ADRB2 and ADCY9 Sequence Variations in Brazilian Asthmatic Patients.
Viviane da C SilvaRaquel L de F TeixeiraRebecca E E N O do LivramentoMárcia Q P LopesThyago L CalvoJosé E FilhoMárcia B V LuduviceLilian de C RodriguesMarcello BossoisPatricia F SchlinkertAnderson S NevesPhilip N SuffysJosé Roberto Lapa E SilvaAdalberto Rezende SantosPublished in: Current issues in molecular biology (2024)
Asthma is a chronic inflammatory respiratory condition, characterized by variable airflow limitation, leading to clinical symptoms such as dyspnea and chest tightness. These symptoms result from an underlying inflammatory process. The β2 agonists are bronchodilators prescribed for the relief of the disease. Nevertheless, their efficacy exhibits substantial interindividual variability. Currently, there is widespread recognition of the association between specific genetic variants, predominantly located within the ADRB2 and ADCY9 genes and their efficacy. This association, usually represented by the presence of non-synonymous single nucleotide polymorphisms (SNPs) have a strong impact in the protein functionality. The prevalence of these mutations varies based on the ethnic composition of the population and thus understanding the profiles of variability in different populations would contribute significantly to standardizing the use of these medications. In this study, we conducted a sequence-based genotyping of the relevant SNPs within the ADRB2 and ADCY9 genes in patients undergoing treatment with bronchodilators and/or corticosteroids at two healthcare facilities in the state of Rio de Janeiro, Brazil. We investigated the presence of c.46A>G, c.79C>G, c.252G>A, and c.491C>T SNPs within the ADRB2 , and c.1320018 A>G within the ADCY9 . Our results were in line with existing literature data with both for individuals in Brazil and Latin American.
Keyphrases
- genome wide
- healthcare
- dna methylation
- patients undergoing
- end stage renal disease
- ejection fraction
- oxidative stress
- newly diagnosed
- lung function
- chronic kidney disease
- systematic review
- risk factors
- peritoneal dialysis
- amino acid
- prognostic factors
- transcription factor
- cystic fibrosis
- big data
- electronic health record
- air pollution
- physical activity
- deep learning
- health information
- patient reported
- smoking cessation
- atomic force microscopy
- affordable care act
- artificial intelligence
- single cell