TY - JOUR
T1 - Ethnicity influences phenotype and clinical outcomes
T2 - Comparing a South American with a North American inflammatory bowel disease cohort
AU - Pérez-Jeldres, Tamara
AU - Pizarro, Benjamín
AU - Ascui, Gabriel
AU - Orellana, Matías
AU - Cerda-Villablanca, Mauricio
AU - Alvares, Danilo
AU - De La Vega, Andrés
AU - Cannistra, MacArena
AU - Cornejo, Bárbara
AU - Baéz, Pablo
AU - Silva, Verónica
AU - Arriagada, Elizabeth
AU - Rivera-Nieves, Jesús
AU - Estela, Ricardo
AU - Hernández-Rocha, Cristián
AU - Álvarez-Lobos, Manuel
AU - Tobar, Felipe
N1 - Publisher Copyright:
© 2022 Lippincott Williams and Wilkins. All rights reserved.
PY - 2022/9/9
Y1 - 2022/9/9
N2 - 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.
AB - 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.
KW - IBD
KW - ethnicity
KW - machine learning
UR - http://www.scopus.com/inward/record.url?scp=85138126981&partnerID=8YFLogxK
U2 - 10.1097/MD.0000000000030216
DO - 10.1097/MD.0000000000030216
M3 - Article
C2 - 36086782
AN - SCOPUS:85138126981
SN - 0025-7974
VL - 101
SP - E30216
JO - Medicine (United States)
JF - Medicine (United States)
IS - 36
ER -