Asociación entre el gen de caveolina 1 (cav1) y el riesgo cardiovascular en adultos
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caveolina 1
enfermedades cardiovasculares
polimorfismo de nucleótido simple
estudios de asociación genética
América Latina

How to Cite

Mora García, G., Ruiz Díaz, M. S., Alario Bello, Ángelo, Gómez Camargo, D., & Gómez Alegría, C. (2018). Asociación entre el gen de caveolina 1 (cav1) y el riesgo cardiovascular en adultos. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 5(1), 15–21.


La caveolina 1 es una proteína estructural que interviene en diversos procesos metabólicos. En estudios de asociación genética, el gen que la codifica CAV1 (7q31.2) se ha asociado a resistencia a la insulina, hipertensión, hipertrigliceridemia y c-HDL bajo. Sin embargo, se desconoce si variantes en CAV1 se asocian a obesidad e incremento en el riesgo cardiovascular (RCV).

Objetivo: Analizar la posible asociación entre variantes en CAV1 con el RCV en población del caribe colombiano.
Metodología: Se realizó un estudio de asociación genética con 595 adultos de Cartagena de Indias. Se hizo la genotipificación de los polimorfismos de nucleótido simple (SNPs): rs3779512, rs926198, rs10207569, rs11773845, rs7804372, rs1049337. El RCV fue definido mediante el puntaje derivado del estudio de Framingham. Para estimar la asociación entre las variables de estudio se realizó un análisis de varianza ajustado y fueron construidos árboles de regresión. Se aplicó el ajuste de Bonferroni para pruebas múltiples, donde fuera necesario.
Resultados: La variante rs1049337 se encontró asociada con el incremento del RCV (p=0,0001). Los sujetos con el genotipo TT en este locus tuvieron un mayor puntaje de RCV, +4,1 IC95% [0,8-8,0] en comparación con CC (p=0,03) y +4,3 IC95% [0,3-8,4] con CT (p=0,03). El árbol mostró que en el grupo TT (rs1049337) presentaba un mayor puntaje si los sujetos además contaban con el genotipo TT para rs3779512.
Conclusiones: Las variantes rs1049337 y rs3779512 se encuentran asociadas a incremento en el puntaje de RCV.
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