Asociación del polimorfismo FCGR2B-I232T con lupus eritematoso sistémico y nefritis lúpica en una población del Caribe colombiano
| dc.contributor.author | Bello Lemus, Yesit | |
| dc.date.accessioned | 2019-07-19T21:53:11Z | |
| dc.date.available | 2019-07-19T21:53:11Z | |
| dc.date.issued | 2019 | |
| dc.description.abstract | 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. | spa |
| dc.description.abstract | 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. | eng |
| dc.identifier.uri | https://hdl.handle.net/20.500.12442/3600 | |
| dc.language.iso | spa | spa |
| dc.publisher | Ediciones Universidad Simón Bolívar | spa |
| dc.publisher | Facultad de Ciencias Básicas y Biomédicas | spa |
| dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | eng |
| dc.rights.accessrights | info:eu-repo/semantics/restrictedAccess | spa |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
| dc.subject | Polimorfismo | spa |
| dc.subject | FCGR2B-I232T | spa |
| dc.subject | Lupus eritematoso sistémico | spa |
| dc.subject | Nefritis lúpica | spa |
| dc.subject | Polymorphism | eng |
| dc.subject | Systemic lupus erythematosus | eng |
| dc.subject | Lupus nephritis | eng |
| dc.title | Asociación del polimorfismo FCGR2B-I232T con lupus eritematoso sistémico y nefritis lúpica en una población del Caribe colombiano | spa |
| dc.type | article | spa |
| dcterms.references | GHETIE V, WARD ES: Multiple Roles for the Major Histocompatibility Complex Class I– Related Receptor FcRn. Annu Rev Immunol 2000; 18: 739–66. | eng |
| dcterms.references | NEGISHI-KOGA T, GOBER HJ, SUMIYA E, KOMATSU N, OKAMOTO K, SAWA S, ET AL.: Immune complexes regulate bone metabolism through FcRγ signalling. Nat Commun 2015; 6: 1–14. | eng |
| dcterms.references | XU L, XIA M, GUO J, SUN X, LI H, XU C, ET AL.: Impairment on the lateral mobility induced by structural changes underlies the functional deficiency of the lupus-associated polymorphism FcγRIIB-T232. J Exp Med 2016; 213: 2707–27. | eng |
| dcterms.references | CHEN W, PALANISAMY N, SCHMIDT H, TERUYA-FELDSTEIN J, JHANWAR SC, ZELENETZ AD, ET AL.: Deregulation of FCGR2B expression by 1q21 rearrangements in follicular lymphomas. Oncogene 2001; 20: 7686–93. | eng |
| dcterms.references | JHOU JP, YU IS, HWAI H, CHEN CS, CHEN PL, TZENG SJ: The Lupus-Associated Fcγ Receptor IIb–I232T Polymorphism Results in Impairment in the Negative Selection of Low-Affinity Germinal Center B Cells Via c-Abl in Mice. Arthritis Rheumatol 2018; 70: 1866–78. | eng |
| dcterms.references | BOLLAND S, RAVETCH J V: Spontaneous Autoimmune Disease in FcγRIIB-Deficient Mice Results from Strain-Specific Epistasis. Immunity 2000; 13: 277–85. | eng |
| dcterms.references | RAHMAN ZSM, NIU H, PERRY D, WAKELAND E, MANSER T, MOREL L: Expression of the autoimmune Fcgr2b NZW allele fails to be upregulated in germinal center B cells and is associated with increased IgG production. Genes Immun 2010; 8: 604–12. | eng |
| dcterms.references | ZHU Y, ZHUANG Y, YANG G-H, QIANG X-F, YANG L, SHEN Y-F: Polymorphisms of FcγRIIA, FcγRIIIA and FcγRIIB in patients with immune thrombocytopenia and their clinical significance. Zhongguo shi yan xue ye xue za zhi 2013; 21: 135–9. | eng |
| dcterms.references | SMITH KGC, CLATWORTHY MR: FcγRIIB in autoimmunity and infection: Evolutionary and therapeutic implications. Nat Rev Immunol 2010; 10: 328–43. | eng |
| dcterms.references | WILLCOCKS LC, CARR EJ, NIEDERER HA, RAYNER TF, WILLIAMS TN, YANG W, ET AL.: A defunctioning polymorphism in FCGR2B is associated with protection against malaria but susceptibility to systemic lupus erythematosus. Proc Natl Acad Sci U S A 2010; 107: 7881–5. | eng |
| dcterms.references | HU XP, WU JQ, ZHU LP, WANG X, XU B, WANG RY, ET AL.: Association of Fcγ receptor IIB polymorphism with cryptococcal meningitis in HIV-uninfected chinese patients. Lafrenie R, editor. PLoS One 2012; 7: e42439-6. | eng |
| dcterms.references | SIRIBOONRIT U, TSUCHIYA N, SIRIKONG M, KYOGOKU C, BEJRACHANDRA S, SUTHIPINITTHARM P, ET AL.: Association of Fcgamma receptor IIb and IIIb polymorphisms with susceptibility to systemic lupus erythematosus in Thais. Tissue Antigens 2003; 61: 374–83. | eng |
| dcterms.references | KONO H, KYOGOKU C, SUZUKI T, TSUCHIYA N, HONDA H, YAMAMOTO K, ET AL.: FcγRIIB Ile232Thr transmembrane polymorphism associated with human systemic lupus erythematosus decreases affinity to lipid rafts and attenuates inhibitory effects on B cell receptor signaling. Hum Mol Genet 2005; 14: 2881–92. | eng |
| dcterms.references | TSANG-A-SJOE MWP, NAGELKERKE SQ, BULTINK IEM, GEISSLER J, TANCK MWT, TACKE CE, ET AL.: Fc-gamma receptor polymorphisms differentially influence susceptibility to systemic lupus erythematosus and lupus nephritis. Rheumatology 2016; 55: 939–48. | eng |
| dcterms.references | ZIDAN HE, SABBAH NA, HAGRASS HA, TANTAWY EA, EL-SHAHAWY EE, NAGEEB GS, ET AL.: Association of FcγRIIB and FcγRIIA R131H gene polymorphisms with renal involvement in Egyptian systemic lupus erythematosus patients. Mol Biol Rep 2014; 41: 733–9. | eng |
| dcterms.references | KYOGOKU C, DIJSTELBLOEM HM, TSUCHIYA N, HATTA Y, KATO H, YAMAGUCHI A, ET AL.: Fcg receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: Contribution ofFCGR2B to genetic susceptibility. Arthritis Rheum 2002; 46: 1242–54. | eng |
| dcterms.references | HITOMI Y, TSUCHIYA N, KAWASAKI A, OHASHI J, SUZUKI T, KYOGOKU C, ET AL.: CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. Hum Mol Genet 2004; 13: 2907–17. | eng |
| dcterms.references | TORO-DOMÍNGUEZ D, MARTORELL-MARUGÁN J, GOLDMAN D, PETRI M, CARMONA-SÁEZ P, ALARCÓN-RIQUELME ME: Stratification of Systemic Lupus Erythematosus Patients Into Three Groups of Disease Activity Progression According to Longitudinal Gene Expression. Arthritis Rheumatol 2018; 70: 2025–35. | eng |
| dcterms.references | ANDERS HJ, FOGO AB: Immunopathology of lupus nephritis. Semin Immunopathol 2014; 36: 443–59. | eng |
| dcterms.references | MOHAN C, PUTTERMAN C: Genetics and pathogenesis of systemic lupus erythematosus and lupus nephritis. Nat Rev Nephrol 2015; 11: 329–41. | eng |
| dcterms.references | YUNG S, CHAN TM: Anti-DNA antibodies in the pathogenesis of lupus nephritis — The emerging mechanisms. Autoimmun Rev 2008; 7: 317–21. | eng |
| dcterms.references | DER E, RANABOTHU S, SURYAWANSHI H, AKAT KM, CLANCY R, MOROZOV P, ET AL.: Single cell RNA sequencing to dissect the molecular heterogeneity in lupus nephritis. JCI insight 2017; 2: 1–12. | eng |
| dcterms.references | CERVERA R, KHAMASHTA MA, FONT J, SEBASTIANI GD, GIL A, LAVILLA P, ET AL.: Morbidity and Mortality in Systemic Lupus Erythematosus During a 10-Year Period. Medicine (Baltimore) 2003; 82: 299–308. | eng |
| dcterms.references | AROCA MARTÍNEZ G, LÓPEZ EIROA P, MARTÍNEZ BAYONA Á, DOMÍNGUEZ VARGAS A, GONZÁLEZ-TORRES HJ, ANGEL DEPINE S: Quality of life as a determinant factor treatment response in Lupus Nephritis Calidad de vida como factor determinante a la respuesta al tratamiento en Nefritis Lúpica. Rev Latinoam Hipertens 2017; 12: 161–6. | eng |
| dcterms.references | SAXENA R, MAHAJAN T, MOHAN C: Lupus nephritis: current update. Arthritis Res Ther 2011; 13: 240-. | eng |
| dcterms.references | STICHWEH D, PASCUAL V: Lupus eritematoso sistémico pediátrico. An Pediatría 2005; 63: 321–9. | spa |
| dcterms.references | ORTEGA L, SCHULTZ D, LENZ O, PARDO V, CONTRERAS G: Review: Lupus nephritis: pathologic features, epidemiology and a guide to therapeutic decisions. Lupus 2010; 19: 557–74. | eng |
| dcterms.references | COWLAND JB, ANDERSEN V, HALBERG P, MORLING N: DNA polymorphism of HLA class II genes in systemic lupus erythematosus. Tissue Antigens 1994; 43: 34–7. | eng |
| dcterms.references | XUE K, NIU W-Q, CUI Y: Association of HLA-DR3 and HLA-DR15 Polymorphisms with Risk of Systemic Lupus Erythematosus. Chin Med J (Engl) 2018; 131: 2844–51. | eng |
| dcterms.references | HELLIER J-P, ELIAOU JF, DAURÈS JP, SANY J, COMBE B: HLA-DRB1 genes and patients with late onset rheumatoid arthritis. Ann Rheum Dis 2001; 60: 531–3. | eng |
| dcterms.references | CORREA PA, WHITWORTH WC, KUFFNER T, MCNICHOLL J, ANAYA J-M: HLA-DR and DQB1 gene polymorphism in the North-western Colombian population. Tissue Antigens 2002; 59: 436–9. | eng |
| dcterms.references | GARAVITO G, EGEA E, FANG L, MALAGÓN C, OLMOS C, GONZÁLEZ L, ET AL.: Association of polymorphic variants of PTPN22, TNF and VDR systems in children with lupus nephritis: a study in trios of Colombian families. Biomédica 2017; 37: 260–6. | eng |
| dcterms.references | RAMIREZ M, QUINTANA G, DIAZ-GALLO LM, CAMINOS J, GARCES M, CEPEDA L, ET AL.: The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic lupus erythematosus but not for systemic sclerosis in the Colombian population. Clin Exp Rheumatol 30: 520–4. | eng |
| dcterms.references | GUSTAVO AROCA-MARTÍNEZ G, DEPINE S, CONSUEGRA-MACHADO JR, GONZÁLEZ-TORRES HJ, ÁRQUEZ-MENDOZA M, ESTRADA-GARCÍA E: Desarrollo y uso de una interfaz de programación de aplicaciones modifcada de GoogleMaps© para la georreferenciación de pacientes con enfermedad glomerular. Nefrologia 2015; 35: 118–20. | spa |
| dcterms.references | NAVARRO-QUIROZ E, PACHECO-LUGO L, LORENZI H, DÍAZ-OLMOS Y, ALMENDRALES L, RICO E, ET AL.: High-throughput sequencing reveals circulating miRNAs as potential biomarkers of kidney damage in patients with systemic lupus erythematosus. PLoS One 2016; 11: 1–13. | eng |
| dcterms.references | GAVIRIA-GARCIA G, ZARZA M DE, AROCA-MARTINEZ G: Características sociodemográficas y clínicas de pacientes con nefritis lúpica. Barranquilla, Colombia. Cienc Salud 2018; 16: 32–7. | spa |
| dcterms.references | WANG J, LI Z, XU L, YANG H, LIU W: Transmembrane domain dependent inhibitory function of FcγRIIB [Internet]. Vol. 9, Protein and Cell. 2018. p. 1004–12. | eng |
| dcterms.references | RUIZ-IRASTORZA G, ESPINOSA G, FRUTOS MA, JIMÉNEZ-ALONSO J, PRAGA M, PALLARÉS L, ET AL.: Diagnosis and treatment of Lupus nephritis: Consensus document from the systemic auto-immune disease group (GEAS) of the Spanish society of internal medicine (SEMI) and the Spanish society of nephrology (S.E.N.). Nefrologia 2012; 32: 1–45. | eng |
| dcterms.references | SE FUM WONG S, KUEI JJ, PRASAD N, AGONAFER E, MENDOZA GA, PEMBERTON TJ, ET AL.: A Simple Method for DNA Isolation from Clotted Blood Extricated Rapidly from Serum Separator Tubes. Clin Chem 2007; 53: 522–4. | eng |
| dcterms.references | SANDOVAL CARLOS, HOZ ANTONIO DE LA, YUNIS EMILIO: Estructura Genetica de la Poblacion Colombiana. Rev Fac Med 1993; 41: 3–14. | spa |
| dcterms.references | MARTORANA D, BONATTI F, ALBERICI F, GIOFFREDI A, REINA M, URBAN ML, ET AL.: Fcγ-receptor 3B (FCGR3B) copy number variations in patients with eosinophilic granulomatosis with polyangiitis. J Allergy Clin Immunol 2016; 137: 1597-1599.e8. | eng |
| dcterms.references | FLOTO RA, CLATWORTHY MR, HEILBRONN KR, ROSNER DR, MACARY PA, RANKIN A, ET AL.: Loss of function of a lupus-associated FcγRIIb polymorphism through exclusion from lipid rafts. Nat Med 2005; 11: 1056–8. | eng |
| dcterms.references | HARGREAVES CE, IRIYAMA C, ROSE-ZERILLI MJJ, NAGELKERKE SQ, HUSSAIN K, GANDERTON R, ET AL.: Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus. Haziot A, editor. PLoS One 2015; 10: e0142379. | eng |
| dcterms.references | BONATTI F, ADORNI A, PERCESEPE A, MARTORANA D: Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes. Int J Immunogenet 2018; 45: 22–5. | eng |
| dcterms.references | RAMOS PS, BROWN EE, KIMBERLY RP, LANGEFELD CD: Genetic factors predisposing to systemic lupus erythematosus and lupus nephritis. Semin Nephrol 2010; 30: 164–76. | eng |
| sb.programa | Maestría en Genética | spa |
| sb.sede | Sede Barranquilla | spa |