Association of FokI polymorphism of the VDR genewith systemic lupus erythematosus in anadolescent population of the Colombian Caribbean

dc.contributor.authorGaravito, Gloria
dc.contributor.authorFang, Luis
dc.contributor.authorDomínguez-Vargas, Alex
dc.contributor.authorMoreno-Woo, Ana
dc.contributor.authorLópez-Luch, Guillermo
dc.contributor.authorIglesias, Antonio
dc.contributor.authorAroca, Gustavo
dc.contributor.authorEgea, Eduardo
dc.description.abstractVitamin 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.eng
dc.description.abstractLa 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
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.sourceAsociación Colombiana de Reumatologíaspa
dc.sourcerev colomb reumatoleng
dc.sourceVol. XX No. XX Año 2023
dc.subjectSystemic lupus erythematosuseng
dc.subjectVitamin Deng
dc.subjectLupus eritematoso sistémicospa
dc.subjectVitamina Dspa
dc.titleAssociation of FokI polymorphism of the VDR genewith systemic lupus erythematosus in anadolescent population of the Colombian Caribbeaneng
dc.title.translatedAsociación del poRkI del gen VDR y lupus eritematoso sistémico en población adolescente del Caribe colombianospa
dc.type.spaArtículo científicospa
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