dc.creator | Garavito, Gloria | |
dc.creator | Fang, Luis | |
dc.creator | Domínguez-Vargas, Alex | |
dc.creator | Moreno-Woo, Ana | |
dc.creator | López-Luch, Guillermo | |
dc.creator | Iglesias, Antonio | |
dc.creator | Aroca, Gustavo | |
dc.creator | Egea, Eduardo | |
dc.date.accessioned | 2023-03-15T13:26:21Z | |
dc.date.accessioned | 2023-08-23T14:29:49Z | |
dc.date.available | 2023-03-15T13:26:21Z | |
dc.date.available | 2023-08-23T14:29:49Z | |
dc.date.created | 2023-03-15T13:26:21Z | |
dc.date.issued | 2023 | |
dc.identifier | 24444405 | |
dc.identifier | https://hdl.handle.net/20.500.12442/11991 | |
dc.identifier | https://doi.org/10.1016/j.rcreue.2021.04.008 | |
dc.identifier | https://nam10.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.sciencedirect.com%2Fscience%2Farticle%2Fpii%2FS244444052300016X&data=05%7C01%7Crepositorio.digital%40unisimon.edu.co%7Cec72927da02c43f1ca6b08db24c4c071%7C3430354174ec4d4a8c5a8049d2fd6ce6%7C0%7C0%7C638144199686787421%7CUnknown%7CTWFpbGZsb3d8eyJWIjoiMC4wLjAwMDAiLCJQIjoiV2luMzIiLCJBTiI6Ik1haWwiLCJXVCI6Mn0%3D%7C3000%7C%7C%7C&sdata=Mzi0sBFd27mI4BkVT2cXLgdUlXVT9XHDx2VC7irQcbI%3D&reserved=0 | |
dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8356043 | |
dc.description.abstract | Vitamin D and vitamin D receptor (VDR) polymorphisms are associated withautoimmune diseases including systemic lupus erythematosus (SLE). The aim of this studyis to assess the genetic association between VDR polymorphisms: TaqI, ApaI, Bsml and FokIand SLE with serum levels of Vitamin D in the Colombian Caribbean population.Method: Case and control study. One hundred and thirty-three patients with SLE and 100healthy individuals were included. VDR polymorphism were genotyped by RT-PCR andTaqman®probes. Allelic, genotypic and haplotype associations were estimated. Serum vita-min D concentrations were quantified by Elisa. Values of 30 to 100 ng/ml were establishedas a normal reference range. P values <.05 were considered statistically significant.Results: A high prevalence of SLE was observed in women (94%) and was associated witha higher risk of SLE [OR: 10.8; 95% CI: 4.7–24.6] (p < .05). Moreover, higher risk of SLE wasobserved in individuals with FokI VDR [rs2228570] [OR: 1.58; 95% CI: 1.05−2.36] in allelic mod-els. The ACCA Haplotype of TaqI/ApaI/Bsml/FokI polymorphisms was associated with higherrisk of SLE [OR = 2.28, 95% CI = 1.12−4.66, psim <.01]. Vitamin D deficiency was evidenced in11.3% of the patients. | |
dc.description.abstract | La vitamina D y los polimorfismos en el receptor de vitamina D (VDR) se asocian con enfermedades autoinmunes, incluido el lupus eritematoso sistémico (LES). El objetivo de este estudio es analizar la asociación genética entre los polimorfismos de VDR: TaqI, ApaI, Bsml y FokI, y la susceptibilidad al LES, así como su relación con los niveles séricos de vitamina D en población del Caribe colombiano. Metodología: Estudio de casos y controles. Se incluyeron 133 pacientes adultos con diagnós- tico de LES y 100 individuos sanos. Los polimorfismos VDR fueron genotipados por RT-PCR y sondas Taqman®. Se estimaron asociaciones alélicas, genotípicas y haplotípicas. Las concentraciones séricas de vitamina D fueron cuantificadas por Elisa. Se establecieron valores de 30 a 100 ng/mL como rango normal de referencia. Valores p < 0,05 fueron considerados estadísticamente significativos. Resultados: Se observó una alta prevalencia de LES en pacientes femeninas (94%) y se asoció a mayor riesgo de LES [OR: 10,8; IC 95%: 4,7–24,6] (p < 0,05). Se evidenció mayor riesgo de LES en individuos con polimorfismo FokI del gen VDR [rs2228570] [OR: 1,58; IC 95%: 1,05−2,36] en modelos alélicos. El haplotipo ACCA de los polimorfismos TaqI, ApaI, Bsml yFokI se asoció a mayor riesgo de LES [OR: 2,28, IC 95%: 1,12-4,66, psim< 0,01]. Se evidenció deficiencia de vitamina D en 11,3% de los pacientes. | |
dc.language | eng | |
dc.publisher | Elsevier | |
dc.rights | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights | info:eu-repo/semantics/restrictedAccess | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | |
dc.source | Asociación Colombiana de Reumatología | |
dc.source | rev colomb reumatol | |
dc.source | Vol. XX No. XX Año 2023 | |
dc.subject | Systemic lupus erythematosus | |
dc.subject | VDR | |
dc.subject | Vitamin D | |
dc.subject | Polymorphism | |
dc.subject | Lupus eritematoso sistémico | |
dc.subject | Vitamina D | |
dc.subject | Polimorfismo | |
dc.title | Association of FokI polymorphism of the VDR genewith systemic lupus erythematosus in anadolescent population of the Colombian Caribbean | |