• Colomb Medica · Sep 2019

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

    • Evelyn Mendoza-Torres, Nicole Samuel Pereira Sanandrés, José Luis Villarreal Camacho, Xilene Mendoza Sánchez, César De La Espriella Pérez, Lourdes Luz Varela Prieto, and Daniel Antonio Villanueva Torregrosa.
    • Universidad Libre, Grupo de Investigación Avanzada en Biomedicina, Barranquilla, Colombia.
    • Colomb Medica. 2019 Sep 30; 50 (3): 153-162.

    IntroductionSeveral 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.ObjectiveTo evaluate the distribution of single nucleotide polymorphism rs693 and its association with lipid profile and body mass index in a sample of Colombian Caribbeans.Methods108 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.ResultsThe 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).ConclusionThere is no significant association between single nucleotide polymorphism rs693 and body mass index nor lipid profile, in a sample of Colombian Caribbeans.Copyright © 2019 Universidad del Valle.

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