dc.contributor | Yunis, Juan José | |
dc.contributor | Yunis, Luz Karime | |
dc.contributor | Rodriguez Vallejo, Luisa Fernanda [0000-0001-9223-9083] | |
dc.contributor | Rodriguez Vallejo, Luisa Fernanda [0000-0001-9223-9083] | |
dc.creator | Rodríguez Vallejo, Luisa Fernanda | |
dc.date.accessioned | 2023-07-07T15:27:10Z | |
dc.date.accessioned | 2023-08-25T14:01:28Z | |
dc.date.available | 2023-07-07T15:27:10Z | |
dc.date.available | 2023-08-25T14:01:28Z | |
dc.date.created | 2023-07-07T15:27:10Z | |
dc.date.issued | 2023-06-21 | |
dc.identifier | https://repositorio.unal.edu.co/handle/unal/84164 | |
dc.identifier | Universidad Nacional de Colombia | |
dc.identifier | Repositorio Institucional Universidad Nacional de Colombia | |
dc.identifier | https://repositorio.unal.edu.co/ | |
dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8427047 | |
dc.description.abstract | Colombia es un país multiétnico donde la población con mezcla europea (AE) predominó después del descubrimiento de América en 1942. Sin embargo, una gran proporción de la población son afrodescendientes (AD) con 6.8% y habitan las costas pacífica y caribe de Colombia, adicionalmente amerindios (Am) con 4.4% de la población con más de 80 tribus distribuidas a través del territorio. En este país, las leucemias son el 5° cáncer más prevalente y la leucemia mieloide aguda tiene una incidencia general de 2 – 3 casos por 100.000 hab. La tasa de mortalidad en pacientes jóvenes ha caído en los últimos años, pero la quimioterapia intensiva se ha asociado con mayores tasas de mortalidad asociada con la terapia (TRM) y recaídas. Para esta condición el tratamiento está basado en citarabina y antraciclinas y por esta razón quisimos conocer la distribución de 8 variantes que han sido asociadas con modificaciones de la respuesta a estos tratamientos, dentro de las tres principales poblaciones de nuestro país. Nosotros analizamos las frecuencias alélicas y genotípicas de los genes ABCB1, rs1045642 (3435C>T), rs1128503 (1236T>C), rs2032582 (2677T>G/A); CDA, rs2072671 (79A>C), rs532545 (-451C>T); DCK, rs2306744 (-201C>A) por medio de un ensayo de SNaPshot y la presencia o ausencia de los alelos GSTT1 y GSTM1 en una muestra de población colombiana mezclada, afrodescendientes y amerindios de Colombia con el fin de caracterizar estas variantes genéticas a nivel poblacional, como también estimar las frecuencias relativas de genotipos de riesgo para citarabina y antraciclinas. Frecuencias alélicas y genotípicas, desviación del equilibrio de Hardy–Weinberg, heterocigosis observadas y esperadas y análisis pareado de Fst fueron calculados, sin encontrar desviaciones significativas del HWE o subestructura genética en los grupos de población analizados. Adicionalmente, se encontraron diferencias estadísticas entre las frecuencias alélicas y genotípicas de estas variantes (P=0.05) en los tres grupos de población. En general, altas frecuencias para genotipos de riesgo fueron encontradas entre la población afrodescendiente, seguido de la colombiana con mezcla y amerindia, estableciendo diferentes perfiles farmacogenéticos para cada población de nuestro país. Nuestros resultados resaltan la importancia de establecer el patrón de ancestría de poblaciones analizadas en estudios farmacogenéticos, al mismo tiempo, reflejan la relevancia de caracterizar la población colombiana que se caracteriza por una alto nivel de mezcla, para correlacionar genotipos asociados con toxicidad cuando estos individuos requieren alguna terapia farmacológica. (Texto tomado de la fuente) | |
dc.description.abstract | Colombia is a multi-ethnic country where the European-admix (AE) population predominate after the arrival of Europeans in what is now known as the Americas in 1492. However, a considerable proportion of the population are African descent (AD) (6.8%) that inhabit the Pacific and Caribbean coast and amerindians (Am) with 4.4% of population and more than eighty different tribes distributed throughout the territory. In this country leukemias are the fifth most prevalent cancer, and acute myeloid leukemia have a general incidence to 2 -3 cases per 100.000 hab. The mortality rate in young patients has dropped in recent years but the intensive chemotherapy has been associated with higher rates of mortality related to therapy (TRM) and relapse. For this disease, the treatment is based in cytarabine and anthracyclines and for this reason we wanted to know the distribution of 8 polymorphisms within the three main populations of our country, which have been associated with modifications in response to this treatment. In this work we analyzed the genotype and allele frequencies of ABCB1 gene, rs1045642 (3435C>T), rs1128503 (1236T>C), rs2032582 (2677T>G/A); CDA gene, rs2072671 (79A>C), rs532545 (-451C>T); DCK gene, rs2306744 (-201C>A) by a SNaPshot assay, and the presence/absence of the GSTT1 and GSTM1 alleles in a sample of AE, AD and Am of Colombia, in order to characterize these gene variants at the population level, as well as, to estimate relative frequencies of cytarabine and anthracycline risk genotypes. Allelic and genotype frequencies, deviations from Hardy–Weinberg equilibrium, observed and expected heterozygosities, and pairwise FST values were calculated and do not deviate significantly from HWE was found or genetic substructure in the population groups studied, in addition significantly different allele and genotype frequencies were found for these gene variants in the three main ethnic groups that compose the Colombian population, with level of statistical significance to P< 0.05. In general, higher frequencies for risk genotypes where were find among AD followed by EA and Am Populations, establishing different pharmacogenetic profile for each population in our country. Our results highlight the importance of setting up the ancestry pattern of population analysis in pharmacogenetics studies, at the same time reflect the relevance of characterize the population that inhabit our country. Our results highlight the importance of analyzing pharmacogenetic gene variants in highly admix populations to correlate genotypes associated with toxicity outcomes when these individuals need drug therapies. | |
dc.language | spa | |
dc.publisher | Universidad Nacional de Colombia | |
dc.publisher | Bogotá - Medicina - Maestría en Genética Humana | |
dc.publisher | Facultad de Medicina | |
dc.publisher | Bogotá,Colombia | |
dc.publisher | Universidad Nacional de Colombia - Sede Bogotá | |
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dc.rights | Atribución-NoComercial 4.0 Internacional | |
dc.rights | http://creativecommons.org/licenses/by-nc/4.0/ | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.title | Determinación de las frecuencias alélicas y genotípicas de 8 variantes en los genes DCK, CDA, ABCB1, GSTT1 y GSTM1 en una muestra de población colombiana de tres orígenes étnicos (afrodescendientes, nativo americanos y población colombiana mezclada) | |
dc.type | Trabajo de grado - Maestría | |