Introducción. La variabilidad genética del polimorfismo del gen APOE se considera un importante factor asociado a la predisposición a las enfermedades que afectan el metabolismo lipídico, a las enfermedades coronarias y a la enfermedad de Alzheimer, entre otras. En este sentido, es útil conocer este factor de riesgo en diferentes poblaciones y grupos étnicos. Objetivos. Analizar el polimorfismo del gen APOE y determinar las frecuencias alélicas y genotípicas de una muestra representativa de la población de Barranquilla, Colombia. Materiales y métodos. Se hizo en Barranquilla un estudio descriptivo y comparativo de 227 individuos no relacionados. Resultados. El alelo ε3 se presentó con mayor frecuencia (85 %), seguido del alelo ε4 (13 %) y, con menor frecuencia, el alelo ε2 (1,8 %). Los genotipos observados fueron los siguientes: ε3/ε3 en 71,8 %, ε3/ε4 en 24,2 %, ε2/ε3 en 2,2 %, ε2/ε4 en 1,3 % y ε4/ε4 en 0,4 %. El genotipo ε2/ε2 no se encontró en este estudio. La muestra representativa de la población estaba en equilibrio de Hardy-Weinberg. Conclusiones. Las frecuencias alélicas ε3 y el genotipo ε3/ε3 encontrados en la población estudiada, fueron similares a lo informado por la literatura científica en países como Brasil, México y Colombia, y en algunos grupos étnicos amerindios colombianos. No se encontró el genotipo ε2/ε2, resultado que coincide con otras poblaciones estudiadas a nivel mundial. La frecuencia del alelo ε4 y sus genotipos asociados en esta población, podría estar relacionada con la presencia de enfermedades como la hipercolesterolemia, el infarto de miocardio y la enfermedad de Alzheimer.Palabras clave: apolipoproteínas E, polimorfismo genético, población, alelos, Colombia. doi: http://dx.doi.org/10.7705/biomedica.v36i1.2612 APOE gene polymorphism analysis in Barranquilla, ColombiaIntroduction: The genetic variability present in the APOE gene polymorphism is considered an important factor associated with predisposition to diseases affecting lipid metabolism, as well as heart diseases and Alzheimer's disease, among others. Understanding it as a risk factor in different populations and ethnic groups is a useful tool. Objective: To analyze the APOE gene polymorphism and determine allelic and genotypic frequencies of a representative sample of population from Barranquilla, Colombia. Materials and methods:We performed a descriptive and comparative study. The sample size was 227 unrelated individuals from Barranquilla, Colombia Results: The most frequent allele was the ε3, with 85%, followed by the ε4 allele (13%) and ε2 (1.8%). The genotypes found were: ε3/ε3: 71.8%, ε3/ε4: 24.2%, ε2/ε3: 2.2%, ε2/ε4: 1.3% and ε4/ε4: 0.4%. The ε2/ε2 genotype was not found in this study. The sample exhibited the Hardy-Weinberg equilibrium. Conclusion: The frequency of the ε3 allele and the ε3/ε3 genotype was similar to that reported in the literature in countries like Brazil, Mexico, Colombia, and in some Colombian Amerindian ethnic groups. The ε2/ε2 genotype was absent. This result is consistent with those found in oth...

Introducción. La obesidad se considera un grave problema de salud pública y por ello se hacen esfuerzos en la búsqueda de genes como el LEP, el LEPR y el MC4R del sistema leptina-melanocortina, el cual opera en la regulación neuroendocrina de la ingestión y el equilibrio energético e influye en la patogenia de la enfermedad. Los resultados contradictorios en torno a la asociación de estos genes con la obesidad plantean la necesidad de nuevas investigaciones.Objetivo. Analizar los polimorfismos rs2167270 del gen LEP, rs1137101 del gen LEPR y rs17782313 del gen MC4R asociados con la obesidad y sus variables clínicas y bioquímicas en una muestra de pacientes adultos de Barranquilla.Materiales y métodos. Se estudiaron 111 personas obesas y 155 no obesas como controles. Los polimorfismos se determinaron mediante reacción en cadena de la polimerasa (PCR) en tiempo real. Se tomaron las medidas antropométricas, se evaluó la presión arterial y se hicieron pruebas bioquímicas.Resultados. No se encontraron diferencias estadísticas en la frecuencia alélica y genotípica de los polimorfismos en los grupos estudiados. En cuanto a las variables clínicas y bioquímicas, el genotipo CC del polimorfismo rs17782313 del gen MC4R, se asoció con un aumento de la presión arterial sistólica y, el alelo T y su genotipo homocigoto, con una disminución del colesterol HDL en los obesos. No se evidenció ningún efecto de los otros polimorfismos en estas variables.Conclusiones. Los polimorfismos rs2167270 del gen LEP, rs1137101 del gen LEPR y rs17782313 del gen MC4R, no se asociaron con obesidad en la población analizada. Se encontró que el polimorfismo rs17782313 del gen MC4R influyó en el aumento de la presión arterial sistólica y la disminución del colesterol HDL en las personas obesas.

Background: Developing methods to synthesize highly functionalized and complex 1,2,3-triazoles from various combinations of substrates remains a significant challenge in organic synthesis. Thus, to the best of our knowledge, an organocatalytic approach to synthesize 1,2,3-triazoles derived from fatty acids has not been explored. Objective: In this sense, we describe here the organocatalyzed synthesis and preliminary results of antitumor and cytotoxic activity of a range of 1,2,3-triazoles derived from fatty esters. Methods: To synthesize 1,2,3-triazoles 3 derived from fatty β-ketoesters, we performed the reaction of appropriate aryl azides 2a-j with β-ketoesters 1a-c in the presence of 5 mol% of DBU using DMSO as a solvent at 70 °C for 24 h. The viability of 5637 cells was determined by measuring the reduction of soluble MTT to water-insoluble formazan. The IC50 concentration that inhibits 50% of cell growth and the results were obtained by at least three independent experiments in triplicate for each test. Results: Through enolate-mediated organocatalysis, 1,2,3-triazoles 3 derived from fatty β-ketoesters were synthesized in moderate to excellent yields by reacting fatty esters 1 with aryl azides 2 in the presence of a catalytic amount of 1,8-diazabicyclo[5.4.0]undec-7-ene (5 mol%). All compounds derived from palmitic acetoacetate 1a were evaluated regarding induced cytotoxicity in vitro in a human bladder cancer cell line, and compounds 3a, 3d, 3e, and 3g were shown to be promising alternatives for bladder cancer treatment and presented the lowest inhibitory concentration of IC50. Conclusion: We described a synthetic procedure to prepare 1,2,3-triazoles derived from fatty β-ketoesters by DBU-catalyzed 1,3-dipolar cycloaddition reactions of fatty esters with different aryl azides. Compounds derived from palmitic acetoacetate were screened for antitumor and cytotoxic activity in vitro in human bladder cancer cell lines, and compounds 3a, 3d, 3e, and 3g showed potential to treat bladder cancer.

During coal-mining activities, many compounds are released into the environment that can negatively impact human health. Particulate matter, polycyclic aromatic hydrocarbons (PAHs), metals, and oxides are part of the complex mixture that can affect nearby populations. Therefore, this study was designed to evaluate the potential cytotoxic and genotoxic effects of coal residues on peripheral blood lymphocytes and buccal cells in individuals chronically exposed to them. We recruited 150 individuals who lived more than 20 years in the Loma-Colombia and 120 control individuals from the city of Barranquilla without a history of exposure to coal-mining. In cytokinesis-block micronucleus cytome (CBMN-Cyt) assay, signi cant differences in the frequency of micronucleus (MN), nucleoplasmic bridge (NPB), nuclear bud (NBUD), and apoptotic cells (APOP) were observed between the two groups. In buccal micronucleus cytome (BM-Cyt) assay, a signi cant formation of NBUD, karyorrhexis (KRX), karyolysis (KRL), condensed chromatin (CC), and binucleated (BN) cells was observed in the exposed group. Considering sociodemographic factors, a signi cant correlation was found between CBMN-Cyt-NBUD and vitamin consumption and between CBMN-Cyt-MN and CBMN-Cyt-APOP and meat consumption. Moreover, a signi cant correlation was found between BM-Cyt-KRL and vitamin consumption. Using Raman spectroscopy, a signi cant increase in the concentration of DNA/RNA bases, creatinine, polysaccharides and fatty acids was detected in the urine of individuals exposed to coal-mining compared to the control group. These results contribute to the discussion on the effects of coal-mining on nearby populations and the development of diseases due to chronic exposure to these residues.