María Eugenia Camargo

Universidad Centro Occidental Lisandro Alvarado, UCLA, Barquisimeto, Estado Lara, Venezuela

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Publications (11)4.24 Total impact

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    ABSTRACT: Objective: The global burden of diabetes mellitus will impact strongly American countries in the coming decades. Type 2 diabetes mellitus (T2DM) is a multifactorial disease and the basis for its genetic susceptibility remains not fully understood. Different population studies have demonstrated that variants of the TCF7L2 gene are strongly associated with an increased risk of T2DM. Moreover, institutions or countries with limited budget to conduct genetic research need cost effective methods for detecting DNA variants. Subjects and methods: We standardized a rapid and simple allele-specific PCR method for genotyping the rs12255372 single nucleotide polymorphism (SNP) in a pilot study exploring the association of three TCF7L2 polymorphisms (rs7903146, rs12255372 and DG10S478) with T2DM in 70 patients and 73 controls from Venezuela. Results: The performance of the designed allele-specific PCR reaction for rs12255372 genotyping was reliable and accurate. Patients carrying the TCF7L2 rs7903146 T allele (CT + TT genotypes) and heterozygous CT genotype had a significantly higher risk for T2DM (OR = 2.9 and 2.3, respectively). Although rs12255372 and DG10S478 risk alleles predominated in T2DM group no statistical significance was found. Conclusions: We developed a novel allele-specific PCR method for easier and rapid detection of rs12255372 polymorphism without the use of expensive instrumentation and reagents. Our study in a relatively small sample of the Venezuelan population replicated the association of the rs7903146 SNP with T2DM. Further studies with larger sample size and more biochemical data should be conducted to explore the genetic basis of T2DM susceptibility in Venezuela.
    Arquivos Brasileiros de Endocrinologia & Metabologia 07/2015; 59(4):1-6. DOI:10.1590/2359-3997000000064 · 0.68 Impact Factor
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    ABSTRACT: Gastric cancer remains one of the leading causes of death in the world, being Central and South America among the regions showing the highest incidence and mortality rates worldwide. Although several single nucleotide polymorphisms (SNPs) identified in the chromosomal region 8q24 by genome-wide association studies have been related with the risk of different kind of cancers, their role in the susceptibility of gastric cancer in Latin American populations has not been evaluated yet. Hereby, we performed a case-control study to explore the associations between three SNPs at 8q24 and gastric cancer risk in Venezuelan patients. We analyzed rs1447295, rs4733616 and rs6983267 SNPs in 122 paraffin-embedded tumor samples from archival bank and 129 samples with chronic gastritis (obtained by upper endoscopy during the study) from the Central Hospital of Barquisimeto (Lara, Venezuela). Genotypes were determined by PCR-RFLP reactions designed in this study for efficient genotyping of formalin-fixed/paraffin-embedded tissues. No significant differences in genotype frequencies between case and control groups were found. However, carriers of the homozygous TT genotype of SNP rs4733616 had an increased risk of developing poorly differentiated gastric cancer according to the codominant (OR=3.59, P=0.035) and the recessive models (OR=4.32, P=0.014, best-fitting model of inheritance), adjusted by age and gender. Our study suggests that the SNP rs4733616 is associated with susceptibility to poorly differentiated gastric cancer in Venezuelans. Additional studies are needed to further interrogate the prognostic value of the rs4733616 marker in this high-risk population for gastric cancer. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; 566(1). DOI:10.1016/j.gene.2015.04.081 · 2.08 Impact Factor
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    ABSTRACT: Slow drug degradation by CYP enzymes can lead to its accumulation in the body with subsequent toxic effects. CYP2D6 is involved in the metabolism of many toxicologically important drugs such as tricyclic antidepressants, commonly implicated in fatal drug poisonings. Since in human populations the gene coding for this enzyme exhibits high genetic polymorphism, they are of major pharmacogenetic importance. The aim of this work is to describe the distribution of genetic polymorphisms of CYP2D6 responsible for poor and intermediate metabolizers phenotypes in Venezuelan population and provide guidance on the importance of conducting postmortem forensic examinations to elucidate the role of genetic variation in drug intoxications. We carried out the analysis of CYP2D6*3, *4, *5, *6 and 10* alleles of 110 unrelated healthy individuals by allele-specific PCR tetra-primer. The allelic frequencies obtained for *4 (15.9%) and *10 (16.4%) in the Venezuelan population highlights the importance of CYP2D6 genotyping in cases where a high concentration of a drug metabolized by this route has been used, without suspicion of acute overdose.
    Forensic Science International Genetics Supplement Series 12/2009; 2(1):483-484. DOI:10.1016/j.fsigss.2009.08.044
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    ABSTRACT: Codon 72 polymorphism of the tumor suppressor gene TP53 has been associated with a higher risk in the development of several types of cancer. The polymorphism results in a variant protein with either an arginine (CGC) or a proline residue (CCC). The aim of this study was to analyze the association of the TP53 codon 72 polymorphism with the risk of developing gastric cancer in a high-risk population from the central-western region of Venezuela. DNA was extracted from paraffin-embedded gastric adenocarcinoma biopsies (n=65) and endoscopic biopsies from chronic gastritis patients (n=87). TP53 codon 72 polymorphism was determined by PCR-RFLP from all samples. Patients with gastric cancer had a significantly higher frequency (P = 0.037) of the Arg allele than those with chronic gastritis. A logistic regression analysis suggested that Arg carrier individuals had a 4.6-fold higher risk (95% CI 1.0-21.3) of developing gastric cancer. An increment of the Arg/Arg genotype was observed in poor-differentiated gastric adenocarcinoma (OR: 3.1; 95% CI 1.0-9.2), and of the Arg/Pro genotype in well/moderate-differentiated adenocarcinoma samples (OR: 3.5; 95% CI 1.1-11.0), when comparing within the gastric cancer samples; and the last group also when contrasting it with chronic gastritis patients (OR: 2.4; 95% CI 1.1-5.2). The results of this study suggest that the carriage of the Arg allele could be associated with the development of gastric cancer in this Venezuelan population.
    Investigación clínica 07/2009; 50(2):153-61. · 0.49 Impact Factor
  • Investigación clínica 06/2009; 50(2):153-161. · 0.49 Impact Factor
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    Acta Biologica Colombiana 04/2009; 14(1):185-194.
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    Acta Biologica Colombiana 04/2009; 14(1):195-202.
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    ABSTRACT: Telomeres are nucleoprotein complexes that protect the ends of eucaryotic chromosomes from degradation and recombination. In humans, telomeres measure 10-12 kbp in normal somatic cells, but they scarcely reach 1-2 kbp in tumor cells of rapid growth, due to the incomplete replication of these structures in each mitotic division. Telomeres shorten with age, which can be associated to genomic instability and to an increment of the risk of suffering from cancer. The standard method to measure the telomere length is the analysis of telomeric restriction fragments by Southern blot. However, a precise determination is not possible when the DNA is broken into small fragments or if it is scarce. In this work, a slot blot assay was adapted to quantify the relative content, instead of the length, of telomeric DNA from paraffin-embedded archival specimens of colon adenocarcinoma. The telomeric DNA content could be reproducibly measured with hardly 75 ng of highly degraded genomic DNA by chemiluminescent detection for hybridization.
    Investigación clínica 01/2008; 48(4):485-93. · 0.49 Impact Factor
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    ABSTRACT: Telomeres are nucleoprotein complexes that protect the ends of eucaryotic chromosomes from degradation and recombination. In humans, telomeres measure 10-12 kbp in normal somatic cells, but they scarcely reach 1-2 kbp in tumor cells of rapid growth, due to the incomplete replication of these structures in each mitotic division. Telomeres shorten with age, which can be associated to genomic instability and to an increment of the risk of suffering from cancer. The standard method to measure the telomere length is the analysis of telomeric restriction fragments by Southern blot. However, a precise determination is not possible when the DNA is broken into small fragments or if it is scarce. In this work, a slot blot assay was adapted to quantify the relative content, instead of the length, of telomeric DNA from paraffin-embedded archival specimens of colon adenocarcinoma. The telomeric DNA content could be reproducibly measured with hardly 75 ng of highly degraded genomic DNA by chemiluminescent detection for hybridization.
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    Morán · M Espinoza · M E Camargo · R Tovar · E Valderrama · M A Chiurillo
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    ABSTRACT: RESUMEN En todo el mundo, así como en Venezuela, el cáncer de cuello uterino está ubicado como la segunda causa de muerte en la población femenina. La asociación entre VPH y carcinoma de cuello uterino está bien definida, y el riesgo de sufrir de carcinoma epidermoide de cuello uterino asociado a los tipos de alto riesgo, principalmente VPH 16, ha sido evidenciado en múltiples trabajos. Con el fin de determinar la prevalencia de tres de los tipos de VPH de alto riesgo más frecuentes en el mundo, en la población que atiende el Hospital Central Antonio María Pineda de Barquisimeto (HCAMP), se realizó el presente estudio en 54 biopsias de archivo del Servicio de Anatomía Patológica del HCAMP con diagnóstico de carcinoma invasor de cuello uterino. Por medio de la técnica de PCR se analizó en cada muestra la presencia de ADN de los tipos de VPH 16, 18 y 31. Los resultados mostraron que el 96,3% de las muestras fueron positivas a la detección de VPH. De ellas, el 75,93% fueron tipificadas como VPH 16, 3,70% de VPH 18 y 1,85% de VPH 31. El 14,82% de las muestras pertenecen a un genotipo diferente a los estudiados. Los resultados coinciden con otros a nivel mundial, donde el VPH de alto riesgo tipo 16 es el más frecuente asociado a cáncer de cuello uterino. Se concluye sobre la necesidad de implementar técnicas moleculares para la tipificación de VPH en nuestra región que ayuden al diagnóstico y posterior manejo de las pacientes infectadas con el virus. ABSTRACT Worldwide, as well as in Venezuela, the cervical cancer is located as the second cause of death in the women population. The association between VPH and cervical carcinoma is very strong, and the risk of suffering squamous cell cervical carcinoma associated to high risk types, mainly HPV 16, it has been evidenced in multiple works. With the purpose of determining the prevalence of three more frequent high-risk HPV types in the world, in the population treated at the Hospital Central Antonio María Pineda at Barquisimeto (HCAMP), we were carried out the present study in which the presence of DNA of the HPV types 16, 18 and 31was detected in 54 Paraffin-embedded biopsies of the Department of Pathological Anatomy of the HCAMP with a confirmed histological diagnosis of invasive cervical carcinoma by the PCR technique. The results showed that 96,3% of the samples were positive for HPV DNA. Of them, 75,93% were typed as HPV 16, 3,70% of HPV 18 and 1,85% of HPV 31. 14,82% of the samples belongs to a genotype different to those studied here. The results coincide with others at world level, where the high-risk HPV type 16 is the more frequent associated to cervical cancer. We conclude about the necessity to implement molecular techniques for the detection and typing of VPH in our region that would help the clinical management of the patients infected with the virus.
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    Yeinmy Morán · Elvis Valderrama · María Eugenia Camargo · María Belén Rivero