Alelos -108C/T, L55M y Q192R de paraoxoasa 1 (pon 1) en población del eje cafetero de Colombia
Resumen
Resumen: la paraoxonasa 1 (pon 1) es una enzima integrada a las lipoproteínas de alta densidad (hdl); su actividad ha sido asociada con el efecto antioxidante de estas lipoproteínas. Una actividad reducida de las misma está asociada con enfermedad cardiovascular. La actividad de la enzima parece depender de sus polimorfismos (C-108T, L55M y Q192R), lo que los hace responsables de la variabilidad interindividual y entre las etnias. Objetivo: caracterizar genotípicamente los polimorfismos de la pon 1 en población mestiza colombiana. Métodos: se determinaron las frecuencias de los alelos rs705379 (-108C/T), rs 854560 (L55M) y rs 662 (Q192R), del gen pon 1 en 133 adultos sanos, con rasgos mestizos, de ambos sexos y no consanguíneos. La genotipificación se hizo por minisecuenciación (SnaPshot). Resultados: las frecuencias de los genotipos polimórficos fueron: -108 C/T (CC 34 %, CT 45 %, TT21 %), L55M (LL 50 %, LM 43 %, MM 7 %) y Q192R (QQ 42 %, QR 50 %, RR 8 %). Seis personas (4,5 %) tuvieron haplotipo de triple homocigoto nativo (CC/CC/AA). Conclusión: los resultados indican que en la población estudiada, las frecuencias genotípicas no eran diferentes a las descritas para otras poblaciones latinas y europeas. Además, no se observó ningún vínculo fuerte entre los tres loci estudiados.
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