Servian Jatniel E, Brady Brianna, Biswas Pritam, Sukumar T K, King Stephanie E
Department of Basic Sciences, St. Matthews University School of Medicine, Grand Cayman, Cayman Islands.
Yale J Biol Med. 2025 Jun 30;98(2):171-186. doi: 10.59249/FTXB7704. eCollection 2025 Jun.
Inflammatory bowel disease (IBD), encompassing Crohn's disease (CD) and ulcerative colitis (UC), is a chronic, autoimmune disorder characterized by inflammation along the gastrointestinal tract. Global prevalence of the disease is increasing and patients often experience delays in diagnosis accessing effective therapy, highlighting an urgent need to develop a predictive biomarker for therapeutic response to reduce healthcare costs and disease burdens. Despite the advances to identifying genetic biomarkers for prediction of disease remission in IBD, patient responses vary widely, suggesting that inherited genetic variations alone cannot account for these differences. As autoimmune diseases like IBD are largely environmental in etiology, epigenetic modifications like DNA methylation, histone modifications, and non-coding RNAs (ncRNAs) also have the potential to be candidates for predictive biomarkers of patient disease development and treatment response. This review will explore the novel field of pharmacoepigenetics and the development of predictive epigenetic biomarkers for treatment response in IBD, highlighting new research in the field. While research is still in the early stages, the studies reviewed have demonstrated that epigenetic profiling can be utilized to predict treatment response in IBD patients. Additional pharmacoepigenetic cohorts with more diverse participants could help enhance current models, improving predictability of treatment response and clinical outcomes. As research in this field progresses, epigenetic biomarkers should be integrated into the clinical environment to expedite diagnosis, reduce trial-and-error approach to treatment, and lay the foundations for individualized therapeutic strategies for IBD patients.
炎症性肠病（IBD）包括克罗恩病（CD）和溃疡性结肠炎（UC），是一种慢性自身免疫性疾病，其特征为胃肠道炎症。该疾病的全球患病率正在上升，患者在获得有效治疗前往往会经历诊断延迟，这凸显了迫切需要开发一种预测生物标志物来指导治疗反应，以降低医疗成本和疾病负担。尽管在识别用于预测IBD疾病缓解的遗传生物标志物方面取得了进展，但患者的反应差异很大，这表明仅遗传变异无法解释这些差异。由于像IBD这样的自身免疫性疾病在很大程度上由环境因素导致，表观遗传修饰如DNA甲基化、组蛋白修饰和非编码RNA（ncRNA）也有可能成为患者疾病发展和治疗反应预测生物标志物的候选者。本综述将探讨药物表观遗传学这一新兴领域以及IBD治疗反应预测表观遗传生物标志物的发展，重点介绍该领域的新研究。虽然研究仍处于早期阶段，但所综述的研究表明，表观遗传分析可用于预测IBD患者的治疗反应。纳入更多样化参与者的额外药物表观遗传队列有助于改进当前模型，提高治疗反应和临床结果的可预测性。随着该领域研究的进展，表观遗传生物标志物应整合到临床环境中，以加快诊断，减少治疗的试错方法，并为IBD患者的个性化治疗策略奠定基础。
