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Updated: May 24, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Pharmacogenetics of asthma controller treatment
E B Mougey1, C Chen, K G Tantisira
1ALA-Asthma Clinical Research Center, Jacksonville, FL, USA.
This study identified novel genetic variants (SNPs) associated with how well asthma patients respond to common controllers like fluticasone and montelukast, paving the way for personalized asthma treatment.
Area of Science:
- Pharmacogenomics
- Asthma Therapeutics
- Genetic Association Studies
Background:
- Interpatient variability in asthma controller response is significant.
- This variability is linked to pharmacogenomic differences.
- Identifying genetic markers can help personalize asthma management.
Purpose of the Study:
- To identify novel single nucleotide polymorphisms (SNPs) associated with patient response to fluticasone, fluticasone + salmeterol, and montelukast.
- To investigate candidate genes in the β2-adrenergic receptor, corticosteroid, and leukotriene pathways.
- To explore the potential of genetic variants in tailoring asthma treatment strategies.
Main Methods:
- Genotyped 169 SNPs in 26 candidate genes in 189 Caucasian asthma patients.
- Assessed treatment response using Asthma Control Questionnaire (ACQ) scores and FEV1 changes over 16 weeks.
- Analyzed SNP-outcome associations using general linear models with corrections for multiple comparisons.
Main Results:
- Identified 16 significant SNPs in seven genes associated with treatment response.
- Found associations between CHRM2 SNPs and ACQ slope for fluticasone/salmeterol.
- Discovered CRHR1 and COL2A1 SNPs linked to fluticasone response, and CHRM2 SNPs associated with montelukast response, showing potential opposing effects.
Conclusions:
- Several novel SNPs significantly associate with responses to common asthma controllers.
- These findings support further pharmacogenomic research in asthma.
- Genetic variants hold promise for personalizing asthma pharmacotherapy.
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