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2008, Número 1

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Rev Endocrinol Nutr 2008; 16 (1)


Bases genéticas de la variación en los niveles plasmáticos de HDL-colesterol

Villarreal MMT

Idioma: Español
Referencias bibliográficas: 94
Paginas: 32-41
Archivo PDF: 143.22 Kb.


RESUMEN

Se sabe que existe una relación inversa entre los niveles plasmáticos de las lipoproteínas de alta densidad (HDL) y el riesgo de cardiopatía isquémica. Se calcula que entre 40 y 60% de la variación en los niveles de las HDL está determinada genéticamente y existe evidencia de que más de 50 diferentes genes podrían participar en la regulación de este rasgo fenotípico. Se han utilizado básicamente 2 estrategias para buscar genes que regulan los niveles plasmáticos de HDL: a) búsqueda de asociaciones con genes candidatos conocidos por participar en el metabolismo de las HDL; y b) búsqueda de otros genes mediante el escrutinio completo del genoma con el análisis de loci para rasgos cuantitativos. Estas estrategias han aportado evidencia de la participación de genes como ABCA1, APOA1, LCAT, CETP, LIPC, LPL y PON1 en este rasgo fenotípico en diferentes poblaciones incluyendo a México-Americanos. Recientemente se encontró que la variante R230C del gen ABCA1 es frecuente en la población mestiza mexicana, y que es un alelo de riesgo para presentar hipoalfalipoproteinemia. Esto representa un campo enorme de investigación de vital importancia para la prevención y el tratamiento de la aterosclerosis y la cardiopatía isquémica en nuestro país.


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