Papers by Adriana Mimbacas
Human biology, 2006
mtDNA Amerindian polymorphisms were studied in 108 inhabitants of Montevideo, Uruguay, using PCR ... more mtDNA Amerindian polymorphisms were studied in 108 inhabitants of Montevideo, Uruguay, using PCR RFLP analysis. Amerindian haplogroups were found in 20.4% of the sample. The frequency of Amerindian polymorphisms in Montevideo differed significantly from that observed in Tacuarembo´, a city about 400 km away, indicating the high level of variation within Uruguay. Results for mitochondrial markers indicate that admixture occurred primarily as a result of Amerindian females mating with European males.
Introduction: The disease NAFLD represents a diverse group of liver disease, characterized by fat... more Introduction: The disease NAFLD represents a diverse group of liver disease, characterized by fatty deposits (triglycerides) in the liver associated with the presence of metabolic syndrome. It is a complex and multifactorial disease influenced by lifestyle, nutritional and genetic factors. The -493G / T variant in PMTT gene could be a molecular marker useful in the study of NAFLD. Objective: SNP genotyping -493G / T in the promoter of the gene that produces the PMTT analyzing whether there is an association of this SNP with the disease. Results: 41 individuals with NAFLD (cases) and 42 individuals (controls) were analyzed. Statistically significant differences in body mass index (BMI) and some variables corresponding lipid profile and liver profile found. No difference was found in the presence of genotypes G / G, G / T and T / T between the two groups. Conclusions: genetic findings internationally are contradictory and different ethnic conformations of populations and the degree of...
Human Biology: The Official Publication of the American Association of Anthropological Genetics, 2005
mtDNA Amerindian polymorphisms were studied in 108 inhabitants of Montevideo, Uruguay, using PCR ... more mtDNA Amerindian polymorphisms were studied in 108 inhabitants of Montevideo, Uruguay, using PCR RFLP analysis. Amerindian haplogroups were found in 20.4% of the sample. The frequency of Amerindian polymorphisms in Montevideo differed significantly from that observed in Tacuarembó, a city about 400 km away, indicating the high level of variation within Uruguay. Results for mitochondrial markers indicate that admixture occurred primarily as a result of Amerindian females mating with European males.
Genetics and Molecular Research, Mar 31, 2002
We conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which ... more We conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which is about half of the known affected individuals in the country. A relatively high proportion had a mild presentation, characterized by pancreatic sufficiency (28%), a strong pulmonary component (97%), and borderline sweat electrolyte measurements (25%). Mutational analysis of CF chromosomes demonstrated a relatively low incidence of the DeltaF508 allele (40%) and a large number of other cystic fibrosis conductance regulator mutations, with an overall detection rate of about 71%. Fifteen different mutations were detected in our patients: DeltaF508, G542X, R1162X, G85E, N1303K, R334W, R75Q, R74W, D1270N, W1282X, DeltaI507, 2789+5G-->A, R1066C, -816C/T, R553X, as well as RNA splicing variant IVS8-5T. This group of Uruguayan CF patients has some characteristics in common with other populations of similar origin (Hispanics), as well as some unique characteristics.
Copyright © 2015 Matias Fabregat et al.This is an open access article distributed under the Creat... more Copyright © 2015 Matias Fabregat et al.This is an open access article distributed under the Creative CommonsAttribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The complex diagnosis and treatment of diabetes highlight the need for markers to define how to monitor patients correctly during the course of their disease. Different studies demonstrate the existence of patients who cannot be clearly classified. We have previously shown that it is possible to differentiate “atypical diabetic patients ” based on genotyping the HLA. In this work we show that the analysis of non-HLA related to type 1 diabetes in the INS-VNTR, SNP rs689, and rs3842753 improves the identification of these patients. We genotyped 913 individuals comprising controls from the general population and “classic ” and “atypical ” diabetic patients. We compared the distribution of these loci and analyzed linkage disequilibrium.Th...
P-Selectin as a Platelet Activation Marker and Cardiovascular Risk Prediction Factor. Differences... more P-Selectin as a Platelet Activation Marker and Cardiovascular Risk Prediction Factor. Differences between its Two Isoforms Using Flow Cytometry and Elisa Analyses Romanelli G1*, Olivera-Bravo S2, Santiñaque FF3, Soto E4, Javiel G5,6, López-Carro B3, Folle GA3, Mimbacas A1 1Department of Biodiversity and Genetics, Clemente Estable Biological Investigations Institute (IIBCE) 2Department of Cellular and Molecular Neurobiology (IIBCE) 3Flow Cytometry and Cell Sorting Core (IIBCE) 4Department of Cardiology, Healthcare Center of the Uruguayan Medical Syndicate (CASMU-IAMPP) 5Diabetology Service, CASMU-IAMPP, 6UDA-DIABETES, Pasteur Hospital, Public Health State Department, Montevideo, Uruguay *Corresponding author: Gerardo Romanelli MSc, Department of Biodiversity and Genetics, Clemente Estable Biological Investigations Institute (IIBCE), Av.Italia 3318, Uruguay, Tel : +59824861417; Email: [email protected] Received: 09-01-2015 Accepted: 09-23-2015 Published: 10-02-2015 Copyright: © 2015...
Genetics and molecular research : GMR, 2004
Cystic fibrosis is the most common hereditary disease in populations of European descent, with it... more Cystic fibrosis is the most common hereditary disease in populations of European descent, with its prevalence depending on the populations and ethnic groups studied. In contrast to Europe and North America, there is little information about this disease in Latin America. Uruguay currently has a human population of 3,000,000, with a low rate of miscegenation and no remaining isolated Amerindian groups. In the present study, we estimated the prevalence of cystic fibrosis in this country based on the detection of DeltaF508 mutation carriers in 500 unrelated individuals and on the frequency of individuals homozygous for this mutation within the affected population. The latter was calculated from the frequency of the different mutations and genotypes observed in a sample of 52 previously described patients with confirmed cystic fibrosis. A theoretical estimate of the prevalence of cystic fibrosis based on anthropological data suggested a frequency of 25 affected individuals/100,000 inhab...
La enfermedad celíaca (EC) es una afección autoinmune que presenta asociación con determinados ge... more La enfermedad celíaca (EC) es una afección autoinmune que presenta asociación con determinados genes del sistema HLA. Se ha descrito que ciertas variantes (alelos) HLA de clase II DQ y DR están involucradas en la susceptibilidad primaria de esta enfermedad. La frecuencia de los alelos HLA varía entre los diferentes grupos étnicos. La población actual de nuestro país presenta características étnicas particulares y, hasta el momento de realizado este trabajo, no se conocía la asociación de estos alelos con la enfermedad. Se presentan, por tanto, los datos obtenidos mediante determinación molecular de alelos HLA de clase II de cadena beta DQ y DR para una muestra total de 37 individuos (pacientes y controles). Se calculó el riesgo relativo (RR) y la fracción etiológica (FE) para cada alelo, genotipo y haplotipo DQB1-DRB1. Se determinó que los alelos DQB1*0201 y DRB1*03 están positivamente asociados a los pacientes (RR=10,7, p<0,001 y RR=13, p<0,001 respectivamente). Cuando se analizaron los haplotipos, fue precisamente la combinación de estos alelos la que presentó una asociación positiva con la EC. Estos resultados permitieron establecer que, si bien existe mezcla étnica en nuestra población, los alelos involucrados en la susceptibilidad de la enfermedad celíaca son los mismos a los descritos en la literatura variando la frecuencia y, por lo tanto, el riesgo asociado a cada alelo.
Las nuevas técnicas de biología molecular aplicadas al diagnóstico genético y el uso de marcadore... more Las nuevas técnicas de biología molecular aplicadas al diagnóstico genético y el uso de marcadores moleculares posibilitan el estudio de los mecanismos que subyacen en la predisposición individual y familiar a padecer determinadas enfermedades. Para llevar a cabo estos estudios, es necesario en primera instancia establecer cuál es la prevalencia de dichos marcadores en la población general. El estudio se realizó empleando una muestra de 108 individuos seleccionados por muestreo simple del banco de ADN de 500 individuos representativos de nuestra población, que
Introduccion: previamente se ha demostrado que los pacientes diabeticos poseen una incidencia aum... more Introduccion: previamente se ha demostrado que los pacientes diabeticos poseen una incidencia aumentada de patologias micro y macrovasculares. En la exploracion de posibles determinantes aparece como candidato atractivo el gen de la enzima convertidora de angiotensina (ECA) el cual presenta de acuerdo al polimorfismo InDel existente, un aumento de la concentracion enzimatica en sangre asociado a enfermedades vasculares.Objetivo: se plantearon como objetivos establecer la prevalencia del polimorfismo del gen de la ECA, en pacientes diabeticos y comparar las frecuencias con las halladas para la poblacion general de manera de revelar si existe asociacion del locus con la diabetes mellitus.Material y metodo: la poblacion estudiada consistio en 131 individuos con diagnostico certero de diabetes segun criterios de la American Diabetes Association. Se hallaron las frecuencias genicas y genotipicas del polimorfismo InDel del gen de la ECA mediante la tecnica de reaccion en cadena de la poli...
European journal of epidemiology, 2004
Susceptibility to the type 1 diabetes is genetically controlled and there is an increased risk as... more Susceptibility to the type 1 diabetes is genetically controlled and there is an increased risk associated with the presence of some specific alleles of the human leukocyte antigens class II loci (DQA1 and DQB1 genes). The purpose of this study is to evaluate the association between type 1 diabetes and HLA DQ alleles using case-parents trios in the admixed population of Uruguay composed by a mixture of Caucasian, Amerindian and Negroid populations. DQA1 and DQB1 genotyping was performed by polimerase chain reaction followed by oligospecific probes hybridization in 51 case-parents trios. The transmission disequilibrium test was used for detecting differential transmission in the HLA DQ loci. DQB1*0302 was the only allele for which preferential transmission is suggested (probability of transmission = 67.56%; exact p-value TDT = 0.047 uncorrected for multiple comparisons). DQA1*0301 allele showed a trend for preferential transmission without achieving statistical significance. This resu...
Genetics and molecular research : GMR, 2003
We studied HLA DQB1 allele frequencies and the relative risk (RR) of various genotypes in 72 type... more We studied HLA DQB1 allele frequencies and the relative risk (RR) of various genotypes in 72 type 1 diabetic patients and 40 control individuals in Uruguay. This is a tri-racial (Caucasian, Black and Indo-American) mixed population. The products of the polymerase chain reaction amplifications were hybridized with oligonucleotides by allele-specific oligonucleotide reverse or dot blot methods. Significant differences between these two groups were observed only for allele DQB1*0302 (35%, RR = 7.34, P<0.001). The frequency of the alleles carrying a non-aspartic acid residue at position 57 was significantly higher in the diabetic patients (85 vs 53%, P<0.001). In contrast, the frequency of Asp alleles was negatively associated with type 1 diabetes (RR = 0.20, P<0.001). The genotype DQB1*0302/DQB1*0201 (33%, RR = 5.41, P<0.05) was positively associated with this disease. The genotype frequencies associated with type 1 diabetes in our population were significantly different fr...
... 1. Eikelboom JW, Lonn E, Genest J, Hankey G, Yusuf S. Homocyst(e)ine and cardiovascular disea... more ... 1. Eikelboom JW, Lonn E, Genest J, Hankey G, Yusuf S. Homocyst(e)ine and cardiovascular disease: a critical review of epidemiological ... The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus from the American Diabetes Association, Alexandria, Virginia ...
World Journal of Diabetes
AIM To investigate if mutations in TCF7L2 are associated with "atypical diabetes" in the Uruguaya... more AIM To investigate if mutations in TCF7L2 are associated with "atypical diabetes" in the Uruguayan population.
Journal of pediatric genetics, 2012
The concept of a new form of diabetes, with signs of both types 1 and 2, has not been often consi... more The concept of a new form of diabetes, with signs of both types 1 and 2, has not been often considered, until recently. It is of immense interest to explore the role of the admixture that characterizes the Uruguayan population (higher and different from other Latin America countries) for the presence of such expression of that particular disease. We describe here a child who possibly presents with this expression. He had typical signs of both diabetic conditions: type 1 (young age, positive immunologic and genetic markers, ketoacidosis) and type 2 (obesity [body mass index = 36 kg/m(2)] and acanthosis nigricans). In spite of complying with the established guidelines, therapeutic and nutritional control, quality of life and good metabolic control, the patient's obesity had been continually increasing. Looking for a genetic explanation, we studied three single nucleotide polymorphisms involved in three different metabolic pathways (peroxisome proliferator-activated receptor gamma ...
Genetics and Molecular Research Gmr, Feb 1, 2004
Cystic fibrosis is the most common hereditary disease in populations of European descent, with it... more Cystic fibrosis is the most common hereditary disease in populations of European descent, with its prevalence depending on the populations and ethnic groups studied. In contrast to Europe and North America, there is little information about this disease in Latin America. Uruguay currently has a human population of 3,000,000, with a low rate of miscegenation and no remaining isolated Amerindian groups. In the present study, we estimated the prevalence of cystic fibrosis in this country based on the detection of ∆F508 mutation carriers in 500 unrelated individuals and on the frequency of individuals homozygous for this mutation within the affected population. The latter was calculated from the frequency of the different mutations and genotypes observed in a sample of 52 previously described patients with confirmed cystic fibrosis. A theoretical estimate of the prevalence of cystic fibrosis based on anthropological data suggested a frequency of 25 affected individuals/100,000 inhabitants. However, our data indicated that the true prevalence in the population was considerably lower (6.9 cases/100,000 inhabitants).
Revista Medica Del Uruguay, 2009
Revista Uruguaya De Cardiologia, Nov 1, 2004
... 1. Eikelboom JW, Lonn E, Genest J, Hankey G, Yusuf S. Homocyst(e)ine and cardiovascular disea... more ... 1. Eikelboom JW, Lonn E, Genest J, Hankey G, Yusuf S. Homocyst(e)ine and cardiovascular disease: a critical review of epidemiological ... The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus from the American Diabetes Association, Alexandria, Virginia ...
Las nuevas técnicas de biología molecular aplicadas al diagnóstico genético y el uso de marcadore... more Las nuevas técnicas de biología molecular aplicadas al diagnóstico genético y el uso de marcadores moleculares posibilitan el estudio de los mecanismos que subyacen en la predisposición individual y familiar a padecer determinadas enfermedades. Para llevar a cabo estos estudios, es necesario en primera instancia establecer cuál es la prevalencia de dichos marcadores en la población general. El estudio se realizó empleando una muestra de 108 individuos seleccionados por muestreo simple del banco de ADN de 500 individuos representativos de nuestra población, que
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Papers by Adriana Mimbacas