A patient’s DNA may dictate how well they respond to specific medications, according to the abstract for a meta-analysis study presented at the American Society of Human Genetics 2013 in Boston.
In their quest to identify single nucleotide polymorphisms (SNPs) associated with bronchodilator responsiveness (BDR), researchers at Brigham and Women’s Hospital (BWH) genotyped more than 6,000 patients with moderate to severe COPD from four individual studies. The lung function of participants was tested by spirometry before and after using albuterol.
In total, investigators analyzed more than 6.3 million unique SNPs from the patients’ genotypes, discovering four novel variants that rarely occur in the general population.
Each patient’s BDR was determined by three measures: absolute change in the volume of air exhaled during FEV1 (BDRABS); change as percentage of predicted FEV1 (BDRPRED); and change as percentage of baseline FEV1 (BDRBASE).
Though the top SNPs thus far have been associated with each BDR outcome, the authors noted that additional analysis may reveal other SNPs with equally or greater influence on COPD patients’ response.
Specifically, the meta-analysis revealed the top SNPs for each BDR outcome; SNPs in the HS6ST3 gene were associated with BDRBASE; in the XKR4 gene were associated with BDRPRED and BDRBASE; and in the CUBN gene were associated with BDRABS and BDRPRED.
“Identifying single nucleotide polymorphisms associated with bronchodilator responsiveness may reveal genetic pathways associated with the pathogenesis of COPD and may identify novel treatment methods,” said lead author Megan Hardin, MD, BWH Channing Division of Network Medicine. She added there might be multiple genetic determinants that likely influence bronchodilator responsiveness.