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.

IF 2.5 4区生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Molecular Biotechnology Pub Date : 2025-07-29 DOI:10.1007/s12033-025-01483-9

Dilla Jose, N S Vincent

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引用次数: 0

Abstract

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.

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基于实时等位基因特异性pcr的ADRB2基因rs1042713变异基因分型的建立与验证及其与沙丁胺醇反应的相关性

哮喘是一种常见的慢性呼吸道疾病，受遗传和环境因素的影响。β -2肾上腺素能受体（ADRB2）基因位于染色体5q31-q32上，通过环磷酸腺苷（cAMP）介导的信号传导调节气道平滑肌舒张，在支气管舒张中起关键作用。ADRB2的遗传变异，特别是+ 46A > G （Arg16Gly, rs1042713）和+ 79C > G （Gln27Glu, rs1042714）与受体功能改变有关，可能影响支气管扩张剂对β2肾上腺素能受体激动剂（如沙丁胺醇）的反应。研究表明，具有特定ADRB2多态性的个体可能表现出不同的药物疗效，影响哮喘治疗结果。本研究旨在探讨ADRB2多态性（Arg16Gly, rs1042713）与支气管扩张剂反应之间的关系，评估其在沙丁胺醇疗效的个体差异中的作用。利用等位基因特异性PCR （AS-PCR）对这些多态性进行基因分型有助于区分纯合子和杂合子变异。该研究结果有助于个性化哮喘管理，优化基于药物遗传学的治疗策略，以提高成本效益的治疗效果。了解β2-AR变异性的遗传基础可能有助于量身定制哮喘干预措施，减少药物不良反应并加强患者护理。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Biotechnology 医学-生化与分子生物学

CiteScore

4.10

自引率

3.80%

发文量

165

审稿时长

6 months

期刊介绍： Molecular Biotechnology publishes original research papers on the application of molecular biology to both basic and applied research in the field of biotechnology. Particular areas of interest include the following: stability and expression of cloned gene products, cell transformation, gene cloning systems and the production of recombinant proteins, protein purification and analysis, transgenic species, developmental biology, mutation analysis, the applications of DNA fingerprinting, RNA interference, and PCR technology, microarray technology, proteomics, mass spectrometry, bioinformatics, plant molecular biology, microbial genetics, gene probes and the diagnosis of disease, pharmaceutical and health care products, therapeutic agents, vaccines, gene targeting, gene therapy, stem cell technology and tissue engineering, antisense technology, protein engineering and enzyme technology, monoclonal antibodies, glycobiology and glycomics, and agricultural biotechnology.