Nair Nisha, Wilson Anthony G, Barton Anne
Arthritis Research UK Centre for Genetics & Genomics, Centre for Musculoskeletal Research, University of Manchester, Manchester, UK.
University College Dublin School of Medicine & Medical Science & Conway Institute, Dublin, Ireland.
Pharmacogenomics. 2017 Sep;18(14):1323-1332. doi: 10.2217/pgs-2016-0195. Epub 2017 Aug 24.
Rheumatoid arthritis (RA) is a complex disease affecting approximately 0.5-1% of the population. While there are effective biologic therapies, in up to 40% of patients, disease activity remains inadequately controlled. Therefore, identifying factors that predict, prior to the initiation of therapy, which patients are likely to respond best to which treatment is a research priority and DNA methylation is increasingly being explored as a potential theranostic biomarker. DNA methylation is thought to play a role in RA disease pathogenesis and in mediating the relationship between genetic variants and patient outcomes. The role of DNA methylation has been most extensively explored in cancer medicine, where it has been shown to be predictive of treatment response. Studies in RA, however, are in their infancy and, while showing promise, further investigation in well-powered studies is warranted.
类风湿性关节炎（RA）是一种复杂疾病，影响着约0.5%-1%的人口。虽然有有效的生物疗法，但高达40%的患者疾病活动仍未得到充分控制。因此，在治疗开始前识别出哪些患者可能对哪种治疗反应最佳的预测因素是一项研究重点，而DNA甲基化正越来越多地被探索作为一种潜在的治疗诊断生物标志物。DNA甲基化被认为在RA疾病发病机制以及介导基因变异与患者预后之间的关系中发挥作用。DNA甲基化的作用在癌症医学中得到了最广泛的探索，在那里它已被证明可预测治疗反应。然而，RA方面的研究尚处于起步阶段，虽然显示出前景，但仍需要在样本量充足的研究中进行进一步调查。
