Impact of Amerindian ancestry on clinical outcomes in Crohn’s disease and ulcerative colitis in a Latino population

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dc.article.number15331
dc.catalogadorjlo
dc.contributor.authorPérez Jeldres, Tamara De Lourdes
dc.contributor.authorBustamante, María Leonor
dc.contributor.authorÁlvares, Danilo
dc.contributor.authorÁlvarez Lobos, Manuel Marcelo
dc.contributor.authorKalmer, Lajos
dc.contributor.authorAzócar López, Lorena Karina
dc.contributor.authorSegovia Melero, Roberto
dc.contributor.authorAscui, Gabriel
dc.contributor.authorAguilar, Nataly
dc.contributor.authorEstela, Ricardo
dc.contributor.authorHernández Rocha, Cristian Antonio
dc.contributor.authorCandia Balboa, Roberto Andrés
dc.contributor.authorGonzález, Mauricio
dc.contributor.authorSilva, Verónica
dc.contributor.authorDe La Vega, Andrés
dc.contributor.authorArriagada, Elizabeth
dc.contributor.authorSerrano, Carolina A.
dc.contributor.authorPávez Ovalle, Carolina Denisse
dc.contributor.authorQuinteros Moraga, Carol
dc.contributor.authorMiquel Poblete, Juan Francisco
dc.contributor.authorAlex, Di Genova
dc.date.accessioned2025-05-28T20:57:51Z
dc.date.available2025-05-28T20:57:51Z
dc.date.issued2025
dc.description.abstractResearch in Inflammatory Bowel Disease (IBD) assessing the genetic structure and its association with IBD phenotypes is needed, especially in IBD-underrepresented populations such as the South American IBD population. Aim. We examine the correlation between Amerindian ancestry and IBD phenotypes within a South American cohort and investigate the association between previously identified IBD risk variants and phenotypes. We assessed the ancestral structure (IBD = 291, Controls = 51) to examine the association between Amerindian ancestry (AMR) and IBD variables. Additionally, we analyzed the influence of known IBD genetic risk factors on disease outcomes. We used Chi-square and Fisher’s tests to analyze the relationship between phenotypes and ancestry proportions, calculating odds ratios (OR) and confidence intervals (CI). Logistic regression examined genetic variants associations with IBD outcomes, and classification models for predicting prolonged remission were developed using decision tree and random forest techniques. The median distribution of global ancestry was 58% European, 39% Amerindian, and 3% African. There were no significant differences in IBD risk based on ancestry proportion between cases and controls. In Ulcerative colitis (UC), patients with a high Amerindian Ancestry Proportion (HAAP) were significantly linked to increased chances of resective surgery (OR = 4.27, CI = 1.41–12.94, p = 0.01), pouch formation (OR = 7.47, CI = 1.86–30.1, p = 0.003), and IBD reactivation during COVID-19 infection (OR = 5.16, CI = 1.61–6.53, p = 0.005). Whereas, in the Crohn’s Disease (CD) group, the median Amerindian ancestry proportion was lower in the group with perianal disease (33.5% versus 39.5%, P value = 0.03). CD patients with High Amerindian Ancestry proportion had lower risk for surgery (OR = 0.17, CI = 0.03–0.83, P value = 0.02). Our study highlights the impact of Amerindian ancestry on IBD phenotypes, suggesting a role for genetic and ancestral factors in disease phenotype. Further investigation is needed to unravel the underlying mechanisms driving these associations.
dc.description.funderUKRI Medical Research Council
dc.description.funderANID
dc.fechaingreso.objetodigital2025-05-28
dc.format.extent16 páginas
dc.fuente.origenSCOPUS
dc.identifier.doi10.1038/s41598-025-99543-2
dc.identifier.issn2045-2322
dc.identifier.scopusidSCOPUS_ID:105004049503
dc.identifier.urihttps://doi.org/10.1038/s41598-025-99543-2
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/104515
dc.information.autorucEscuela de Medicina; Pérez Jeldres, Tamara De Lourdes; S/I; 1024946
dc.information.autorucEscuela de Medicina; Álvarez Lobos, Manuel Marcelo; S/I; 6131
dc.information.autorucS/I; Azócar López, Lorena Karina; S/I; 1006324
dc.information.autorucEscuela de Medicina; Hernández Rocha, Cristian Antonio; 0000-0001-9018-4242; 175117
dc.information.autorucEscuela de Medicina; Candia Balboa, Roberto Andrés; 0000-0003-1856-7737; 16705
dc.information.autorucEscuela de Medicina; Pávez Ovalle, Carolina Denisse; S/I; 190170
dc.information.autorucEscuela de Medicina; Miquel Poblete, Juan Francisco; 0000-0002-0526-4377; 72216
dc.language.isoen
dc.nota.accesocontenido completo
dc.revistaScientific Reports
dc.rightsacceso abierto
dc.subjectAncestry
dc.subjectInflammatory bowel disease
dc.subjectSouth America
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleImpact of Amerindian ancestry on clinical outcomes in Crohn’s disease and ulcerative colitis in a Latino population
dc.typeartículo
dc.volumen15
sipa.codpersvinculados1024946
sipa.codpersvinculados6131
sipa.codpersvinculados1006324
sipa.codpersvinculados175117
sipa.codpersvinculados16705
sipa.codpersvinculados190170
sipa.codpersvinculados72216
sipa.trazabilidadSCOPUS;2025-05-18
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