V.P. de Sousa, B.G. Marcarini, B. dos A. Bortolini, F.N. Barcellos Filho, F.S. Serpa, F. de Paula, J.G. Mill and F.I.V. Errera
Published September 23, 2024
Genet. Mol. Res. 23 (4): gmr2311
DOIhttp://dx.doi.org/10.4238/gmr2311
About the Authors
V.P. de Sousa, B.G. Marcarini, B. dos A. Bortolini, F.N. Barcellos Filho, F.S. Serpa, F. de Paula, J.G. Mill and F.I.V. Errera
Corresponding author:
Flávia Imbroisi Valle Errera
E-mail: flavia.valle@ufes.br
ABSTRACT
Asthma is a complex respiratory disease and many genes and genetic variants have been investigated for asthma susceptibility, pathogenesis, severity, and response to therapy. We aimed to evaluate whether single nucleotide polymorphism (SNP) rs1042714 of the ADRB2 gene is associated with clinical variables, laboratory tests, comorbidities, and pulmonary function parameters, including bronchodilator response (BDR) to salbutamol, in female asthma patients from a referral clinic. We analyzed anthropometric data, laboratory test results, clinical and severity data, spirometry results, and allergic skin tests. DNA was analyzed with allele-specific polymerase chain reaction. We found a significant association between the genotypes of the SNP rs1042714 and the pulmonary function parameters ΔFEV1 (p = 0.023), FVC (p = 0.012), % reversibility (p = 0.012), and BDR (p = 0.040). Among patients with the CC genotype, we observed lower ΔFEV1 (4.9; ±4.8), ΔFVC (2.6; ±4.8), % reversibility (8.3; ±9.2), and a higher percentage of negative BDR response (N = 84; 38.7%). These association were also identified in the dominant model (ΔFEV1: p = 0.023; ΔFVC: p = 0.014; % reversibility: p = 0.018) and in the recessive model (ΔFVC: p = 0.033; % reversibility: p = 0.025; BDR: p = 0.031). Besides, we found an association between the genotypes and the response to cockroach allergens (p = 0.017) in a codominant model. Our study supports the hypothesis that SNP rs1042714 of the ADRB2 gene is associated with lung function and BDR to salbutamol in women with asthma.
Key words: Asthma; Beta-2-adrenergic receptor; Genetic association; Precision medicine; Therapy response; Short-acting β2-agonists.