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<p>Asthma is a prevalent chronic respiratory disease influenced by genetic and environmental factors. The beta-2 adrenergic receptor (ADRB2) gene, located on chromosome 5q31–q32, plays a crucial role in bronchodilation by regulating airway smooth muscle relaxation through cyclic adenosine monophosphate (cAMP)-mediated signaling. Genetic variations in ADRB2, particularly + 46A &gt; G (Arg16Gly, rs1042713) and + 79C &gt; G (Gln27Glu, rs1042714), have been associated with altered receptor function, potentially impacting bronchodilator response to β2adrenergic receptor agonists such as salbutamol. Studies suggest that individuals with specific ADRB2 polymorphisms may exhibit variable drug efficacy, influencing asthma treatment outcomes. This study aims to investigate the association between ADRB2 polymorphism (Arg16Gly, rs1042713) and bronchodilator response, assessing their role in inter-individual variability in salbutamol efficacy. Allele-specific PCR (AS-PCR) employed to genotype these polymorphisms help in distinguishing homozygous and heterozygous variants. The findings could contribute to personalized asthma management, optimizing pharmacogenetic-based treatment strategies for improved therapeutic outcomes in a cost effective setting. Understanding the genetic basis of β2-AR variability may facilitate tailored asthma interventions, reducing adverse drug reactions and enhancing patient care.</p>

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Development and Validation of Real-Time Allele-Specific PCR-Based Genotyping of the rs1042713 Variant in the ADRB2 Gene and Its Correlation with Salbutamol Response

  • 期刊论文

  • 发表日期：

    2025年7月29日

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  • Dilla Jose,
  • N. S. Vincent

摘要

Asthma is a prevalent chronic respiratory disease influenced by genetic and environmental factors. The beta-2 adrenergic receptor (ADRB2) gene, located on chromosome 5q31–q32, plays a crucial role in bronchodilation by regulating airway smooth muscle relaxation through cyclic adenosine monophosphate (cAMP)-mediated signaling. Genetic variations in ADRB2, particularly + 46A > G (Arg16Gly, rs1042713) and + 79C > G (Gln27Glu, rs1042714), have been associated with altered receptor function, potentially impacting bronchodilator response to β2adrenergic receptor agonists such as salbutamol. Studies suggest that individuals with specific ADRB2 polymorphisms may exhibit variable drug efficacy, influencing asthma treatment outcomes. This study aims to investigate the association between ADRB2 polymorphism (Arg16Gly, rs1042713) and bronchodilator response, assessing their role in inter-individual variability in salbutamol efficacy. Allele-specific PCR (AS-PCR) employed to genotype these polymorphisms help in distinguishing homozygous and heterozygous variants. The findings could contribute to personalized asthma management, optimizing pharmacogenetic-based treatment strategies for improved therapeutic outcomes in a cost effective setting. Understanding the genetic basis of β2-AR variability may facilitate tailored asthma interventions, reducing adverse drug reactions and enhancing patient care.