关键词: Bronchial asthma genetic variants genomics single nucleotide polymorphisms

来  源:   DOI:10.21037/atm-22-291   PDF(Pubmed)

Abstract:
UNASSIGNED: Bronchial asthma, a common respiratory disease in children and young adults, is characterized by hyperresponsiveness and reversible narrowing of the airways which manifest clinically as shortness of breath, cough, and/or wheezing. Although its pathogenic mechanism remains unknown, it\'s known that asthma patients have substantial interindividual variability in drug responsiveness, among which genetic factors play key roles. For improving the understanding of the biological mechanism of asthma and useful recognition of diagnostic and therapeutic targets, and the main purpose of this article is to optimize drug selection by analyzing genes associated with different drug responsiveness in asthmatic patients through the use of genomic techniques.
UNASSIGNED: β2-agonists, inhaled corticosteroids (ICS), and leukotriene modulators are the most commonly used to treat asthma, and major genetic variations associated with differential response to these three drugs were identified via candidate gene association analysis, genome-wide association study (GWAS), and RNA sequencing.
UNASSIGNED: Genomics focuses on the effects of genetic variations in a group of genes. Most current studies have focused on the effect of single gene polymorphisms on drug efficacy, but the pharmacogenomics of asthma is inherently complex, with each factor having a small effect on drug responsiveness, and no single locus has yet been able to predict the variability in drug responsiveness.
UNASSIGNED: According to epidemiological researches, a worldwide increase in the prevalence of bronchial asthma over the past four decades was shown. Genomic approaches can be used to screen for genetic variants associated with drug response. Stratifying patients prior to treatment helps to optimize drug selection, maximize the effectiveness of individual treatment, and improve clinical outcomes.
摘要:
未经批准:支气管哮喘,儿童和年轻人常见的呼吸道疾病,其特征是高反应性和可逆的气道狭窄,在临床上表现为呼吸急促,咳嗽,和/或喘息。虽然其致病机制尚不清楚,众所周知,哮喘患者在药物反应性方面有很大的个体差异,其中遗传因素起着关键作用。为提高对哮喘生物学机制的认识和对诊断和治疗靶点的有效识别,本文的主要目的是通过使用基因组技术分析与哮喘患者不同药物反应性相关的基因来优化药物选择。
未经批准:β2-激动剂,吸入性皮质类固醇(ICS),白三烯调节剂最常用于治疗哮喘,通过候选基因关联分析确定了与对这三种药物的差异反应相关的主要遗传变异,全基因组关联研究(GWAS),和RNA测序。
UNASSIGNED:基因组学专注于一组基因中遗传变异的影响。目前大多数研究集中在单基因多态性对药物疗效的影响,但是哮喘的药物基因组学本质上是复杂的,每个因素对药物反应性的影响都很小,并且还没有单个基因座能够预测药物反应性的变异性。
未经授权:根据流行病学研究,研究显示,在过去40年中,支气管哮喘的患病率在全球范围内有所增加.基因组方法可用于筛选与药物反应相关的遗传变体。在治疗前对患者进行分层有助于优化药物选择,最大限度地提高个体治疗的有效性,改善临床结果。
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