Asociación del polimorfismo FCGR2B-I232T con lupus eritematoso sistémico y nefritis lúpica en una población del Caribe colombiano
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2019
Autores
Bello Lemus, Yesit
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Ediciones Universidad Simón Bolívar
Facultad de Ciencias Básicas y Biomédicas
Facultad de Ciencias Básicas y Biomédicas
Resumen
Objetivo: Evaluar la asociación del polimorfismo FCGR2B-I232T con la aparición de nefritis lúpica (NL) en pacientes con LES en una población del Caribe colombiano.
Métodos: Estudio de casos y controles, con evaluación del genotipo FCGR2B-I232T en 26 pacientes con NL, 22 pacientes con LES y 44 controles sanos; se obtuvo DNA genómico mediante sangre total. Se amplificó un fragmento del gen FCGR2B por PCR y se secuenció mediante la técnica de Sanger para la evaluación del polimorfismo (rs1050501). Se realizó un análisis de equilibrio de Hardy-Weinberg y se calculó el OR para evaluar el riesgo entre la frecuencia alélica y genotípica (p-valor<0.05).
Resultados: Se evaluaron 92 muestras. La frecuencia alélica T y C fue 0.87 - 0.13, 0.89 - 0.11, 0.75 - 0.25. en los grupos NL, LES y CTRL respectivamente. La población LES-NL estuvo en equilibrio de Hardy-Weinberg, no siendo así para los controles. El análisis de OR (2.4 IC 1.18 – 4.88), p< 0.05), indicó la asociación del genotipo T/C con la complicación renal en pacientes con LES.
Conclusión: Se demostró la asociación del polimorfismo FCGR2B-T232 con el riesgo de complicación renal en pacientes con LES. La distribución de la frecuencia alélica entre los grupos sugiere una influencia de las relaciones étnicas propias de la región Caribe.
Objective: To evaluate the association of the polymorphism FCGR2B-I232T with the appearance of lupus nephritis (LN) in patients with SLE in a population of the Colombian Caribbean. Methods: Case-control study, evaluation of FCGR2B-I232T genotype in 26 patients with NL, 22 patients with SLE and 44 healthy controls; Genomic DNA was obtained by whole blood. A fragment of the FCGR2B gene was amplified by PCR and sequenced using the Sanger technique for the evaluation of the polymorphism (rs1050501). A Hardy-Weinberg equilibrium analysis was performed and the OR was calculated to evaluate the risk between the allelic and genotypic frequency (p-value <0.05). Results: 92 samples were evaluated. The allelic frequency T and C was 0.87 - 0.13, 0.89 - 0.11, 0.75 - 0.25. in groups LN, SLE and CTRL respectively. The LES-LN population was in the Hardy-Weinberg equilibrium, not so for the controls. The OR analysis (2.4 IC 1.18 - 4.88), p <0.05), indicated the association of the T / C genotype with renal complication in patients with SLE. Conclusion: The association of the polymorphism FCGR2B-T232 with risk of renal complication in patients with SLE was demonstrated. The distribution of the allelic frequency between the groups has an influence on the ethnic relations typical of the Caribbean region.
Objective: To evaluate the association of the polymorphism FCGR2B-I232T with the appearance of lupus nephritis (LN) in patients with SLE in a population of the Colombian Caribbean. Methods: Case-control study, evaluation of FCGR2B-I232T genotype in 26 patients with NL, 22 patients with SLE and 44 healthy controls; Genomic DNA was obtained by whole blood. A fragment of the FCGR2B gene was amplified by PCR and sequenced using the Sanger technique for the evaluation of the polymorphism (rs1050501). A Hardy-Weinberg equilibrium analysis was performed and the OR was calculated to evaluate the risk between the allelic and genotypic frequency (p-value <0.05). Results: 92 samples were evaluated. The allelic frequency T and C was 0.87 - 0.13, 0.89 - 0.11, 0.75 - 0.25. in groups LN, SLE and CTRL respectively. The LES-LN population was in the Hardy-Weinberg equilibrium, not so for the controls. The OR analysis (2.4 IC 1.18 - 4.88), p <0.05), indicated the association of the T / C genotype with renal complication in patients with SLE. Conclusion: The association of the polymorphism FCGR2B-T232 with risk of renal complication in patients with SLE was demonstrated. The distribution of the allelic frequency between the groups has an influence on the ethnic relations typical of the Caribbean region.
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Palabras clave
Polimorfismo, FCGR2B-I232T, Lupus eritematoso sistémico, Nefritis lúpica, Polymorphism, Systemic lupus erythematosus, Lupus nephritis