[Lack of association between the S447X variant of the lipoprotein lipase gene and plasma lipids. A preliminary study]. / Ausencia de asociación entre la variante S447X del gen de la lipoproteina lipasa y lipidos plasmáticos. Estudio preliminar.

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.

Ausencia de asociación entre la variante S447X del gen de la lipoproteína lipasa y lípidos plasmáticos: Estudio preliminar / Lack of association between the S447X variant of the lipoprotein lipase gene and plasma lipids: A preliminary study

El aumento en los valores de los lípidos sanguíneos, constituye un importante factor de riesgo cardiovascular. La lipoproteína lipasa (LPL) juega un papel importante en el metabolismo lipoproteico. Factores metabólicos y genéticos pueden influir en la función de la LPL. La variante S447X de la LPL se ha asociado con cambios en el perfil lipídico en diferentes poblaciones. El objetivo de esta investigación fue analizar la relación entre la variante S447X del gen de la LPL y lípidos plasmáticos de individuos del Estado Zulia, Venezuela. Se estudiaron 75 individuos entre 20 y 60 años, 34 hombres y 41 mujeres. A cada individuo se le realizó una historia clínica con antecedentes familiares, características antropométricas, estado nutricional y pruebas bioquímicas. Para el estudio molecular, se extrajo el ADN genómico, se utilizó la reacción en cadena de la polimerasa (RCP) seguida de digestión enzimática para polimorfismos de longitud de fragmentos de restricción utilizando la enzima Hinf I. Los individuos estudiados presentaron niveles normales de glicemia, triglicéridos, colesterol total, lipoproteínas de baja densidad (C-LDL) y niveles ligeramente disminuidos de las lipoproteínas de alta densidad (C-HDL). La distribución genotípica dela variante S447X del gen LPL fue 90,6% para el genotipo homocigoto 447SS y 9,4% para el genotipo heterocigoto 447SX; no se identificó el genotipo 447XX. La población se ajustó al equilibrio genético de Hardy Weinberg. No se encontró relación entre el polimorfismo S447X del gen LPL y los valores lipídicos plasmáticos.

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.

[Association of the vitamin D receptor gene BBAAtt haplotype with osteoporosis in post-menopausic women]. / Asociación del haplotipo BBAAtt del gen del receptor de la vitamina D con la osteoporosis en mujeres posmenopáusicas.

Osteoporosis (OP) is an important public issue affecting more than 150 millions all over the world, mainly post-menopausic women. Epidemiological studies have shown that the genetic factors could be involved in 80-90% of the bone mineral density variabiblity and therefore, related to the risk of OP manifestations. The vitamin D receptor (VRD) gene has been extensively studied, but its relationship with OP has been controversial. The aim of this investigation was to study the association of Bsm I, Apa I and Taq I VDR gene polymorphism with OP in 147 post-menopausic women; 71 with OP and 76 without the disease (control). The molecular gene analysis was performed using the polymerase chain reaction (PCR). The genotypes BB, AA, and tt were found in 56.33, 50.70 and 25.35% and in 21.05, 28.95 and 10.53% of OP patients and controls respectively. The haplotype BBAAtt was observed in 23.94% of OP patients and 5.26% of the controls. This haplotype was a risk factor for OP, since a odds ratio (OR) of 5.66 was found, while, haplotype BbaaTT was a protection factor (OR: 0.10). These findings support the association of the vitamin D receptor gene BBAAtt haplotype with OP.

Asociación del haplotipo BBAAtt del gen del receptor de la vitamina D con la osteoporosis en mujeres posmenopáusicas / Association of the vitamin D receptor gene BBAAtt haplotype with osteoporosis in post-menopausic women

La Osteoporosis (OP) es un problema de salud pública, que afecta a más de 150 millones de personas en el mundo, mayoritariamente mujeres posmenopáusicas. Estudios epidemiológicos demuestran que los factores genéticos podrían representar el 80-90 por ciento de la variabilidad en la densidad mineral ósea y en consecuencia relacionarse con el riesgo a sufrir OP. El gen del receptor de la vitamina D (RVD) se ha estudiado ampliamente en este campo y su relación con la osteoporosis ha sido controversial. El objetivo de esta investigación fue estudiar la asociación de los polimorfismos Bsm I, Apa I y Taq I del gen del RVD con la OP en 147 mujeres posmenopáusicas, 71 con OP y 76 sin la enfermedad (control). El análisis molecular se realizó utilizando la reacción en cadena de la polimerasa (RCP). Los genotipos BB, AA y tt se encontraron en 56,33, 50,70 y 25,35 por ciento y en 21,05, 28,95 y 10,53 por ciento, en el grupo con OP y control, respectivamente. El haplotipo BBAAtt se observó en un 23,94 por ciento en el grupo con OP y en 5,26 por ciento en el grupo control. Este haplotipo resultó ser factor de riesgo para la OP con Razón de disparidad (RD) de 5,66, mientras que el haplotipo BbaaTT, factor de protección (RD: 0,10). Estos hallazgos apoyan la asociación del haplotipo BBAAtt del gen del receptor de la vitamina D con la OP.