Examinando por Autor "Fang, Luis"
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Ítem Asociación de variantes polimórficas de los sistemas PTPN22, TNF y VDR en niños con nefritis lúpica: un estudio en tríos de familias colombianas(Instituto Nacional de Salud, 2017) Garavito, Gloria; Egea, Eduardo; Fang, Luis; Malagón, Clara; Olmos, Carlos; González, Luz; Guarnizo, Pilar; Aroca, Gustavo; López, Guillermo; Iglesias, AntonioIntroducción. El lupus eritematoso sistémico es una enfermedad autoinmune cuya gravedad varía según la raza, género y edad de aparición. Esta disparidad también se observa en los marcadores genéticos asociados con la enfermedad presentes en los genes PTPN22, VDR y TNF. La estratificación genética que presentan las diferentes poblaciones en el mundo puede estar influyendo dicha variabilidad. Objetivo. Analizar la asociación y heredabilidad de variantes genéticas de los genes PTPN22, VDR y TNF con nefritis lúpica pediátrica (NLp) en familias colombianas. Materiales y métodos. Se realizó un estudio basado en familias con 46 tríos (caso/padre y madre). Se genotipificaron las variantes rs2476601 de PTPN22; rs361525 y rs1800629 de TNF; TaqI [rs731236], ApaI [rs7975232], BsmI [rs1544410] y FokI [rs2228570] de VDR mediante qPCR. Se estimó el efecto de la sobretransmisión del alelo de riesgo de padres a hijos y el desequilibrio de ligamiento de los loci VDR y TNF. Resultados. Se observó que el alelo A de rs2476601 en PTPN22 se distribuyó en el 8,69 % [n=16] de los padres mientras que en los casos es de 19,5 % [n=18] al igual que es sobretransmitido de padres a hijos 17 veces más con relación al alelo G (p=0,028). Los polimorfismos de TNF y VDR no se mostraron en desequilibrio de transmisión. Las variantes TaqI, ApaI y BsmI del VDR se mostraron en desequilibrio de ligamiento. Conclusión. Estos hallazgos muestran una asociación del polimorfismo rs2476601 de PTPN22 con NLp debido a su sobretransmisión en el grupo de familias estudiadas.Ítem Association of FokI polymorphism of the VDR genewith systemic lupus erythematosus in anadolescent population of the Colombian Caribbean(Elsevier, 2023) Garavito, Gloria; Fang, Luis; Domínguez-Vargas, Alex; Moreno-Woo, Ana; López-Luch, Guillermo; Iglesias, Antonio; Aroca, Gustavo; Egea, EduardoVitamin 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.Ítem Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community: In search of shared genetic markers(Elsevier, 2024) Garavito-De Egea, Gloria; Domínguez-Vargas, Alex; Vélez, Jorge I.; Aroca, Gustavo; Fang, Luis; Navarro-Quiroz, Elkin; Espitaleta, Zilac; Del Toro-Camargo, Kenny; Martínez-Ariza, Leticia; González-Vargas, Tatiana; García, Susana; Arcos-Burgos, MauricioIn summary, our study outlines oligogenic common variation underpinning the susceptibility to develop T1D. These genetic polymorphisms are also shared by patients suffering from other diseases such as LN and JIA, indicating that the shared genetic architecture defined by pleiotropy and epistasis shapes the genetic susceptibility of these disorders in this multiethnic population. Given the predicted functional nature of these genetic variants, it is very likely that in this understudied multiethnic population, genes harboring these mutations are major contributors to AID immunopathology and provide new insights into the autoimmune tautology in this group of diseases.Ítem Exploring the interplay of MTHFR and FGG polymorphisms with serum levels of adiponectin and leptin in pediatric lupus nephritis: a pilot study(Springer Nature, 2024) Garavito De Egea, Gloria; Domínguez‑Vargas, Alex; Fang, Luis; Pereira‑Sanandrés, Nicole; Rodríguez, Jonathan; Aroca‑Martinez, Gustavo; Espítatela, Zilac; Malagón, Clara; Iglesias‑Gamarra, Antonio; Moreno‑Woo, Ana; López‑Lluch, Guillermo; Egea, EduardoBackground Adiponectin and leptin are pivotal in the regulation of metabolism. Pediatric lupus nephritis (pLN), a manifestation of childhood systemic lupus erythematosus (SLE) affecting the kidneys, is associated with impaired adipokine levels, suggesting a role in pLN pathogenesis. The aim of this study was to explore the potential relationship between specific single-nucleotide polymorphisms (SNPs)—methylenetetrahydrofolate reductase (MTHFR) rs1801131 and fibrinogen gamma chain (FGG) rs2066865—and the serum levels of leptin and adiponectin in patients with pLN. Methods Ninety-eight pLN patients and one hundred controls were enrolled in the study. Serum leptin and adiponectin levels were measured using ELISA. DNA extraction and real-time PCR genotyping were performed for MTHFR rs1801131 and FGG rs2066865 SNPs. Results Compared to healthy controls, pLN patients exhibited significantly greater serum leptin (11.3 vs. 18.2 ng/ mL, p < 0.001) and adiponectin (18.2 vs. 2.7 ug/mL, p < 0.001). Adiponectin levels were positively correlated with proteinuria (p < 0.05), while leptin levels positively correlated with proteinuria, SLE disease activity index-2000 (SLEDAI-2K), and cyclophosphamide usage (all p < 0.05). There was no significant association between MTHFR rs1801131 or FGG rs2066865 SNPs and pLN in either codominant or allelic models (all p > 0.05). However, the AG genotype of FGG gene rs2066865 SNP was significantly associated with high leptin levels (> 15 ng/mL) (p = 0.01). Conclusion Serum adiponectin and leptin levels are associated with pathological manifestations of pLN. High leptin levels are associated with the AG genotype of FGG rs2066865 SNP in pLN patients, suggesting direct involvement in disease progression and potential utility as a disease biomarker.