Variantes genéticas en el gen NR3C1 asociado a la falta de respuesta a glucocorticoides en niños asmáticos en Cuenca-Ecuador

Abstract

The use of glucocorticoids is the first-line treatment for asthma, but it is estimated that between 5 and 15% of children present a lack of response to these drugs. This is associated with genetic variations, among which SNPs present in the NR3C1 gene stand out. It is estimated that there are around 2571 SNPs involved in the pathogenesis of this disease. In this study, our objective was to identify the SNPs BclI (rs10052957) and TthIIIl (rs41423247) in the NR3C1 gene, their allelic and genotypic frequencies and to determine whether or not they are associated with the control and occurrence of exacerbations in asthmatic children aged 5-17 years in the city of Cuenca-Ecuador. For this purpose, 150 asthmatic children were included in the study and sociodemographic variables, level of asthma control, nutritional status and the occurrence of exacerbations were recorded during six months of patient follow-up. Genotypes were studied by real-time PCR method using Taqman probes. Our studies revealed that the TthlllI SNP variants AA, AG and GG have a frequency of 0.68%, 26.03% and 73.29% respectively. While for BclI SNP the frequency of GG, GC and CC genotypes was 59.59%, 35.62% and 4.79%. Likewise, the association analysis of SNPs and asthma control revealed that in the additive model there is a significant association between the BclI C/C genotype (p<0.03) and controlled asthma.