Distribution of polymorphism rs693 of ApoB gene in a sample of Colombian Caribbeans

• Published in: Colombia médica (Cali, Colombia) Colombia), 2022-07, Vol.50 (3)
• Main Authors: Mendoza-Torres, Evelyn, Sanandrés, Nicole Samuel Pereira, Camacho, José Luis Villarreal, Sánchez, Xilene Mendoza, Pérez, César De La Espriella, Prieto, Lourdes Luz Varela, Torregosa, Daniel Antonio Villanueva
• Format: Article
• Language: English
• Subjects: Apolipoprotein B; Apolipoproteína B; body mass index; genotipificación; genotyping; lipid profile; perfil lipídico; polimorfismo; polymorphism; índice de masa corporal
• ISSN: 0120-8322

Introduction:Several studies have reported that the single nucleotide polymorphism rs693 of Apo lipoprotein B gene is associated with high levels of plasma lipids and high body mass index, which are risk factors for cardiovascular diseases. The distribution of this single nucleotide polymorphism and its association with the phenotype depend on the genetic background of each population. Objective:To evaluate the distribution of single nucleotide polymorphism rs693 and its association with lipid profile and body mass index in a sample of Colombian Caribbeans. Methods:108 non-related adult subjects of both gender were included in this study. Body mass index and lipid profile that included total cholesterol, triglycerides, Low Density Lipoprotein and High Density Lipoprotein were determined. The single nucleotide polymorphism rs693 was determined by Polymerase Chain Reaction/Restriction Fragment Length Polymorphism from genomic DNA followed by digestion with the restriction enzyme XbaI. The chi-square test was used to analyze the genotype distribution of rs693 and the genotype-phenotype association was evaluated through different inheritance model. Results:The genotype frequencies for single nucleotide polymorphism rs693 were CC (45.0%), TT (16.5%) and CT (38.5%). The allele frequencies were C (64.0%) and T (36.0%). The single nucleotide polymorphism was in Hardy-Weinberg equilibrium in the studied sample. No association of the single nucleotide polymorphism rs693 with lipid profile nor the body mass index was found (p >0.05). Conclusion:There is no significant association between single nucleotide polymorphism rs693 and body mass index nor lipid profile, in a sample of Colombian Caribbeans. Introducción:Varios estudios han informado que el polimorfismo de un solo nucleótido rs693 del gen de la apolipoproteína B se asocia con altos niveles de lípidos plasmáticos e índice de masa corporal, los cuales son factores de riesgo para enfermedades cardiovasculares. La distribución de este polimorfismo y su asociación con el fenotipo dependen del antecedente genético de cada población. La población caribeña colombiana es producto de la mezcla de tres grupos étnicos principales: africano, amerindio y caucásico. Objetivo: Evaluar la distribución del polimorfismo rs693 y su asociación con el perfil lipídico y el índice de masa corporal en una muestra de sujetos caribeños colombianos. Métodos:Fueron incluidos en este estudio 108 sujetos adultos de ambos sexos y no relacion