Distribución de las frecuencias alélicas y genotípicas del polimorfismo 2548G>A del gen de la leptina en la ciudad de Cuenca-Ecuador

Abstract

Due to the lack of genetic research that evaluates the population distribution at a national level and knowing that several studies have investigated the association of this polymorphism with chronic diseases; the objective of this study was to know the allelic and genotypic distribution of the 2548G> A polymorphism of the LEP gene in people from the city of Cuenca. Findings were a result of a cross-sectional descriptive study – of the observational kind - that was approved by the Ethics Committee for Human Research of the San Francisco University of Quito; in which 106 individuals voluntarily participated and visited the Laboratory of Biological and Genetic Analysis of the Faculty of Chemical Sciences, with prior informed consent.Data collection was carried out through direct interviews with survey applications in order to define the sociodemographic data and anthropometric characteristics of the population; 5mL of total blood was drawn from each participant which was used for the extraction of DNA and the [actual] detection of the 2548G> A polymorphism of the LEP gene was conducted using the real-time polymerase chain reaction (REAL-TIME PCR) technique. Although this investigation was descriptive, associations could be made to different covariates, in essence, due to its transcendence with nutritional state. Allele frequencies were: 63% for the mutated allele (A) and 37% for the wild type allele (G); and the genotypes of 38% G / G, 51% G / A and 11% A / A. The study population remained in Hardy Weinberg's equilibrium. It was found that there was a statistically significant associations (p = 0.028) between the SNP and the classification of nutritional state under a dominant model. For the statistical analysis we worked with a confidence interval of 95% (p <0.05). It was determined that this study has a similar distribution to other populations, and people with the rare allele were protected from being overweight and / or obese by 60% compared to those who presented the wild allele (OR = 0.40, 0.18 -0.93, IC: 95%).