Asociación de los polimorfismos T352C y A16974C con la lepra lepromatosa en pacientes cubanos

Introduction: Leprosy is an infectious disease caused by Mycobacterium leprae. Dermatoglyphic patterns of Cuban patients with lepromatose leprosy showed evidential signs of the existence of genetic predisposition to the development of this disease, which suggests a search for the association with molecular polymorphisms of higher degree of accuracy. Among them, some of the most studied are the T352C vitamin D receptor gene and the A16974Cof the IL12p40 gene, which relative usefulness depends on the population. Objective:To determine whether there is an association between the T352Cand A16974C polymorphisms with lepromatose leprosy in Cuban patients.Material and methods:An observational analytical case-control type genetic association study was conducted where patients with lepromatose leprosy and controls were studied. Genotypes related to T352Cand A16974C polymorphisms were identified in each group. Pearson´s chi square test was used to determine whether the controls were in Hardy-Weinberg equilibrium, and also whether there was a relation between polymorphisms and the presence of diseases. Results: There were 32 patients under study for T352C polymorphism, and 42 for A16974C. The controls were 64 and 44, respectively; and these were in Hardy-Weinberg equilibrium. No association between T352Cand A16974C polymorphisms with lepromatose leprosy was detected. Conclusions: T352Cand A16974C polymorphisms are not useful as a predisposing risk factor in the group of Cuban patients with lepromatose leprosy studied.Keywords: Leprosy, genetic polymorphism, genetic predisposition to disease, Cuba, Hardy-Weinberg equilibrium, alleles. Introducción: La Lepra es una enfermedad infecciosa causada por el Mycobacterium leprae. Los patrones dermatoglíficos de pacientes cubanos con lepra lepromatosa mostraron indicios probatorios de que existe predisposición genética para el desarrollo de esta enfermedad, que sugiere la búsqueda de la asociación con polimorfismos moleculares, de mayor precisión. Entre estos, unos de los más estudiados son el T352C del gen del receptor de la vitamina D y el A16974Cdel gen IL12p40, cuya utilidad relativa depende de la población.Objetivo: Determinar si existe asociación entre la presencia de los polimorfismos T352C y A16974C con la lepra lepromatosa en pacientes cubanos.Material y Métodos: Se realizó un estudio observacional, analítico, de tipo caso-control de asociación genética donde se estudiaron pacientes con lepra lepromatosa y controle