Department of Gastroenterology, Faculty of Medicine, Pontifical Catholic University of Chile, Santiago, Chile.
Instituto Chileno-Japonés, University of Chile, Santiago, Chile.
Medicine (Baltimore). 2022 Sep 9;101(36):e30216. doi: 10.1097/MD.0000000000030216.
Inflammatory bowel disease (IBD), including ulcerative colitis (UC) and Crohn disease (CD), has emerged as a global disease with an increasing incidence in developing and newly industrialized regions such as South America. This global rise offers the opportunity to explore the differences and similarities in disease presentation and outcomes across different genetic backgrounds and geographic locations. Our study includes 265 IBD patients. We performed an exploratory analysis of the databases of Chilean and North American IBD patients to compare the clinical phenotypes between the cohorts. We employed an unsupervised machine-learning approach using principal component analysis, uniform manifold approximation, and projection, among others, for each disease. Finally, we predicted the cohort (North American vs Chilean) using a random forest. Several unsupervised machine learning methods have separated the 2 main groups, supporting the differences between North American and Chilean patients with each disease. The variables that explained the loadings of the clinical metadata on the principal components were related to the therapies and disease extension/location at diagnosis. Our random forest models were trained for cohort classification based on clinical characteristics, obtaining high accuracy (0.86 = UC; 0.79 = CD). Similarly, variables related to therapy and disease extension/location had a high Gini index. Similarly, univariate analysis showed a later CD age at diagnosis in Chilean IBD patients (37 vs 24; P = .005). Our study suggests a clinical difference between North American and Chilean IBD patients: later CD age at diagnosis with a predominantly less aggressive phenotype (39% vs 54% B1) and more limited disease, despite fewer biological therapies being used in Chile for both diseases.
炎症性肠病(IBD),包括溃疡性结肠炎(UC)和克罗恩病(CD),已成为一种全球性疾病,在南美等发展中和新兴工业化地区的发病率不断上升。这种全球增长提供了一个机会,可以探索不同遗传背景和地理位置的疾病表现和结果的差异和相似之处。我们的研究包括 265 名 IBD 患者。我们对智利和北美的 IBD 患者数据库进行了探索性分析,以比较队列之间的临床表型。我们使用了无监督机器学习方法,包括主成分分析、均匀流形逼近和投影等,对每种疾病进行分析。最后,我们使用随机森林预测队列(北美与智利)。几种无监督机器学习方法将这两个主要群体分开,支持北美和智利患者在每种疾病中的差异。解释临床元数据在主成分上的负荷的变量与诊断时的治疗和疾病扩展/位置有关。我们的随机森林模型基于临床特征进行队列分类训练,获得了很高的准确性(UC 为 0.86;CD 为 0.79)。同样,与治疗和疾病扩展/位置相关的变量具有很高的基尼指数。同样,单变量分析显示,智利 IBD 患者的 CD 诊断年龄较晚(37 岁比 24 岁;P=0.005)。我们的研究表明,北美和智利的 IBD 患者存在临床差异:诊断时 CD 年龄较晚,表型侵袭性较低(39%比 54%B1),疾病范围更局限,尽管智利对两种疾病的生物治疗都较少。