Several novel gene variants may help explain the response of patients with chronic obstructive pulmonary disease (COPD) to inhaled bronchodilators, according to a meta-analysis reported on Friday, October 25, at the American Society of Human Genetics (ASHG) 2013 meeting in Boston. The meta-analysis used statistical methods to combine results from four individual studies with a total of 6,500 Caucasian patients with moderate to severe COPD. Over 6.3 million unique single nucleotide polymorphisms (SNPs) were identified in the genotypes of the patients with COPD, which is a progressive breathing disorder that limits airflow in the lungs. The genotypes of over 800 African Americans with COPD were also analyzed. “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 Megan Hardin, M.D., Instructor of Medicine at Harvard Medical School and researcher in the Channing Division of Network Medicine at Brigham and Women's Hospital, Boston. Dr. Hardin, who presented the research, added that multiple genetic determinants likely influence bronchodilator responsiveness. Functional analysis of the SNPs will be conducted, she added. “As we continue to analyze the data, we expect to identify other important SNPs,” said Craig P. Hersh, M.D., who headed the study and is Assistant Professor, Harvard Medical School, and faculty member in the Channing Division of Network Medicine at Brigham and Women’s Hospital. All of the subjects studied had significant histories of smoking, with most (4,561), having smoking histories of over 10 pack-years (i.e., 10 years of smoking a smoking one pack of cigarettes per day.
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