Lung function and bronchodilator response are associated with the SNP rs1042714 in ADRB2 gene

Authors

  • Valdemir Pereira de Sousa Núcleo de Genética Humana e Molecular, Programa de Pós-graduação em Biotecnologia, Universidade Federal do Espírito Santo (UFES), Vitória, ES, Brasil. Author
  • Bruno Guimarães Marcarini Programa de Residência em Genética Médica, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, SP, Brasil Author https://orcid.org/0000-0003-0956-2280
  • Bruna dos Anjos Bortolini Programa de Residência Médica em Dermatologia, Hospital Universitário Cassiano Antônio Moraes (HUCAM), Universidade Federal do Espírito Santo (UFES), Vitória, ES, Brasil  Author https://orcid.org/0000-0001-8564-3061
  • Fabiano Novaes Barcellos Filho Programa de Doutorado em Saúde Pública, Universidade de São Paulo (USP), São Paulo, SP, Brasil Author https://orcid.org/0000-0002-1491-2700
  • Faradiba Sarquis Serpa Hospital Santa Casa de Misericórdia de Vitória (HSCMV), Escola Superior de Ciências da Santa Casa de Misericórdia de Vitória (EMESCAM), Vitória, ES, Brasil  Author https://orcid.org/0000-0002-5703-4370
  • José Geraldo Mill Departamento de Ciências Fisiológicas, Universidade Federal do Espírito Santo (UFES), Vitória, ES, Brasil  Author https://orcid.org/0000-0002-0987-368X
  • Flávia Imbroisi Valle Errera Núcleo de Genética Humana e Molecular, Programa de Pós-graduação em Biotecnologia, Universidade Federal do Espírito Santo (UFES), Vitória, ES, Brasil  Author https://orcid.org/0000-0002-8069-6372

DOI:

https://doi.org/10.4238/gmr2311

Keywords:

Asthma;, Beta-2-adrenergic receptor;, Genetic association;, Precision medicine; , Therapy response; , Short-acting β2-agonists.

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.

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Published

2024-12-19

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Section

Research Article

How to Cite

Lung function and bronchodilator response are associated with the SNP rs1042714 in ADRB2 gene. (2024). Genetics and Molecular Research, 23(4), 1-16. https://doi.org/10.4238/gmr2311

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