Front Immunol. 2025 Apr 1;16:1556971. doi: 10.3389/fimmu.2025.1556971. eCollection 2025.
Rheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease that affects multiple systems and is driven by various factors, including interactions between genetic and environmental elements. Over the past few decades, genome-wide association studies (GWAS) have been instrumental in regard to identifying genetic and environmental risk factors associated with RA susceptibility and pathogenesis. The recent discoveries of novel genetic susceptibility loci and pathways offer promising therapeutic targets for RA and precision medicine. More than 100 genetic loci have been identified in RA patients. In this review, we have focused on more than 40 genes that have been supported by evidence to be closely associated with the development of RA. These include genes involved in various mechanisms, such as loss of self-tolerance, autoimmune antibody production (e.g., ), inflammatory signaling and bone destruction (e.g., ), complication (e.g., ), and differential drug responses (e.g., ). These novel players and mechanisms enhance our understanding of the RA pathogenesis and also provide a reference for personalized and precise medicine, including diagnosis and treatment.
类风湿性关节炎（RA）是一种慢性炎症性自身免疫性疾病，会影响多个系统，由多种因素驱动，包括遗传和环境因素之间的相互作用。在过去几十年中，全基因组关联研究（GWAS）对于识别与RA易感性和发病机制相关的遗传和环境风险因素起到了重要作用。最近发现的新型遗传易感基因座和途径为RA和精准医学提供了有前景的治疗靶点。在RA患者中已鉴定出100多个遗传基因座。在本综述中，我们重点关注了40多个有证据支持与RA发展密切相关的基因。这些基因涉及各种机制，如自身耐受丧失、自身免疫抗体产生（如 ）、炎症信号传导和骨破坏（如 ）、并发症（如 ）以及药物反应差异（如 ）。这些新的作用因素和机制加深了我们对RA发病机制的理解，也为个性化和精准医学（包括诊断和治疗）提供了参考。
