Estudio de polimorfismos del gen ABCA1 en la población lojana y su asociación a rasgos metabólicos

Abstract

The metabolic syndrome is one of the main cardiovascular risk factors with a high degree of morbidity and mortality in humans, which is why it is considered a serious global health problem. This would be due to the combination of genetic and socio-environmental factors related to changes in lifestyle; from the genetic point of view, the metabolic syndrome is a complex and polygenic pathology. Polymorphisms of the ABCA1 gene have been related to variations in the concentration of HDL, which could endanger the development of metabolic diseases. This work aims to determine the frequency of the polymorphisms R219K and R230C of the ABCA1 gene in the local population, as well as to evaluate the association with the metabolic syndrome. The frequency of variants R219K and R230C were 0.35 0.13, respectively, and no relationship was found with metabolic syndrome in the population analyzed, however in individuals with the R219K A/A genotype the frequency of obesity was significantly lower, but this association does not persist when adjusted for factors such as sex and age.