Genotype Prevalence of Lactose Deficiency, Vitamin D Deficiency, and the Vitamin D Receptor in a Chilean Inflammatory Bowel Disease Cohort: Insights from an Observational Study.

Autor: Pérez-Jeldres T; Department of Gastroenterology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago 8320000, Chile.; Department of Gastroenterology, Hospital San Borja Arriarán, Santiago 8360160, Chile., Bustamante ML; Biomedical Sciences Institute, Faculty of Medicine, Universidad de Chile, Santiago 8380453, Chile.; Fundación Diagnosis, Santiago 7500580, Chile., Segovia-Melero R; Red Salud Arauco, Santiago 7560994, Chile., Aguilar N; Department of Gastroenterology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago 8320000, Chile.; Department of Gastroenterology, Hospital San Borja Arriarán, Santiago 8360160, Chile., Magne F; Biomedical Sciences Institute, Faculty of Medicine, Universidad de Chile, Santiago 8380453, Chile., Ascui G; La Jolla Institute for Immunology, San Diego, CA 92037, USA., Uribe D; Instituto de Nutrición y Tecnología de Alimentos, Facultad de Medicina Universidad de Chile, Santiago 8380453, Chile., Azócar L; Department of Gastroenterology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago 8320000, Chile., Hernández-Rocha C; Department of Gastroenterology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago 8320000, Chile., Estela R; Department of Gastroenterology, Hospital San Borja Arriarán, Santiago 8360160, Chile., Silva V; Department of Gastroenterology, Hospital San Borja Arriarán, Santiago 8360160, Chile., De La Vega A; Department of Gastroenterology, Hospital San Borja Arriarán, Santiago 8360160, Chile., Arriagada E; Department of Gastroenterology, Hospital San Borja Arriarán, Santiago 8360160, Chile., Gonzalez M; Department of Gastroenterology, Hospital San Borja Arriarán, Santiago 8360160, Chile., Onetto GF; Department of Gastroenterology, Hospital San Borja Arriarán, Santiago 8360160, Chile., Escobar S; Department of Gastroenterology, Hospital San Borja Arriarán, Santiago 8360160, Chile., Baez P; Center of Medical Informatics and Telemedicine, University of Chile, Santiago 8380453, Chile., Zazueta A; Biomedical Sciences Institute, Faculty of Medicine, Universidad de Chile, Santiago 8380453, Chile., Pavez-Ovalle C; Department of Gastroenterology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago 8320000, Chile., Miquel JF; Department of Gastroenterology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago 8320000, Chile., Álvarez-Lobos M; Department of Gastroenterology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago 8320000, Chile.
Jazyk: angličtina
Zdroj: International journal of molecular sciences [Int J Mol Sci] 2023 Oct 03; Vol. 24 (19). Date of Electronic Publication: 2023 Oct 03.
DOI: 10.3390/ijms241914866
Abstrakt: Lactose intolerance (LI) and vitamin D deficiency (VDD) have been linked to inflammatory bowel disease (IBD). We conducted an observational study in 192 Chilean IBD patients to investigate the prevalence of a specific gene variant (LCT-13910 CC genotype) associated with LI and the prevalence of VDD/Vitamin D Receptor (VDR) gene variants. Blood samples were analyzed using Illumina's Infinium Global Screening Array. The LCT-13910 CC genotype was found in 61% of IBD patients, similar to Chilean Hispanic controls and lower than Chilean Amerindian controls. The frequency of the LCT-13910-C allele in Chilean IBD patients (0.79) was comparable to the general population and higher than Europeans (0.49). Regarding VDR and VDD variants, in our study, the rs12785878-GG variant was associated with an increased risk of IBD (OR = 2.64, CI = 1.61-4.32; p -value = 0.001). Sixty-one percent of the Chilean IBD cohort have a genetic predisposition to lactose malabsorption, and a significant proportion exhibit genetic variants associated with VDD/VDR. Screening for LI and VDD is crucial in this Latin American IBD population.
Databáze: MEDLINE
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