Association of MTOR gene polymorphisms with asthma and poor response to treatment in a Latin American population

Asthma is a chronic inflammatory airway disease influenced by both genetic and environmental factors. This study investigated the association between polymorphisms in the MTOR gene and asthma in a Latin American population, comprising 1178 patients from the ProAR (Program for the Control of Asthma in Bahia) in Salvador, Brazil. Data collection included questionnaires, pulmonary function tests, allergy skin tests, genotypic analyses, and cytokine level assessments. Statistical analyses were performed using logistic regression and ANOVA, with a significance level of 5%. The results revealed significant associations between MTOR polymorphisms and asthma susceptibility. Specifically, rs1057079 (OR: 1.22; 95% CI: 1.01-1.48; p = 0.04) and rs7525957 (OR: 1.45; 95% CI: 1.05-2.01; p = 0.02) were linked to an increased risk of asthma. Regarding asthma control, the rs7525957 polymorphism was particularly relevant, as individuals with the AA genotype had twice the likelihood of experiencing uncontrolled asthma (OR: 2.05; 95% CI: 1.23-3.42; p = 0.006). Additionally, rs12122483 and rs17036350 were associated with elevated levels of eotaxin and cytokines such as IL-17 and IL-13. Reduced MTOR gene expression was observed in AA genotypes carriers for rs7525957 and rs1057079. These findings suggest that MTOR gene polymorphisms contribute to an increased risk of asthma and poor disease control, potentially through immune regulation and cytokine expression, despite standard treatment.