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PDF. Pag, 61-72

Palabras clave

Asociación genética
población
haplotipo
ancestría genética
susceptibilidad genética genetic association study
SNPs
population
haplotype
genetic ancestry
genetic susceptibility

Cómo citar

Criollo-Rayo, A., Bohórquez, M. E., Lott, P., Carracedo, A., Tomlinson, I., CHIBCHA, C., Carvajal, L., & Echeverry, M. (2019). Estudio de la relación de la ancestría genética con el riesgo al cáncer colorrectal en Colombia. REVISTA DE LA ASOCIACION COLOMBIANA DE CIENCIAS BIOLOGICAS, 1(31), 61–72. https://doi.org/10.47499/revistaaccb.v1i31.183

Resumen

Introducción. El cáncer colorrectal es una carga para la salud pública en Colombia y el mundo. Estudios de asociación genética han identifi cado regiones cromosómicas asociadas a esta enfermedad, mostrando riesgo variable entre poblaciones, debido a la historia demográfi ca y la ancestría genética. Objetivo. Estudiar el riesgo que aportan 20 marcadores al cáncer colorrectal en Colombia, empleando 955 casos y 972 controles del consorcio CHIBCHA, analizando conjuntamente el efecto de la ancestría genética global y local. Metodología. Las muestras se genotipificaron usando microarreglos Axyom Affymetrix LAT y CUSTOME, para obtener los genotipos genómicos globales, incluyendo 20 SNPs de riesgo. Los análisis estadísticos se realizaron en PLINK (asociaciones),
ADMIXTURE (ancestría global), Elai (ancestría local) y R (modelos logísticos). Resultados. Once regiones cromosómicas resultaron asociadas presentando ORs entre 1.14 y 1.41 (p<0.05): 18q21.1, 19q13.11, 10p14, 14q.2.2, 20p12.3, 8q23.3, 6p21.2, 15q13.3 y 8q24.21. Una mayor ancestría europea se asoció con el riesgo a
nivel global (OR=3.016, IC 95%:1.162-7.894, p=0.00325), y a nivel cromosómico local se detectaron las regiones 6q23.2 (ORajustado=1.378, IC95%: 1.202-1.580, Pajustado=4.2e-6) y 4p13 (ORajustado=1.301, IC95%:1.137-1.489; Pajustado=0.00013). Conclusiones. La ancestría podría considerarse un factor en la explicación de la susceptibilidad en Colombia, indicando que la mezcla genética de origen amerindio y europeo, influye en la estructura poblacional y explicaría las diferencias en la incidencia del CCR entre poblaciones latinas y europeas.

https://doi.org/10.47499/revistaaccb.v1i31.183

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