Inflammatory Bowel Disease Research Group, Health Research Institute La Fe (IIS La Fe), 46026 Valencia, Spain.
Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, 46100 Valencia, Spain.
Int J Mol Sci. 2024 Mar 27;25(7):3717. doi: 10.3390/ijms25073717.
Inflammatory bowel disease (IBD) is a chronic inflammatory disorder of the digestive tract usually characterized by diarrhea, rectal bleeding, and abdominal pain. IBD includes Crohn's disease and ulcerative colitis as the main entities. IBD is a debilitating condition that can lead to life-threatening complications, involving possible malignancy and surgery. The available therapies aim to achieve long-term remission and prevent disease progression. Biologics are bioengineered therapeutic drugs that mainly target proteins. Although they have revolutionized the treatment of IBD, their potential therapeutic benefits are limited due to large interindividual variability in clinical response in terms of efficacy and toxicity, resulting in high rates of long-term therapeutic failure. It is therefore important to find biomarkers that provide tailor-made treatment strategies that allow for patient stratification to maximize treatment benefits and minimize adverse events. Pharmacogenetics has the potential to optimize biologics selection in IBD by identifying genetic variants, specifically single nucleotide polymorphisms (SNPs), which are the underlying factors associated with an individual's drug response. This review analyzes the current knowledge of genetic variants associated with biological agent response (infliximab, adalimumab, ustekinumab, and vedolizumab) in IBD. An online literature search in various databases was conducted. After applying the inclusion and exclusion criteria, 28 reports from the 1685 results were employed for the review. The most significant SNPs potentially useful as predictive biomarkers of treatment response are linked to immunity, cytokine production, and immunorecognition.
炎症性肠病(IBD)是一种慢性消化道炎症性疾病,通常表现为腹泻、直肠出血和腹痛。IBD 包括克罗恩病和溃疡性结肠炎这两个主要实体。IBD 是一种使人虚弱的疾病,可能导致危及生命的并发症,包括可能的恶性肿瘤和手术。现有的治疗方法旨在实现长期缓解并防止疾病进展。生物制剂是生物工程治疗药物,主要针对蛋白质。尽管它们彻底改变了 IBD 的治疗方法,但由于临床疗效和毒性方面的个体间变异性很大,导致长期治疗失败率很高,因此它们的潜在治疗益处有限。因此,找到能够提供定制化治疗策略的生物标志物非常重要,这可以实现患者分层,从而最大限度地提高治疗效果并最小化不良反应。药物遗传学有可能通过识别与个体药物反应相关的遗传变异,特别是单核苷酸多态性(SNP),来优化 IBD 中的生物制剂选择。本综述分析了与 IBD 中生物制剂反应(英夫利昔单抗、阿达木单抗、乌司奴单抗和维得利珠单抗)相关的遗传变异的现有知识。在各种数据库中进行了在线文献检索。在应用纳入和排除标准后,从 1685 项结果中选取了 28 份报告进行综述。最有希望作为治疗反应预测生物标志物的重要 SNP 与免疫、细胞因子产生和免疫识别有关。