Ausencia de asociación entre la variante S447X del gen de la lipoproteína lipasa y lípidos plasmáticos: Estudio preliminar

El aumento en los valores de los lipidos sanguineos, constituye un importante factor de riesgo cardiovascular. La lipoproteina lipasa (LPL) juega un papel importante en el metabolismo lipoproteico. Factores metabolicos y geneticos pueden influir en la funcion de la LPL. La variante S447X de la LPL se ha asociado con cambios en el perfil lipidico en diferentes poblaciones. El objetivo de esta investigacion fue analizar la relacion entre la variante S447X del gen de la LPL y lipidos plasmaticos de individuos del Estado Zulia, Venezuela. Se estudiaron 75 individuos entre 20 y 60 anos, 34 hombres y 41 mujeres. A cada individuo se le realizo una historia clinica con antecedentes familiares, caracteristicas antropometricas, estado nutricional y pruebas bioquimicas. Para el estudio molecular, se extrajo el ADN genomico, se utilizo la reaccion en cadena de la polimerasa (RCP) seguida de digestion enzimatica para polimorfismos de longitud de fragmentos de restriccion utilizando la enzima Hinf I. Los individuos estudiados presentaron niveles normales de glicemia, trigliceridos, colesterol total, lipoproteinas de baja densidad (C-LDL) y niveles ligeramente disminuidos de las lipoproteinas de alta densidad (C-HDL). La distribucion genotipica dela variante S447X del gen LPL fue 90,6% para el genotipo homocigoto 447SS y 9,4% para el genotipo heterocigoto 447SX; no se identifico el genotipo 447XX. La poblacion se ajusto al equilibrio genetico de Hardy Weinberg. No se encontro relacion entre el polimorfismo S447X del gen LPL y los valores lipidicos plasmaticos.(AU) The increase in lipid plasma values is an important cardiovascular risk factor. Lipoprotein lipase (LPL) plays an important role in the lipoprotein metabolism and metabolic and genetic factors may influence its levels and functions. The S447X variant of the lipoprotein lipase gene is associated with changes in plasma lipids in different populations. The objective of this research was to analyze the S447X variant of the LPL gene and its relation with plasma lipids of individuals in Zulia state, Venezuela. With this purpose, we studied 75 individuals (34 men and 41 women) between 20 and 60 years of age. Each subject had a medical history which included family history, anthropometric characteristics, nutritional status evaluation and biochemical tests. Genomic DNA was extracted for the molecular study and the polymerase chain reaction was used, followed by enzyme digestion, for restriction fragments length polymorphisms using the Hinf I enzyme. The individuals studied had normal levels of blood glucose, triglycerides, total cholesterol and low density lipoproteins (LDL-C) and slightly decreased levels of high density lipoproteins (HDL-C). The genotypic distribution of the LPL gene S447X variant in the studied population was 90.6% for the homozygous genotype SS447 and 9.4% for the heterozygote SX447. The genotype 447XX was not identified. The population was found in Hardy Weinberg genetic equilibrium. No association between the S447X polymorphism of lipoprotein lipase gene and plasma lipids was observed.(AU)