[Gly482Ser polymorphism of the coactivator-1alpha of the activated receptor of peroxisome gamma proliferation in individuals from Maracaibo, Venezuela]. / Polimorfismo Gly482Ser del gen coactivador-1alpha del receptor activado de proliferación de los peroxisomas gamma en individuos de la ciudad de Maracaibo, estado Zulia, Venezuela. Estudio preliminar.

The aim of this study was to determine the association of the Gly482Ser polymorphism of the PGC-1 gene with insulin resistance and type 2 diabetes mellitus in subjects from the city of Maracaibo. The study was performed on 64 no-diabetic subjects (36 without insulin resistance and 28 with insulin resistance) and 13 with type 2 diabetes. A clinical and nutritional history was carried out and the evaluation of anthropometric parameters was included. Fasting serum glucose, fasting serum insulin, total cholesterol, HDL-C and LDL-C, were measured. The Gly482Ser polymorphism was detected by PCR-RFLP. It was found that the allelic frequencies for A and G were 0.36 and 0.64, respectively. The population was found in genetic equilibrium of Hardy Weinberg. The genotypes of the polymorphism Gly482Ser were not associated with insulin resistance and type 2 diabetes mellitus (OR = 1.320, p = 0.74; OR = 2, p = 0.47 respectively). Nevertheless, the diabetic subjects with the genotype AA presented values of LDL-C higher (p < 0.05) than the individuals with the genotypes GG and GA. The diabetics with the genotype GA showed significantly higher concentrations of triglycerides (>150 mg/dL) compared with the genotype GG. According to the results, the polymorphism Gly482Ser of the PGC-1 gene would be able to contribute to the cardiovascular risk in type 2 diabetics, while in the insulin resistant individuals, this polymorphism was not associated with cardiovascular risk factors.

Polimorfismo Gly482Ser del gen coactivador-1a dl receptor activado de proliferación de los peroxisomas y en individuos de la ciudad de Maracaibo estado Zulia Venezuela: estudio preliminar / Gly482Ser polymorphism of the coactivator-1a of the activated receptor of peroxisone y proliferation in individuals from Maracaibo Venezuela

El objetivo de este estudio fue determinar la asociación entre el polimorfismo Gly482Ser del gen PGC-1 con resistencia a la insulina y la diabetes mellitus tipo 2 en individuos de la ciudad de Maracaibo. Se estudiaron 64 individuos no diabético (36 sin resistencia a la insulina, 28 resistentes a la insulina) y 13 diabéticos tipo 2. Se realizó una historia clínica nutricional que incluyó la evaluación de parámetros antropométricos. Se midieron los niveles de glicemia e insulina basal, colesterol total, HDL-C y LDL-C. El polimorfismo Gly482Ser fue detectado empleando la reacción en cadena de la polimerasa y polimorfismo de restricción de fragmentos largos. Se encontró que las frecuencias alélicas para A y G resultaron 0,36 y 0,64 respectivamente. La población se encontró en equilibrio genético de Hardy Weinberg. Al asociar los genotipos del polimorfismo Gly482Ser con la resistencia a la insulina y la diabetes mellitus tipo 2, no se encontró asociación estadística significativa (OR=1,320, p=0,74; OR=2, p=0,47 respectivamente). Sin embargo, los individuos diabéticos con genotipo AA presentaron valores de LDL-C más elevados (p<0,05) que los individuos con el genotipo GG y GA. Los diabéticos con el genotipo GA mostraron concentraciones significativamente elevadas de triglicéridos (>150 mg/dL) comparados con los del genotipo GG. De acuerdo a los resultados obtenidos, el polimorfismo Gly482Ser del gen PGC-1 podría contribuir al riesgo cardiovascular en los individuos diabéticos tipo 2, mientras que en los individuos resistentes a la insulina este polimorfismo no estuvo asociado a factores de riesgo cardiovascular.

The aim of this study was to determine the association of the Gly482Ser polymorphism of the PGC-1 gene with insulin resistance and type 2 diabetes mellitus in subjects from the city of Maracaibo. The study was performed on 64 no-diabetic subjects (36 without insulin resistance and 28 with insulin resistance) and 13 with type 2 diabetes. A clinical and nutritional history was carried out and the evaluation of anthropometric parameters was included. Fasting serum glucose, fasting serum insulin, total cholesterol, HDL-C and LDL-C, were measured. The Gly482Ser polymorphism was detected by PCR-RFLP. It was found that the allelic frequencies for A and G were 0.36 and 0.64, respectively. The population was found in genetic equilibrium of Hardy Weinberg. The genotypes of the polymorphism Gly482Ser were not associated with insulin resistance and type 2 diabetes mellitus (OR=1.320, p=0.74; OR = 2, p=0.47 respectively). Nevertheless, the diabetic subjects with the genotype AA presented values of LDL-C higher (p<0.05) than the individuals with the genotypes GG and GA. The diabetics with the genotype GA showed significantly higher concentrations of triglycerides (>150 mg/dL) compared with the genotype GG. According to the results, the polymorphism Gly482Ser of the PGC-1 gene would be able to contribute to the cardiovascular risk in type 2 diabetics, while in the insulin resistant individuals, this polymorphism was not associated with cardiovascular risk factors.

Polimorfismo Pro12Ala del gen PPAR-γ 2 y síndrome metabólico: Estudio preliminar / Pro12Ala polymorphism of the PPAR-gamma2 gene and the metabolic syndrome: Preliminary study

El objetivo de este estudio fue determinar la prevalencia del polimorfismo Pro12Ala del gen PPARgamma2 en individuos no emparentados con síndrome metabólico de la ciudad de Maracaibo. Se seleccionaron 50 individuos (22 con síndrome metabólico y 28 sin síndrome metabólico) entre 22 y 58 años. A cada individuo se le realizó una evaluación clínica, nutricional y bioquímica. Para analizar la secuencia de la variante Pro12Ala del gen PPAR se empleó PCR y digestión enzimática de los fragmentos de restricción del polimorfismo (PCR-RFLP). En los individuos con síndrome metabólico el porcentaje de portadores del alelo Ala fue de 13,6%, mientras que en el grupo sin síndrome metabólico fue de 32,14%. La frecuencia para el alelo Ala del polimorfismo Pro12Ala fue de 0,12 y para el alelo Pro fue de 0,88. Los individuos con síndrome metabólico y portadores del alelo Ala presentaron niveles más bajos de triglicéridos y col-HDL más alto. Se concluye que la presencia del alelo Ala en individuos con síndrome metabólico mostró un efecto protector sobre el perfil lipídico.

The aim of this paper was to determine the prevalence of the polymorphism pro12ala in non-related individuals with metabolic syndrome from Maracaibo-Venezuela. Fifty subjects (22 with metabolic syndrome and 28 without metabolic syndrome) between 22 to 58 years of age were selected. For each individual, biochemical, nutritious, and clinical evaluations were carried out. PCR and restriction-fragment length polymorphism enzyme digestion were used to analyze the Pro12Ala sequence variant of the PPAR gene. The distribution of the Ala allele was 13.6% in the individuals with metabolic syndro- and 32.14% in the group without metabolic syndrome. The frequency distributions of the PPAR gamma sequence variants were 0.12 for Ala variant and 0.88 for Pro. The subjects with the metabolic syndrome and carriers of the Ala 12 allele had lower concentration of triglycerides and higher HDL-C. It can be concluded that the Ala12 allele in individuals with metabolic syndrome had a protective effect on the lipid profile.