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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Pharmacogenetic tests in asthma therapy.

I-Wen Yu¹, Bonny Lewis Bukaveckas

¹Department of Pharmacy, School of Pharmacy, Virginia Commonwealth University, 410N 12th Street, P.O. Box 980533, Richmond, VA 23298-0533, USA.

Clinics in Laboratory Medicine

|December 9, 2008

Summary

Certain asthma patients with a specific gene variant (ADRB2 Arg16) may not benefit from long-term beta2-agonist use. This genetic factor can lead to reduced lung function and more asthma exacerbations in Caucasian individuals.

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Area of Science:

Pharmacogenetics
Respiratory Medicine
Genetics

Background:

Beta2-agonist medications like albuterol and salmeterol are common asthma treatments.
A subset of patients exhibit a poor response to these medications, risking decreased lung function and mortality.
A common single nucleotide polymorphism (SNP) in the beta2-adrenergic receptor gene (ADRB2) leads to an Arg16Gly substitution.

Purpose of the Study:

To investigate the pharmacogenetic relationship between the ADRB2 Arg16Gly polymorphism and long-term response to beta2-agonists in asthma patients.
To examine ethnic variations in this pharmacogenetic association, as it is less studied in non-Caucasian groups.

Main Methods:

Analysis of the ADRB2 gene for the Arg16Gly single nucleotide polymorphism (SNP).
Correlation of the ADRB2 genotype with clinical outcomes, including lung function and asthma exacerbations.
Evaluation of long-term effects of beta2-agonist therapy in relation to the identified SNP.

Main Results:

The ADRB2 Arg16Gly SNP is associated with increased responsiveness at therapy initiation.
Long-term use of beta2-agonists (with or without corticosteroids) in Caucasians with this SNP correlates with decreased lung function and increased asthma exacerbations.
The pharmacogenetic relationship is less understood in non-Caucasian populations.

Conclusions:

Regular use of albuterol or salmeterol may be inappropriate for Caucasian asthma patients with the homozygous ADRB2 Arg16 genotype.
Further research is needed to understand this pharmacogenetic interaction in diverse ethnic groups.