Anhui University of Traditional Chinese Medicine, Hefei, 230031, Anhui, China.
Department of Rheumatology and Immunology, First Affiliated Hospital of Anhui, University of Traditional Chinese Medicine, Shushan, Hefei, 230038, Anhui, China.
Clin Rheumatol. 2024 Oct;43(10):3073-3082. doi: 10.1007/s10067-024-07113-0. Epub 2024 Aug 21.
Ankylosing spondylitis (AS) is a chronic inflammatory autoimmune disease, mainly characterized by perifibrocartilage osteitis of the sacroiliac joints and spinal enthesitis. To date, the exact pathogenesis of AS remains elusive. It is generally believed that AS is a multifactorial disease involving genetics, infection, environment, and immunity. Among them, genetic factors are the primary determinants of disease risk and severity. In recent years, epigenetic mechanisms such as DNA methylation have been extensively surveyed with respect to the pathogenesis of AS. This review summarizes the latest research progress of methylation in AS, from whole-genome sequencing to individual differentially methylated gene. And finally, the role of methylase in AS inflammation, autophagy, and osteogenic differentiation was explored. In summary, the results of this review attempt to explain the role of methylation in the occurrence and development of AS and point out the shortcomings of current methylation research, providing directions for subsequent methylation research in AS.
强直性脊柱炎（AS）是一种慢性炎症性自身免疫性疾病，主要特征为骶髂关节纤维环周围骨炎和脊柱附着点炎。迄今为止，AS 的确切发病机制仍不清楚。一般认为，AS 是一种多因素疾病，涉及遗传、感染、环境和免疫等因素。其中，遗传因素是疾病风险和严重程度的主要决定因素。近年来，DNA 甲基化等表观遗传机制在 AS 的发病机制方面得到了广泛的研究。本综述总结了甲基化在 AS 中的最新研究进展，从全基因组测序到个体差异甲基化基因。最后，探讨了甲基转移酶在 AS 炎症、自噬和成骨分化中的作用。综上所述，本综述的结果试图解释甲基化在 AS 发生发展中的作用，并指出当前甲基化研究的不足之处，为后续 AS 甲基化研究提供方向。
