Genetic Association and Pharmacogenetics in Asthma Management
Summary
Asthma exhibits considerable heterogeneity in both its clinical presentation and treatment response. Advances in genetic association studies have shed light on the loci and pathways that contribute to disease susceptibility, exacerbation risk and variable drug efficacy. Genome-wide scans and candidate-gene investigations have identified key variants in genes such as those encoding glucocorticoid receptors, β2-adrenergic receptors and leukotriene pathways. Pharmacogenetic research complements these findings by linking genetic variation to differential response to controller medications, including inhaled corticosteroids, long-acting β2-agonists and leukotriene modifiers. Emerging work integrates multi-omic data—encompassing microRNA regulation and host-microbiome interactions—to refine patient stratification and guide precision dosing. Together, these insights promise to improve predictive biomarkers, personalise therapy and reduce exacerbation rates while minimising adverse effects.
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Genetic Association and Pharmacogenetics in Asthma Management publication trend
The graph below shows the total number of articles in genetic association and pharmacogenetics in asthma management across all publications each year (not limited to Nature Index journals).
Technical terms
Genome-wide association study (GWAS): A method to scan genomes for genetic variants associated with a particular trait or disease.
Single nucleotide polymorphism (SNP): A variation at a single position in the DNA sequence among individuals.
Inhaled corticosteroids (ICS): Anti-inflammatory medications administered by inhalation to control asthma symptoms.
Pharmacogenetics: The study of how genetic variation influences an individual’s response to drugs.
MicroRNA (miRNA): Small non-coding RNA molecules that regulate gene expression post-transcriptionally.
Cytochrome P450 enzymes (e.g. CYP3A5): A family of enzymes involved in drug metabolism and disposition.
References
- Human genetics influences microbiome composition involved in asthma exacerbations despite inhaled corticosteroid treatment. Journal of Allergy and Clinical Immunology (2023).
- Systems Genomics Reveals microRNA Regulation of ICS Response in Childhood Asthma. Cells (2023).
- Impact of CYP3A5 Polymorphisms on Pediatric Asthma Outcomes. International Journal of Molecular Sciences (2024).
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